The reliability and validity of Turkish version of pedsQL multidimensional fatigue scale in Duchenne muscular dystrophy (Unknown)
- New search for: Alemdaroğlu, I.
- New search for: Bulut, N.
- New search for: Bozgeyik, S.
- New search for: Karaduman, A.
- New search for: Topaloğlu, H.
- New search for: Yılmaz, O.
- New search for: Alemdaroğlu, I.
- New search for: Bulut, N.
- New search for: Bozgeyik, S.
- New search for: Karaduman, A.
- New search for: Topaloğlu, H.
- New search for: Yılmaz, O.
In:
NEUROMUSCULAR DISORDERS
;
27
, 2
;
S235
;
2017
-
ISSN:
- Article (Journal) / Print
-
Title:The reliability and validity of Turkish version of pedsQL multidimensional fatigue scale in Duchenne muscular dystrophy
-
Contributors:Alemdaroğlu, I. ( author ) / Bulut, N. ( author ) / Bozgeyik, S. ( author ) / Karaduman, A. ( author ) / Topaloğlu, H. ( author ) / Yılmaz, O. ( author )
-
Published in:NEUROMUSCULAR DISORDERS ; 27, 2 ; S235
-
Publisher:
- New search for: Elsevier Science B.V., Amsterdam.
-
Publication date:2017-01-01
-
Size:S235
-
ISSN:
-
Type of media:Article (Journal)
-
Type of material:Print
-
Language:Unknown
- New search for: 616.83
- Further information on Dewey Decimal Classification
-
Classification:
DDC: 616.83 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 27, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 107
-
Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in JapanSaito, Toshio / Kawai, Mitsuru / Kimura, En / Ogata, Katsuhisa / Takahashi, Toshiaki / Kobayashi, Michio / Takada, Hiroto / Kuru, Satoshi / Mikata, Takashi / Matsumura, Tsuyoshi et al. | 2017
- 115
-
Advance care discussions with young people affected by life-limiting neuromuscular diseases: A systematic literature review and narrative synthesisHiscock, Andy / Kuhn, Isla / Barclay, Stephen et al. | 2017
- 136
-
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationAharoni, Sharon / Sadeh, Menachem / Shapira, Yehuda / Edvardson, Simon / Daana, Muhannad / Dor-Wollman, Talia / Mimouni-Bloch, Aviva / Halevy, Ayelet / Cohen, Rony / Sagie, Liora et al. | 2017
- 141
-
Quantification of muscle pathology in infantile Pompe diseaseSchänzer, Anne / Kaiser, Ann-Kathrin / Mühlfeld, Christian / Kulessa, Martin / Paulus, Werner / von Pein, Harald / Rohrbach, Marianne / Viergutz, Lara / Mengel, Eugen / Marquardt, Thorsten et al. | 2017
- 153
-
Is one trial enough for repeated testing? Same-day assessments of walking, mobility and fine hand use in people with myotonic dystrophy type 1Kierkegaard, Marie / Petitclerc, Emilie / Hébert, Luc J. / Gagnon, Cynthia et al. | 2017
- 163
-
Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasisCampione, Elena / Botta, Annalisa / Di Prete, Monia / Rastelli, Emanuele / Gibellini, Manuela / Petrucci, Antonio / Bernardini, Sergio / Novelli, Giuseppe / Bianchi, Luca / Orlandi, Augusto et al. | 2017
- 170
-
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutationsHarris, Elizabeth / McEntagart, Meriel / Topf, Ana / Lochmüller, Hanns / Bushby, Kate / Sewry, Caroline / Straub, Volker et al. | 2017
- 188
-
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvementFernández-Marmiesse, Ana / Carrascosa-Romero, M. Carmen / Alfaro Ponce, Blanca / Nascimento, Andres / Ortez, Carlos / Romero, Norma / Palacios, Lourdes / Jimenez-Mallebrera, Cecilia / Jou, Cristina / Gouveia, Sofía et al. | 2017
- 193
-
IGHMBP2-related clinical and genetic features in a cohort of Chinese Charcot–Marie–Tooth disease type 2 patientsLiu, Lei / Li, Xiaobo / Hu, Zhengmao / Mao, Xiao / Zi, Xiaohong / Xia, Kun / Tang, Beisha / Zhang, Ruxu et al. | 2017
- 200
-
Book reviewButton, Tom et al. | 2017
- 201
-
Blunted respiratory drive response in late onset Pompe diseaseMonteiro, Sergio G. / De Vito, Eduardo L. et al. | 2017
- 202
-
ResponseBerger, Kenneth I. / Goldring, Roberta M. / Oppenheimer, Beno W. et al. | 2017
- S52
-
Welcome to the World Muscle Society Congress in Saint MaloBonne, Gisèle / Voit, Thomas et al. | 2017
- S54
-
22nd WMS Congress – 2017 – Program (Summary)| 2017
- S57
-
22nd WMS Congress – 2017 – Program| 2017
- S97
-
Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approachesMariot, V. / Joubert, R. / Hourdé, C. / Féasson, L. / Hanna, M. / Muntoni, F. / Maisonobe, T. / Servais, L. / Le Panse, R. / Benveniste, O. et al. | 2017
- S98
-
Epigenetic regulation of a mitochondrial apoptosis mediator, harakiri in maintaining muscle membrane stability in autoimmune myositisNagaraju, K. / Boehler, J. / Horn, A. / Novak, J. / Ghimbovschi, S. / Lundberg, I. / Jaiswal, J. et al. | 2017
- S99
-
Has outcome changed for adults with Duchenne muscular dystrophy?Goemans, N. / Dewaele, L. / Claeys, K. / Proesmans, M. / Cools, B. / vanden Hauwe, M. / Moens, P. / Vrijsen, B. / Buyse, B. et al. | 2017
- S102
-
Testosterone therapy in patients with Duchenne muscular dystrophy and glucocorticoid-induced pubertal delayKeefe, C. / Wong, B. / Rybalsky, I. / Shellenbarger, K. / Tian, C. / Khoury, J. / Hornung, L. / Rutter, M. et al. | 2017
- S104
-
Genotype-phenotype associations in a large cohort of Duchenne muscular dystrophy patientsMoon, D. / Hu, S. / Bange, J. / Horn, P. / Rybalsky, I. / Shellenbarger, K. / Wong, B. et al. | 2017
- S107
-
A diagnostic challenge of late onset adult merosinopathyvon Landenberg, C. / Kappes-Horn, K. / Stepien-Mering, M. / Reimann, J. et al. | 2017
- S109
-
The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging patternServián-Morilla, E. / Cabrera-Serrano, M. / Takeuchi, H. / Muelas, N. / Rivas-Infante, E. / Cantero, G. / Mavillard, F. / Vilchez, J. / Paradas, C. et al. | 2017
- S110
-
A novel INPP5K mutation in a sibship from the Reunion IslandNelson, I. / Jacquemont, M. / Urtizberea, A. / Renouil, M. / Boland, A. / Masson, C. / Ben Yaou, R. / Bonne, G. et al. | 2017
- S111
-
A case of severe encephalopathy and movement disorder due to mutations in the TRAPPC11 geneNascimento, A. / Ortez, C. / Colomer, J. / Natera, D. / Frongia, A. / Alarcon, M. / Itzep, D. / Jou, C. / Codina, A. / Corbera, J. et al. | 2017
- S112
-
Novel compound heterozygous mutations in PLEC gene causing epidermolysis bullosa simplex with muscular dystrophy, case series of two affected sistersLee, I. / Hurst, A. / Wong, B. / Tian, C. et al. | 2017
- S113
-
Quantitative cardiac NMR imaging in a large cohort of patients with Becker muscular dystrophyMarty, B. / Toussaint, M. / Gilles, R. / Carlier, P. / Wahbi, K. et al. | 2017
- S114
-
Brain involvement in Duchenne muscular dystrophy: a role for dystrophin isoform Dp71 in cell migration and proliferationAsh, A. / Booth-Wynne, L. / Anthony, K. et al. | 2017
- S115
-
Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: long-term natural history with and without glucocorticoidsMcDonald, C. / Gordish-Dressman, H. / Henricson, E. / Duong, T. / Joyce, N. / Jhawar, S. / Leinonen, M. / Hu, F. / Connolly, A. / Cnaan, A. et al. | 2017
- S116
-
Genotype-phenotype correlations in a French cohort with Becker muscular dystrophy: focus on cognitive aspectsDahimene, F. / Nadej-Pakleza, A. / Durigneux, J. / Mercier, S. / Pereon, Y. / Magot, A. et al. | 2017
- S117
-
Profound hypotonia, muscle weakness, global developmental delays with stepwise regression, and cerebellar atrophy: expansion of the LONP1-related disease phenotypeNimmo, G. / Pandey, A. / Marshall, C. / Venkatesh, S. / Hazrati, L. / Ahmed, S. / Cameron, J. / Ray, P. / Suzuki, C. / Yoon, G. et al. | 2017
- S119
-
GDF-15 expression in mitochondrial and other neurological diseasesIshii, A. / Yatsuga, S. / Koga, Y. / Tamaoka, A. et al. | 2017
- S122
-
Magnetic resonance image in oculopharyngeal muscular dystrophyAlonso-Jimenez, A. / Alejaldre-Monforte, A. / Dominguez-Gonzalez, C. / Cortes-Vicente, E. / Rojas-Garcia, R. / Tasca, G. / Carlier, R. / Monforte, M. / Laforêt, P. / Gutierrez-Gutierrez, G. et al. | 2017
- S124
-
Quantitative analysis of muscle resonance imaging of fatty infiltration of the pelvic and lower limb muscles in Duchenne muscular dystrophy using excel based auto calculation programHirasawa, A. / Ishiyama, A. / Nakayama, T. / Kuru, S. / Takeshita, E. / Shimizu-Motohashi, Y. / Komaki, H. / Nishino, I. / Sasaki, M. et al. | 2017
- S125
-
Stimulated echo DTI of skeletal muscle in Becker muscular dystrophy: a pilot studyBaligand, C. / Burakiewicz, J. / Hooijmans, M. / Scheidegger, O. / Hall, M. / Porcari, P. / Carlier, P. / Clark, C. / Blamire, A. / Verschuuren, J. et al. | 2017
- S126
-
Monitoring skeletal muscle chronic fatty degenerations using fast NMR T1-mappingMarty, B. / Coppa, B. / Baudin, P. / Carlier, P. et al. | 2017
- S127
-
Audit of the TREAT-NMD global DMD and SMA registries: new insights into data collection methodsLeary, R. / Oyewole, A. / Goemans, N. / Dawkins, H. / Campbell, C. et al. | 2017
- S128
-
DMD Genetic registry in Russia.Vlodavets, D. / Reshetov, D. / Artemieva, S. / Shulyakova, I. / Shidlovskaya, O. / Monakhova, A. / Vitrensky, F. / Kazakov, D. / Litvinova, E. / Belousova, E. et al. | 2017
- S129
-
Czech national registry of facioscapulohumeral muscular dystrophyVohanka, S. / Parmova, O. / Fajkusova, L. / Mazanec, R. / Strenkova, J. / Ridzon, P. / Ehler, E. / Forgac, M. / Junkerova, J. / Haberlova, J. et al. | 2017
- S131
-
Failure to attend neuromuscular clinic appointments: reasons and interventionsCameron, S. / Eglon, G. / Hastings, L. / Straub, V. / Lochmüller, H. / Bushby, K. / Guglieri, M. / Marini-Bettolo, C. et al. | 2017
- S132
-
Abnormal fatty acid metabolism is a feature of spinal muscular atrophyDeguise, M. / De Repentigny, Y. / Beauvais, A. / Bowerman, M. / Kothary, R. et al. | 2017
- S133
-
Autonomic nervous system involvement in spinal muscular atrophy type 1, 2 and 3Messina, S. / Sframeli, M. / Vita, G. / Stancanelli, C. / Terranova, C. / Rizzo, E. / Cavallaro, F. / Girlanda, P. et al. | 2017
- S134
-
Spinal muscular atrophy with lower extremity predominance: a recognizable phenotype of BICD2 mutations in childrenKulshrestha, R. / Sewry, C. / Muntoni, F. / Willis, T. / Munot, P. et al. | 2017
- S136
-
Identification of variants that affect severity of the spinal muscular atrophy phenotype within and outside of the SMN2 geneBurghes, A. / McGovern, V. / Ruhno, C. / Prior, T. / Snyder, P. / Roggenbuck, J. / Sansone, V. / Kissel, J. et al. | 2017
- S137
-
First results from the international LMNA-related congenital and childhood onset muscular dystrophy retrospective natural history studyBen Yaou, R. / Dabaj, I. / Yun, P. / Norato, G. / Xiong, H. / Nascimento, A. / Maggi, L. / Sarkozy, A. / Monges, S. / Bertoli, M. et al. | 2017
- S138
-
Two novel mutations in the FHL1 gene extending the phenotypic spectrumStrehle, E. / Johnson, K. / Rakocevic-Stojanovic, V. / Peric, S. / Farrugia, M. / Longman, C. / Straub, V. et al. | 2017
- S139
-
Novel recessive splice site mutation in POPDC1 (BVES) is associated with first-degree atrioventricular block and muscular dystrophyNelson, I. / Beuvin, M. / Ben-Yaou, R. / Masson, C. / Boland, A. / Schindler, R. / Brand, T. / Eymard, B. / Bonne, G. et al. | 2017
- S140
-
Molecular pathogenesis of caveolin-3-related limb-girdle muscular dystrophyGonzalez Coraspe, J. / Hathazi, D. / Lochmüller, H. / Carr, S. / Sunada, Y. / Weis, J. / Roos, A. et al. | 2017
- S141
-
Characteristic findings of skeletal muscle MRI in childhood-onset Rippling muscle diseaseIshiguro, K. / Murakami, T. / Kajino, S. / Shichiji, M. / Sato, T. / Hayashi, Y. / Nakayama, T. / Kuru, S. / Osawa, M. / Nagata, S. et al. | 2017
- S142
-
Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weaknessJohnson, K. / Töpf, A. / Bertoli, M. / Phillips, L. / De Ridder, W. / Baets, J. / De Jonghe, P. / Deconinck, T. / Rakocevic Stojanovic, V. / Perić, S. et al. | 2017
- S143
-
Characterization of the eosinophilic myositis caused by CAPN3 mutations on a mouse modelWarnez-Soulie, J. / Giannesini, B. / Henri, S. / Richard, I. / Malissen, B. / Krahn, M. / Bartoli, M. et al. | 2017
- S144
-
The 107 kD ANO5 protein is decreased in anoctaminopathy patientsVihola, A. / Luque, H. / Savarese, M. / Penttilä, S. / Lindfors, M. / Leturcq, F. / Eymard, B. / Tasca, G. / Brais, B. / Conte, T. et al. | 2017
- S145
-
Does the performance of upper limb capture functional variations in dysferlinopathy?James, M. / Mayhew, A. / Moat, D. / Eagle, M. / Maron, E. / Gee, R. / Rose, K. / Drogo, B. / Vandevelde, B. / Foy, K. et al. | 2017
- S146
-
New insights into lipid accumulation in dysferlin deficient muscular dystrophiesGrounds, M. / White, R. / Lloyd, E. / Pinniger, G. et al. | 2017
- S147
-
The effect of orthosis and foot surgery in a cohort of Charcot-Marie-Tooth disease childrenMilev, E. / Bhandari, T. / Laura, M. / Reilly, M. / Muntoni, F. et al. | 2017
- S148
-
Clinical characteristics of spectrum of GNE gene mutations in Reunion-Island cohort.Grigorashvili-Coin, I. / Campech, M. / Darcel, F. / Jacquemont, M. / Kranh, M. / Cerino, M. / Choumert, A. et al. | 2017
- S149
-
GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective studyBehin, A. / Mozaffar, T. / Tarnopolsky, M. / Gidaro, T. / Pogoryelova, O. / Shah, J. / Krolczyk, S. / Koutsoukos, T. / Tournev, I. / Lochmüller, H. et al. | 2017
- S150
-
PLEC gene mutations cause familial disto-proximal myopathy and long QT syndrome mimicking mitochondrial diseaseServidei, S. / Primiano, G. / Muto, V. / Cuccagna, C. / Bernardo, D. / Sauchelli, D. / Sancricca, C. / Lucchini, M. / Mirabella, M. / Tartaglia, M. et al. | 2017
- S151
-
Clinical and histopathological features of immune-mediated necrotising and inflammatory myopathy in relation to treatment with immune checkpoint blockers (ICBs) in cancer patientsLeonard Louis, S. / Touat, M. / Maisonobe, T. / Allenbach, Y. / Benveniste, O. / Psimaras, D. / Lenglet, T. / Salem, O. Hadj / Kramkimel, N. / Cadranel, J. et al. | 2017
- S152
-
Type 1 interferon signature as a diagnostic marker of dermatomyositisUruha, A. / Allenbach, Y. / Charuel, J. / Musset, L. / Aussy, A. / Boyer, O. / Mariampillai, K. / Landon-Cardinal, O. / Rasmussen, C. / Leonard-Louis, S. et al. | 2017
- S155
-
Myogenic progenitor cells exhibit IFN type I-driven pro-angiogenic properties and molecular signature during juvenile dermatomyositisGitiaux, C. / Latroche, C. / Weiss-Gayet, M. / Rodero, M. / Duffy, D. / Bader Meunier, B. / Bodemer, C. / Mouchiroud, G. / Chelly, J. / Germain, S. et al. | 2017
- S156
-
PD1 and PDL2 axis confers T cell exhaustion in anti-SRP+ and anti-HMGCR+ myopathiesKnauß, S. / Allenbach, Y. / Preuße, C. / Fischer, N. / Matyash, V. / Goebel, H. / Benveniste, O. / Stenzel, W. et al. | 2017
- S157
-
Osmolyte transporters of Betaine GABA (SLC6A12) and taurine (SLC5A3) are expressed in muscle-infiltrating mononuclear cells in inflammatory myopathiesDe Paepe, B. / Weis, J. / De Bleecker, J. et al. | 2017
- S158
-
Predictive value of cerebral FDG-PET for diagnosing aluminium hydroxide-induced macrophagic myofasciitis (MMF)Van der Gucht, A. / Abulizi, M. / Aoun-Sebati, M. / Itti, E. / Authier, F. et al. | 2017
- S159
-
Screening for late-onset Pompe disease among high-risk population in JapanOgata, K. / Kosuga, M. / Takeshita, E. / Matsumura, T. / Ishigaki, K. / Ozasa, S. / Arahata, H. / Sugie, K. / Takahashi, T. / Kuru, S. et al. | 2017
- S160
-
Sensitivity and specificity of the PAS positive lymphocyte vacuoles in the diagnostic approach to late onset Pompe diseaseSampaolo, S. / Bernardini, S. / Pascarella, A. / Farina, O. / Terracciano, C. / Lombardi, L. / Napolitano, F. / Esposito, T. / Di Iorio, G. et al. | 2017
- S161
-
Long-term efficacy of enzyme-replacement therapy in 102 adult Pompe patients: a 5-year nationwide prospective cohort studyHarlaar, L. / Kuperus, E. / Kruijshaar, M. / Wens, S. / de Vries, J. / Favejee, M. / van der Meijden, J. / Rizopoulos, D. / Brusse, E. / van Doorn, P. et al. | 2017
- S162
-
Postural and gait patterns assessed by 3D movement analysis in a late onset Pompe disease sibshipDe Blasiis, P. / Mazzoli, D. / Farina, O. / Lombardi, L. / Melone, M. / Di Iorio, G. / Sampaolo, S. et al. | 2017
- S165
-
Permanent muscle weakness in hypokalemic periodic paralysisHolm-Yildiz, S. / Witting, N. / Fornander, F. / Eisum, A. / Duno, M. / Sorensen, T. / Vissing, J. et al. | 2017
- S166
-
MicroRNAs involved in nNOS regulation in dystrophic contextGuilbaud, M. / Gentil, C. / Holtzmann, I. / Gruszczynski, C. / Falcone, S. / Peccate, C. / Benkhelifa-Ziyyat, S. / Lorain, S. / Aurade, F. / Jeanson-Leh, L. et al. | 2017
- S167
-
Comparative high resolution proteomic analysis of dystrophic mouse models reveals a core dystrophic proteome and the impact of agingvan Westering, T. / Johansson, H. / Coenen-Stass, A. / Miyatake, S. / Tanihata, J. / Takeda, S. / Yokota, T. / Lehtiö, J. / Wood, M. / El Andaloussi, S. et al. | 2017
- S168
-
Urinary excretion of 8-OHdG, a biomarker of oxidative DNA damage, increases with age in DMD patientsMatsumoto, M. / Awano, H. / Nagai, M. / Shirakawa, T. / Iijima, K. / Matsuo, M. et al. | 2017
- S169
-
Myotubular myopathy and excitation contraction coupling: From pathomechanism(s) to therapyDowling, J. / Sabha, N. / Maani, N. / Volpatti, J. / Gonorazky, H. / Rezai, K. / Groom, L. / Dirksen, R. et al. | 2017
- S170
-
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathyRaess, M. / Cowling, B. / Bertazzi, D. / Kretz, C. / Rinaldi, B. / Kessler, P. / Friant, S. / Laporte, J. et al. | 2017
- S171
-
X-linked myotubular myopathy: a report of five casesCoelho, J. / Proença Santos, T. / Moreno, T. et al. | 2017
- S172
-
BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of SpainCabrera-Serrano, M. / Rivas-Infante, E. / Mavillard, F. / Morar, B. / Comas, D. / Carvajal, A. / Avila, R. / Muelas, N. / Olive, M. / Diaz, J. et al. | 2017
- S174
-
AAV-mediated gene therapy in central nervous system of dystrophin-Dp71 deficient mouseRendon, A. / Vacca, O. / Vaillend, C. et al. | 2017
- S175
-
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathySchartner, V. / Romero, N. / Donkervoort, S. / Treves, S. / Munot, P. / Pierson, T. / Dabaj, I. / Malfatti, E. / Zaharieva, I. / Zorzato, F. et al. | 2017
- S176
-
Recessive mutation in EXOSC9 disrupts the exosome complex resulting in a novel form of cerebellar hypoplasia/atrophy with early motor neuronopathyDonkervoort, S. / Müller, J. / Knierim, E. / Bharucha-Goebel, D. / Dyack, S. / Burns, D. / Hu, Y. / Baker, L. / Ezzo, D. / Scavina, M. et al. | 2017
- S177
-
A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based managementLagrue, E. / Dogan, C. / De Antonio, M. / Bassez, G. / Hamroun, D. / Gherardi, R. et al. | 2017
- S178
-
Association between mutation size and cardiac involvement in myotonic dystrophy type 1: an analysis of the DM1-heart registryWahbi, K. / Chong-Nguyen, C. / Algalarrondo, V. / Becane, H. / Arnaud, P. / Furling, D. / Bassez, G. / Behin, A. / Fayssoil, A. / Laforêt, P. et al. | 2017
- S179
-
Early onset cataract: prominent feature in myotonic dystrophy type 2Papadopoulos, C. / Xirou, S. / Kekou, K. / Kitsiou-Tzeli, S. / Kararizou, E. / Papadimas, G. et al. | 2017
- S181
-
The natural history of nemaline myopathyAmburgey, K. / Hewson, S. / Hum, C. / Glueck, M. / Sultanum, N. / Girdea, M. / Brudno, M. / Bönnemann, C. / Dastgir, J. / Amin, R. et al. | 2017
- S182
-
The regulation of leiomodins by Kelch proteins – deciphering the mechanism of pathogenicity in nemaline myopathyYuen, M. / Best, H. / Rastegar, D. Ahmadi / Cenik, B. / Olson, E. / Clarke, N. / Cooper, S. et al. | 2017
- S183
-
Further insights in nemaline myopathy (NM) with hyaline massesBevilacqua, J. / Malfatti, E. / Labasse, C. / Brochier, G. / Madelaine, A. / Lacene, E. / Rendu, J. / Doray, B. / de Monredon, J. / Laforêt, P. et al. | 2017
- S184
-
A new TNNT1 mutation in a non Amish patient with original muscle pathology findingsChrestian, N. / Sylvain, M. / Karamchandani, J. et al. | 2017
- S186
-
Application of a CRISPR/Cas9 gene editing therapy in a novel humanized dystrophic mouse model of Duchenne muscular dystrophyYoung, C. / Mokhonova, E. / Quinonez, M. / Pyle, A. / Spencer, M. et al. | 2017
- S187
-
The relationship between dystrophin restoration through tricyclo DNA-AON treatment to myosin fast fibre phenotype and other members of the DAG complexOmairi, S. / Goyenvalle, A. / Amthor, H. / Garcia, L. / Patel, K. et al. | 2017
- S188
-
Molecular therapy in a novel translational large animal model for Duchenne muscular dystrophyKrause, S. / Reichert, S. / Donandt, T. / Kalbe, C. / Schmuck, M. / Klymiuk, N. / Kessler, B. / Blutke, A. / Wolf, E. / Schoser, B. et al. | 2017
- S190
-
The contractile phenotype of a novel dystrophin-negative mouse strain with enhanced voluntary exercise capabilityWingate, C. / Pinniger, G. / Arthur, P. / Bakker, A. / Nowak, K. et al. | 2017
- S191
-
Taurine: an anti-inflammatory and antioxidant with strong potential benefits for Duchenne muscular dystrophyArthur, P. / Terrill, J. / Grounds, M. et al. | 2017
- S192
-
Immunoglobulin therapy modulates the severe inflammatory progression of neuromuscular disordersGhirotto, B. / Loures, F. Vieira / Bueno, H. / Cangussu, E. / Goulart, E. / Coatti, G. / Caldini, E. / Condino-Neto, A. / Zatz, M. et al. | 2017
- S193
-
Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patientsValipakka, S. / Savarese, M. / Johari, M. / Sagath, L. / Arumilli, M. / Pena, A. Saenz / de Munain Arregui, A. / Esteban, A. Cobo / Pelin, K. / Udd, B. et al. | 2017
- S194
-
Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics projectSelvatici, R. / Neri, M. / Scotton, C. / Falzarano, M. / Rossi, R. / Armaroli, A. / Gualandi, F. / Fini, S. / Ferlini, A. et al. | 2017
- S196
-
Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndromeTopf, A. / Azuma, Y. / Gorokhova, S. / O'Connor, E. / Porter, A. / Harris, E. / Evangelista, T. / Cox, D. / Lorenzoni, P. / McMacken, G. et al. | 2017
- S197
-
MNDcap gene panel as a diagnostic tool in motor neuron disordersPenttilä, S. / Arumilli, M. / Hackman, P. / Sainio, M. / Ylikallio, E. / Tyynismaa, H. / Udd, B. et al. | 2017
- S198
-
Translating DUX4-targeted RNAi therapy for Facioscapulohumeral muscular dystrophyWallace, L. / Griffin, D. / Pyne, N. / Domire, J. / Rodino-Klapac, L. / Harper, S. et al. | 2017
- S199
-
Xenografts of human myogenic cells into mice form pure human muscle: a new model for FSHDBloch, R. / Mueller, A. / Llach, A. / O'Neill, A. / Jones, T. / Sakellariou, P. / Stadller, G. / Wright, W. / Jones, P. et al. | 2017
- S200
-
DUX4 signature in STIR+ Facioscapulohumeral muscular dystrophy musclesTasca, G. / Pescatori, M. / Monforte, M. / Garofalo, A. / Carissimo, A. / Mutarelli, M. / Nigro, V. / Ricci, E. et al. | 2017
- S202
-
Nuclear PABPN1 aggregates in OPMD: correlation study and therapyRoth, F. / Jarmin, S. / Oliver, A. / Nguyen, N. / Chappell, A. / Harish, P. / Cordova, G. / Cappellari, O. / Lainé, J. / Guily, J. Lacau St et al. | 2017
- S203
-
The EUROMAC registry for rare glycogen storage diseases: preliminary reportScalco, R. / Quinlivan, R. / Lucia, A. / Santalla, A. / Martinuzzi, A. / Toscano, A. / Musumeci, O. / Milan, B. San / Durmus, H. / Voermans, N. et al. | 2017
- S204
-
McArdle Disease: Clinical, biochemical and molecular genetic analysis of 58 patientsJoshi, P. / Zierz, S. et al. | 2017
- S205
-
Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectivesMalfatti, E. / Goillot, E. / Streichenberger, N. / Leonard-Louis, S. / Brochier, G. / Madelaine, A. / Labasse, C. / Nadaj-Pakleza, A. / Sacconi, S. / Schoser, B. et al. | 2017
- S206
-
Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathyGurgel-Giannetti, J. / Lynch, D. / Paiva, A. / Yamamoto, G. / Lucato, L. / Amorim, S. / Freua, F. / Giannetti, A. / Ripa, B. / Monti, F. et al. | 2017
- S207
-
Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim resultsCharnas, L. / Voltz, E. / Pfister, C. / Peters, T. / Hartmann, A. / Berghs-Clairmont, C. / Praestgaard, J. / de Raspide, M. / Deconinck, N. / Born, A. et al. | 2017
- S208
-
AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger ageLowes, L. / Al-Zaidy, S. / Shell, R. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Alfano, L. / Berry, K. / Church, K. / Kissel, J. et al. | 2017
- S209
-
Olesoxime in patients with type 2 or non-ambulatory type 3 Spinal muscular atrophy: a placebo-controlled phase 2 trial including a long-term, open-label follow-up studyMuntoni, F. / Buchbjerg, J. / Bertini, E. / Dessaud, E. / Mercuri, E. / Kirschner, J. / Reid, C. / Lusakowska, A. / Comi, G. / Cuisset, J. et al. | 2017
- S210
-
Safety and efficacy of nusinersen in infants/children with spinal muscular atrophy (SMA): part 1 of the phase 2 EMBRACE studyAcsadi, G. / Shieh, P. / Crawford, T. / Richardson, R. / Natarajan, N. / Castro, D. / Gheuens, S. / Gambino, G. / Sun, P. / Reyna, S. et al. | 2017
- S211
-
First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1Gargaun, E. / Aragon-Gawinska, K. / Seferian, A. / Gidaro, T. / Gilabert, S. / Lilien, C. / Colcer, A. / Boukouti, K. / Vuillerot, C. / Cances, C. et al. | 2017
- S214
-
Establishment of primary myoblast cell culture from cryoprotected skeletal muscle biopsiesBalci-Hayta, B. / Bekircan-Kurt, C. / Aksu, E. / Dayangac-Erden, D. / Tan, E. / Erdem-Ozdamar, S. et al. | 2017
- S215
-
Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkersGidaro, T. / Servais, L. / Previtali, S. / Zambon, A. / Pitchforth, J. / Maresh, K. / Diaz, J. / Laveille, C. / Gray, J. / Porte-Thomé, F. et al. | 2017
- S216
-
Injection site reactions as a consequence of long-term subcutaneous administration of drisapersen in Duchenne muscular dystrophyNiks, E. / Van Doorn, R. / Domingos, J. / Guglieri, M. / Pane, M. / Mauro, A. / Virgili, A. / Morren, M. / Martinez, A. / Nguyen, A. et al. | 2017
- S217
-
Drug development of vamorolone for Duchenne muscular dystrophyClemens, P. / Guglieri, M. / Morgenroth, L. / Damsker, J. / Smith, A. / Hathout, Y. / Cnaan, A. / Smith, E. / Mah, J. / Byrne, B. et al. | 2017
- S219
-
Repurposing tamoxifen for severe myopathies: from preclinical evaluation in animal models to clinical trials in patientsDorchies, O. / Gayi, E. / Ismail, H. / Neff, L. / Cowling, B. / Laporte, J. / Dor, T. / Fischer, D. / Ruegg, U. / Scapozza, L. et al. | 2017
- S220
-
Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivoWang, H. / Salter, S. / Refai, O. / Hardy, H. / Sejersen, T. / Wright, J. / Zimmerman, H. / Weis, J. / Schara, U. / Russell, M. et al. | 2017
- S221
-
GFPT1-related limb-girdle myasthenia: First case reported in ArgentinaRugiero, M. / Gonorazky, H. / Bettini, M. / Saccoliti, M. / Lornage, X. / Böhm, J. / Laporte, J. / Romero, N. / Taratuto, A. et al. | 2017
- S223
-
Establishing a relationship between EQ-5D and QMG in patients with Lambert-Eaton myasthenic syndromeJarrett, J. / Mantegazza, R. / Sieb, J. / Datt, J. et al. | 2017
- S224
-
Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3Hogrel, J. / Annoussamy, M. / Chabanon, A. / Daron, A. / Péréon, Y. / Cancès, C. / Vuillerot, C. / Goemans, N. / Cuisset, J. / Laugel, V. et al. | 2017
- S226
-
Validity of the 6 minute walking test in myotonic dystrophy type 1 in a large scale cross-sectional studyMoat, D. / Jimenez-Moreno, C. / Mayhew, A. / Massey, C. / Nikolenko, N. / Turner, C. / Lochmüller, H. et al. | 2017
- S227
-
Is grip strength compared to lower extremity measurements sufficient for capturing changes in muscle strength in chronic inflammatory demyelinating polyneuropathy?Knak, K. / Andersen, L. / Markvardsen, L. et al. | 2017
- S228
-
Clinics, histopathology and whole-body-MRI pattern in CACNA1S/DHPR myopathyIvanovic-Barbeito, Y. / Dabaj, I. / Malfatti, E. / Bénezit, A. / Gonorazky, H. / Taratuto, A. / Laporte, J. / Eymard, B. / Romero, N. / Pakleza, N. et al. | 2017
- S229
-
Calreticulin mutation in a case of myopathySampaolo, S. / de Lucia, D. / Lombardi, l. / Casertano, S. / Rossi, F. / Fratta, M. / Di Francia, R. / Di Iorio, G. et al. | 2017
- S230
-
Muscle growth by activin type II receptor blocking ameliorates weakness in GNE myopathy miceMiyakawa, M. / Yonekawa, T. / Malicdan, M. / Lach-Trifilieff, E. / Nonaka, I. / Nishino, I. / Noguchi, S. et al. | 2017
- S231
-
Accelerating the translation of natural history into more effective clinical trial design through multi-stakeholder collaborationMercuri, E. / Goemans, N. / Muntoni, F. / Manzur, A. / Wong, B. / Signorovitch, J. / Ward, S. et al. | 2017
- S232
-
Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trialsDomingos, J. / Eagle, M. / Moraux, A. / Butler, J. / Decostre, V. / Ridout, D. / Mayhew, A. / Selby, V. / Guglieri, M. / Van der Holst, M. et al. | 2017
- S233
-
Activities of daily living detection using home activity monitoring device in Duchenne muscular dystrophy patientsMoraux, A. / Beaufils, B. / Grelet, M. / Seferian, A. / Gasnier, E. / Gidaro, T. / Dorveaux, E. / Vissiere, D. / Servais, L. et al. | 2017
- S234
-
Exploring physical activity levels and sleep efficiency relationships among boys with Duchenne muscular dystrophy (DMD)Bendixen, R. / Anning, J. / Kelleher, A. / Yuhas, M. / Feltman, M. / Lorenzin, D. / Morizono, H. / Hoffman, E. et al. | 2017
- S236
-
Collection of high quality muscle biopsies for use in DMD clinical trial analysis; process development and implementationTinsley, J. / Frank, D. / Dworzak, J. / Faelan, C. / Patterson-Kane, J. / Wolff, H. / Muntoni, F. et al. | 2017
- S237
-
Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?Oates, E. / Yau, K. / Jones, K. / Smith, J. / Cummings, B. / Farrar, M. / Cooper, S. / Lek, M. / Hoffman, E. / Straub, V. et al. | 2017
- S238
-
Muscle hyperthrophy with RYR1 mutationChrestian, N. / Lace, B. / Gould, P. / Dionne, A. et al. | 2017
- S239
-
Establishment of an international database of Titin mutations and their phenotypes – a follow upHackman, P. / Savarese, M. / Bönneman, C. / Ferreiro, A. / Beggs, A. / Gautel, M. / Davis, M. / Evangelista, T. / Glumac, J. Nikodinovic / Laporte, J. et al. | 2017
- S240
-
Motor performance and disease progression in RYR1-RMWitherspoon, J. / Vasavada, R. / Waite, M. / Chrismer, I. / Jain, M. / Meilleur, K. et al. | 2017
- S241
-
Drop-out in longitudinal natural history studies in neuromuscular diseasesAnnoussamy, M. / Ho, D. / Chê, V. / Phelep, A. / Servais, L. et al. | 2017
- S242
-
Walking with weakness: a snapshot of gait in a paediatric neuromuscular clinicCarroll, K. / de Valle, K. / Ryan, M. / Kornberg, A. / Kennedy, R. et al. | 2017
- S243
-
Epidemiological population-based study of hereditary myopathies in a southern European regionPagola, I. / Vicente, E. / Torne, L. / Ardanaz, E. / Fernandez-Torron, R. / Ramos-Arroyo, M. / Jerico, I. et al. | 2017
- S245
-
Gene therapy for oculopharyngeal muscular dystrophyMalerba, A. / Klein, P. / Bachtarzi, H. / Jarmin, S. / Cordova, G. / Ferry, A. / Strings, V. / Espinoza, M. Polay / Mamchaoui, K. / Blumen, S. et al. | 2017
- S246
-
Tamoxifen increases survival, improves motor function and reduces levels of BIN1 and DNM2 in a mouse model of X-linked centronuclear (myotubular) myopathyGayi, E. / Ismail, H. / Cowling, B. / Neff, L. / Laporte, J. / Scapozza, L. / Dorchies, O. et al. | 2017
- S247
-
Prion-like protein aggregation of desmin myofibrillar myopathiesWeihl, C. / Bieschke, J. et al. | 2017
- S250
-
Author Index| 2017
-
MuSK MG patients showed a positive response to amifampridine phosphate in a randomized, placebo-controlled, crossover studyMantegazza, R. / Pasanisi, B. / Antozzi, C. / Maggi, L. / Andreetta, F. / Simoncini, O. / Bonanno, S. et al. | 2017
-
RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypesFrongia, A. / Ortez, C. / Natera, D. / Itzep, D. Cortiza / Alarcón, M. / Maioli, M. / Suarez, A. Maritza Betancourt / Jou, C. / Codina, A. / Corbera, J. et al. | 2017
-
A Phase I, single- and repeated-dose study of TAS-205, a novel inhibitor of hematopoietic prostaglandin D synthase, in patients with Duchenne muscular dystrophyKomaki, H. / Takeshita, E. / Motohashi, Y. / Ishiyama, A. / Sasaki, M. / Miyoshi, K. / Yamamiya, I. / Yamada, N. / Minami, N. et al. | 2017
-
Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical casesLacourt, D. / Yauy, K. / Walther-Louvier, U. / Juntas-Morales, R. / Cances, C. / Espil, C. / Sole, G. / Arné-Bes, M. / Cintas, P. / Uro-coste, E. et al. | 2017
-
Pharmacologic modulation of DUX4-dependent phenotypes in FSHDRojas, L. / Accorsi, A. / Shen, N. / Maglio, J. / Chang, A. / Rahl, P. / Cacace, A. et al. | 2017
-
In vivo tracking of canine myoblasts mediated by the sodium iodide symporter gene expressionPunzón, I. / Mauduit, D. / Barthélémy, I. / Holvoet, B. / Blanchard-Gutton, N. / Thibaud, J. / de Fornel, P. / Deroose, C. / Vilquin, J. / Sampaolesi, M. et al. | 2017
-
The leaky retina and facioscapulohumeral dystrophy: clues, cautions, conundrums and treatment| 2017
-
Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cellsAnsseau, E. / Sciot, M. / Goudji, C. / Castella, S. / Larcher, J. / Belayew, A. / Coppée, F. et al. | 2017
-
Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study updateMercuri, E. / Kirschner, J. / Baranello, G. / Servais, L. / Goemans, N. / Pera, M. / Marquet, A. / Seabrook, T. / Sturm, S. / Armstrong, G. et al. | 2017
-
The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics projectNeri, M. / Scotton, C. / Selvatici, R. / Gualandi, F. / Wirth, B. / Schols, L. / Klockgether, T. / Lochmüller, H. / Muntoni, F. / D'Amico, A. et al. | 2017
-
Cardiac diastolic dysfunction correlates with the CTG trinucleotide repeat length in ambulatory myotonic dystrophy 1Park, J. / Park, D. / Sohn, J. / Shin, J. et al. | 2017
-
A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiencyMalicdan, M. / Vilboux, T. / Ben-Zeev, B. / Guo, J. / Eliyahu, A. / Pode-Shakked, B. / Dori, A. / Kakani, S. / Chandrasekharappa, S. / Ferreira, C. et al. | 2017
-
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify dystrophin mutations by NGS technologiesSelvatici, R. / Rossi, R. / Trabanelli, C. / Rimessi, P. / Fini, S. / Gualandi, F. / Ferlini, A. et al. | 2017
-
Axial myopathy in patients with neuromuscular diseasesRudolf, K. / Knak, K. / Witting, N. / Vissing, J. et al. | 2017
-
Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trialGargaun, E. / Seferian, A. / Quicke, G. / Moraux, A. / Gidaro, T. / Gasnier, E. / Daron, A. / Péréon, Y. / Cances, C. / Vuillerot, C. et al. | 2017
-
Myotonic discharges in a cohort of centronuclear myopathies.Domingues, J. / Rosa, T. / Iwabe-Marchese., C. / Martins, C. / Martinez, A. / Queiroz, L. / Pfeilsticker., B. / França, M. / Nucci, A. et al. | 2017
-
Circulating miRs biomarkers for therapeutic monitoring in utrophin based DMD therapyRamadan, N. / Guiraud, S. / Edwards, B. / Squire, S. / Hemming, S. / Davies, K. et al. | 2017
-
Skeletal muscle channelopathies: Rare treatable disorders with common presentation in childhoodMatthews, E. / Silwal, A. / Sud, R. / Manzur, A. / Hanna, M. / Muntoni, F. / Munot, P. et al. | 2017
-
Osmolyte accumulator expression is induced in muscle cells in response to inflammationDe Paepe, B. / Zschuntzsch, J. / De Bleecker, J. / Schmidt, J. et al. | 2017
-
Incidence and prevalence of inclusion body myositis in western SwedenLindgren, U. / Lindberg, C. / Oldfors, A. et al. | 2017
-
A knock-in mouse model with nonsense dysferlin mutationShin, J. / Park, S. / Park, J. / Kim, D. et al. | 2017
-
Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease. Types: a pilot studyKnak, K. / Andersen, L. / Vissing, J. et al. | 2017
-
Anoctamin 5 muscular dystrophy mimicking metabolic myopathyDurmus, H. / Scalco, R. / Gardiner, A. / Manole, A. / Schapira, A. / Morrow, J. / Houlden, H. / Holton, J. / Johnson, K. / Töpf, A. et al. | 2017
-
Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathyFernandez Torron, R. / Harris, E. / Bourke, J. / Bettinson, K. / Hilsden, H. / Spuler, S. / Day, J. / Jones, K. / Bharucha-Goebel, D. / Salort-Campana, E. et al. | 2017
-
Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathyMacquart, C. / Chatzifrangkeskou, M. / Gotthardt, M. / Bonne, G. / Muchir, A. et al. | 2017
-
Long term follow-up of neuromuscular patients and family members submitted to psychoanalytical treatmentForbes, J. / Genesini, T. / Mouzat, A. / Bogochvol, A. / Castro, D. / Rüdiger, D. / Padovan, E. / Macedo, E. / Fonseca, F. / Andrade, H. et al. | 2017
-
Auto calculation of muscle impairment ratio utilizing Mercuri grades from CT and MR images of muscleNakayama, T. / Ishiyama, A. / Murakami, T. / Kimura, E. / Kuru, S. et al. | 2017
-
Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative studySalort-Campana, E. / Fatehi, F. / Le Troter, A. / Lareau-Trudel, E. / Bydder, M. / Guye, M. / Bendahan, D. / Attarian, S. et al. | 2017
-
Muscle magnetic resonance imaging in inclusion body myositis: presentation of 16 casesRugiero, M. / Bettini, M. / Araoz, M. / Genco, N. / Chaves, M. / Christiansen, S. / Rassumoff, A. et al. | 2017
-
Muscle alterations in sporadic inclusion body myositis assessed using quantitative nuclear magnetic resonance imaging and spectroscopy, ultrasound shear-wave elastography, and relationships with muscle functionBachasson, D. / Reyngoudt, H. / Turk, S. / Benveniste, O. / Hogrel, J. / Carlier, P. et al. | 2017
-
Skeletal muscle tissue characterization of a large cohort of patients with Becker muscular dystrophy using quantitative NMR imagingMarty, B. / Toussaint, M. / Gilles, R. / Wahbi, K. / Carlier, P. et al. | 2017
-
Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin geneWalter, M. / Reilich, P. / Krause, S. / Abicht, A. / Schoser, B. et al. | 2017
-
Clinical and genetic characterization of collagen VI-related myopathies: difficulties in phenotypic characterization in the first years of lifeNatera-de Benito, D. / Alarcon, M. / Ortez, C. / Nascimento, A. / Jou, C. / Medina, J. / Vigo, M. / Codina, A. / Frongia, A. / Colomer, J. et al. | 2017
-
Dysferlin reduces calcium leak and stabilizes excitation-contraction coupling in mature muscleBloch, R. / Lukyanenko, V. / Muriel, J. et al. | 2017
-
Characterization of molecular pathophysiology in muscular dystrophy by next generation RNA sequencing using DMD and CMD mouse modelsYanay, N. / Elbaz, M. / Konikov, J. / Elgavish, S. / Rabie, M. / Mitrani-Rosenbaum, S. / Nevo, Y. et al. | 2017
-
Functional and morphological improvement of skeletal muscle in Pompe disease after forced satellite cell activationSchaaf, G. / van Gestel, T. / in 't Groen, S. / van der Ploeg, A. / Pijnappel, W. et al. | 2017
-
Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathyDanièle, N. / Bogni, C. / Julien, L. / Piet, A. / Vignaud, A. / Buj-Bello, A. et al. | 2017
-
Cyclophosphamide, thalidomide, and dexamethasone as alternative treatment regimen for sporadic late onset nemaline myopathy associated with monoclonal gammopathy of undetermined significanceTanboon, J. / Kumutpongpanich, T. / Owattanapanich, W. / Sangruchi, T. / Boonyapisit, K. / Nishino, I. et al. | 2017
-
CYLD is a possible therapeutic target for sporadic inclusion body myositisYamashita, S. / Matsuo, Y. / Tawara, N. / Zhang, X. / Zhang, Z. / Doki, T. / Ando, Y. et al. | 2017
-
A new actinopathy – adult onset LGMDPalmio, J. / Jonson, P. / Savarese, M. / Penttilä, S. / Huovinen, S. / Lindfors, M. / Udd, B. et al. | 2017
-
Effects of water compartmentation and distribution on skeletal muscle T1 values assessed by quantitative NMR imagingMarty, B. / Coppa, B. / Baudin, P. / Carlier, P. et al. | 2017
-
Duchenne muscular dystrophy patients with chest pain require cardiac evaluation: A report of eight DMD patients presenting with chest pain, marked troponin elevation, and worsening cardiomyopathyJohnston, P. / Hor, K. / Cripe, L. / Stiver, C. et al. | 2017
-
Clustering trajectories of ambulatory function in the North Star clinical network databaseMuntoni, F. / Domingos, J. / Manzur, A. / Mayhew, A. / Guglieri, M. / Signorovitch, J. / Ward, S. et al. | 2017
-
A natural history study of Becker muscular dystrophy by the CINRG investigatorsClemens, P. / Gonzalez, N. / Morgenroth, L. / Smith, A. / Niizawa, G. / Florence, J. / Gorni, K. / Abdel-Hamid, H. / Guglieri, M. / Connolly, A. et al. | 2017
-
The multi-systemic protection against age-related tissue function decline in progeric mice through the attenuation of myostatin/activin signallingPatel, K. / Alyodawi, K. / Omairi, S. / Vermeij, W. / Kretz, O. / Salagna, F. / Huber, T. et al. | 2017
-
Rare phenotypes related to novel autosomal recessive TTN truncating mutations: Escobar syndrome and congenital heart defect in two Brazilian patientsGurgel-Giannetti, J. / Linhares, N. / Giannetti, A. / Santos, D. / Silva, L. / Pena, S. et al. | 2017
-
Unraveling upper extremity performance in DMD: a biophysical modelJanssen, M. / Harlaar, J. / Koopman, H. / de Groot, I. et al. | 2017
-
Congenital myopathy associated with the Triadin knockout syndromeEngel, A. / Redhage, K. / Tester, D. / Ackerman, M. / Selcen, D. et al. | 2017
-
Congenital myasthenia syndromes: clinical description of a pediatric cohortBénézit, A. / Sternberg, D. / Nicole, S. / Bauché, S. / Gitiaux, C. / Barnerias, C. / Rubinsztajn, R. / Bergounioux, J. / Mbieleu, B. / Ioos, C. et al. | 2017
-
Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective studyAragon-Gawinska, K. / Gargaun, E. / Seferian, A. / Gidaro, T. / Gilabert, S. / Lilien, C. / Vuillerot, C. / Cances, C. / Daron, A. / Marucco, E. et al. | 2017
-
Generation of biocompatible human artificial 3D skeletal muscle tissue from healthy and dystrophic pluripotent stem cellsMaffioletti, S. / Henderson, A. / Sarcar, S. / Mannhardt, I. / Moyle, L. / Ragazzi, M. / Wang, W. / Eschenhagen, T. / Tedesco, F. et al. | 2017
-
Engineering of a 3D bioartificial niche for adult satellite cells expansion: role of oxygen contentGattazzo, F. / Laurent, B. et al. | 2017
-
Quality of life in patients with facioscapulohumeral dystrophy type 1Moris, G. / Wood, L. / Gonzalez, J. / Fernandez-Torron, R. / Lochmüller, H. / Evangelista, T. et al. | 2017
-
Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapyNeri, M. / Selvatici, R. / Falzarano, M. / Trabanelli, C. / Ravani, A. / Rimessi, P. / Fabris, M. / Scotton, C. / Mauro, A. / Fortunato, F. et al. | 2017
-
Misdiagnosis and diagnostic delay in McArdle diseaseScalco, R. / Morrow, J. / Booth, S. / Chatfield, S. / Godfrey, R. / Quinlivan, R. et al. | 2017
-
Unusual findings in a TPM3 caseWillis, T. / Kulshrestha, R. / Curtis, E. / Sewry, C. et al. | 2017
-
Survival in myotonic dystrophy type 1 predicted by the new DM1 survival risk scoreWahbi, K. / Porcher, R. / Laforêt, P. / Fayssoil, A. / Stojkovic, T. / Leonard Louis, S. / Behin, A. / Furling, D. / Arnaud, P. / Sochala, M. et al. | 2017
-
C-terminal binding protein 1 (CtBP1) deficiency, mimicking congenital myopathy during infancyColomer, J. / De, B. / Ortez, C. / Jou, C. / Jiménez-Mallebrera, C. / Olivé, M. / Codina, A. / Alarcón, M. / Mamiesse, A. Fernández- / Corbera, J. et al. | 2017
-
Analytical validation (based on CLIA & CLSI standards) of utrophin-laminin α2 and MHCd-laminin α2 duplex immunohistochemical assays using Computational Tissue Analysis (cTA™) for evaluation of Duchenne muscular dystrophy therapeuticsFaelan, C. / Tinsley, J. / Milici, A. / Moore, S. / Patterson-Kane, J. et al. | 2017
-
Outcomes after 1-year in presymptomatic infants with genetically diagnosed spinal muscular atrophy (SMA) treated with nusinersen: interim results from the NURTURE studyHwu, W. / De, D. / Bertini, E. / Foster, R. / Gheuens, S. / Farwell, W. / Reyna, S. et al. | 2017
-
Respiratory insight to muscular dystrophy and relation in to clinical trialsFauroux, B. et al. | 2017
-
Title| 2017
-
Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathyVandersmissen, I. / Vander Stichele, G. / Biancalana, V. / Thielemans, L. et al. | 2017
-
Severe X-linked myotubular myopathy with unexpected inheritance from the grandfather and identification of necklace fibers in an asymptomatic maleHedberg-Oldfors, C. / Visuttijai, K. / Topa, A. / Tulinius, M. / Oldfors, A. et al. | 2017
-
Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian familyToscano, A. / Emmanuele, V. / Savarese, M. / Musumeci, O. / Torella, A. / Conca, E. / Moggio, M. / Nigro, V. / Rodolico, C. et al. | 2017
-
Dystrophin Dp71 is expressed in skeletal muscleKawaguchi, T. / Niba, E. / Rani, A. / Yoshida, S. / Sakakibara, S. / Maeda, N. / Sato, O. / Matsuo, M. et al. | 2017
-
Proteomic identification of novel brain and serum biomarkers linked to the pathophysiology of Duchenne muscular dystrophyMurphy, S. / Zweyer, M. / Dowling, P. / Henry, M. / Meleady, P. / Swandulla, D. / Ohlendieck, K. et al. | 2017
-
Living with late-onset Pompe disease: the patient and clinician point of viewPatel, N. / Sathe, S. / Dietze, D. / Viereck, C. / Barth, J. / Sitaraman, S. et al. | 2017
-
First case report of Nivolumab-induced dermatomyositisBourgeois Vionnet, J. / Joubert, B. / Bernard, E. / Fabien, N. / Sia, M. / Pante, V. / Honnorat, J. / Streichenberger, N. et al. | 2017
-
Genotype-phenotype correlation analysis in GNE myopathyPogoryelova, O. / Cammish, P. / Mansbach, H. / Lochmüller, H. et al. | 2017
-
Examining the relationship between Dixon quantitative MRI and physiotherapy functional outcome measures in dysferlinopathyFernandez Torron, R. / James, M. / Smith, F. / Azzabou, N. / Wilson, I. / Reyngoudt, H. / Mayhew, A. / Blamire, A. / Carlier, P. / Hilsden, H. et al. | 2017
-
Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2Bayram, A. / Stumpfe, K. / Wang, H. / Pergande, M. / Per, H. / Çırak, S. et al. | 2017
-
Broad clinical spectrum observed in patients with scapuloperoneal spinal muscular atrophy (SPSMA) caused by an c.806G > A (p. Arg269His) mutation in the TRPV4 geneJędrzejowska, M. / Dębek, E. / Halat, P. / Kostera-Pruszczyk, A. / Jezela-Stanek, A. / Ciara, E. / Rydzanicz, M. / Gasperowicz, P. / Gos, M. et al. | 2017
-
Phenotypic heterogeneity in patients with mutations in the IGHMBP2 geneGomez-Garcia de la Banda, M. / Felipe-Rucian, A. / Gomez, D. / Gratacos, M. / Sanchez-Montañez, A. / Gran, F. / Bernal, S. / Tizzano, E. / Gamez, J. / Munell, F. et al. | 2017
-
Adolescence with Duchenne and Becker muscular dystrophy: a cardiac magnetic resonance comparison studyJohnston, P. / Hor, K. / Cripe, L. et al. | 2017
-
A case of epidermolysis bullosa simplex and muscular dystrophy with myasthenic symptoms caused by two novel PLEC mutationsLee, J. / Shin, H. / Choi, Y. et al. | 2017
-
Complications of advanced Fukuyama congenital muscular dystrophy from a nationwide registryIshigaki, K. / Ihara, C. / Sato, T. / Shichiji, M. / Murakami, T. / Ishiguro, K. / Mori-Yoshimura, M. / Kaiya, H. / Osawa, M. / Nagata, S. et al. | 2017
-
The relation of respiratory and upper extremity functions in early stage of Duchenne muscular dystrophy: a pilot studyBulut, N. / Aydın, G. / Karaduman, A. / Alemdaroğlu, I. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
-
The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular centerSemplicini, C. / Bertolin, C. / Pantic, B. / Bello, L. / Vianello, S. / Catapano, F. / Colombo, I. / Moggio, M. / Sorarù, G. / Cenacchi, G. et al. | 2017
-
The association between muscle weakness and gait deviations in children with Duchenne muscular dystrophyGoudriaan, M. / Goemans, N. / Van den Hauwe, M. / Desloovere, K. et al. | 2017
-
Sh3kbp1 involvement during skeletal muscle fibers formation: a new candidate for centronuclear myopathiesGuiraud, A. / Couturier, N. / Buchman, V. / Durieux, A. / Arnould, D. / Christin, E. / Janczarski, S. / Bitoun, M. / Gache, V. et al. | 2017
-
ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004Gidaro, T. / Moraux, A. / Grelet, M. / Gasnier, E. / Villeret, M. / Annoussamy, M. / Vissing, J. / Attarian, S. / Mozaffar, T. / Iyadurai, S. et al. | 2017
-
Consistency of efficacy of Idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methodsMeier, T. / Leinonen, M. / Buyse, G. et al. | 2017
-
Infants and children with SMA treated with nusinersen in clinical trials: experience of risk for respiratory or other events with repeat anesthesia/sedation for intrathecal administrationFinkel, R. / Mercuri, E. / Chiriboga, C. / Kuntz, N. / Richman, S. / Bhan, I. / Hughes, S. / Foster, R. / Farwell, W. / Gheuens, S. et al. | 2017
-
Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH studyMercuri, E. / Finkel, R. / Kirschner, J. / Chiriboga, C. / Kuntz, N. / Sun, P. / Gheuens, S. / Bennett, C. / Schneider, E. / Farwell, W. et al. | 2017
-
Expanding importance of HMERF titinopathy: new mutations and clinical aspectsPalmio, J. / Leonard, S. / Sacconi, S. / Savarese, M. / Semmler, A. / Bach, J. / Kress, W. / Mozaffar, T. / Lai, T. / Stojkovic, T. et al. | 2017
-
Quantitative muscle ultrasound in two canine models of human myopathiesBarthélémy, I. / Piperno, O. / Cauchois, X. / Punzón, I. / Blot, S. et al. | 2017
-
Specific strength is reduced in facioscapulohumeral dystrophy muscles. An MRI-based musculoskeletal analysisHeskamp, L. / Marra, M. / Mul, K. / van Engelen, B. / Verdonschot, N. / Heerschap, A. et al. | 2017
-
Nintedanib as a new therapeutic agent for Duchenne muscular dystrophy: preclinical in vitro and in vivo studiesPiñol, P. / Fernández-Simón, E. / Suárez, X. / de Luna, N. / Molins, A. / de Oliva, N. / Martínez, A. / Escudero, L. / Sánchez, D. / Navarro, X. et al. | 2017
-
Highly variable ultrastructural findings in KBTBD13-nemaline myopathy (NEM6)Malfatti, E. / Voermans, N. / Kusters, B. / De, J. / Brochier, G. / Madelaine, A. / Lammens, M. / Van, B. / Ottenheijm, C. / Romero, N. et al. | 2017
-
Altered actin affinity – a possible disease-causing mechanism in NEB-related nemaline myopathyLehtonen, J. / Laitila, J. / Lehtokari, V. / Grönholm, M. / Wallgren-Pettersson, C. / Pelin, K. et al. | 2017
-
Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)Walker, G. / Butterfield, R. / Mathews, K. / Servais, L. / Day, J. / Gidaro, T. / Shukla, S. / Maggi, L. et al. | 2017
-
A novel copy number variation detection array for the diagnostics of neuromuscular disordersSagath, L. / Lehtokari, V. / Wallgren-Pettersson, C. / Pelin, K. / Kiiski, K. et al. | 2017
-
A case of childhood onset of treatable sensory neuronopathy caused by mutations in riboflavin transporter RFVT2 presenting as pure sensory ataxia with excellent response to riboflavin – a five year follow upKarachunski, P. / Dalton, J. / Molero-Ramirez, H. / Grames, M. et al. | 2017
-
Post-receptor abnormalities contribute to peripheral insulin resistance in myotonic dystrophy type 1 and type 2Renna, L. / Bosé, F. / Fossati, B. / Cavalli, M. / Meola, G. / Cardani, R. et al. | 2017
-
Functional fatigue in a sample of the UK myasthenic populationSelby, V. / Ramdharry, G. / Hogrel, J. / Milev, E. / Hanna, M. / Muntoni, F. et al. | 2017
-
Dystrophin Dp427 is lost due to multiple DMD intron retentions in rhabdomyosarcoma CRL-2061 cellsNiba, E. / Yamanaka, R. / Qawee, M. Abdul / Awano, H. / Matsumoto, M. / Nishio, H. / Matsuo, M. et al. | 2017
-
Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cellsGonzález-Jamett, A. / Baez-Matus, X. / Bui, M. / Guicheney, P. / Romero, N. / Caviedes, P. / Bitoun, M. / Bevilacqua, J. / Cárdenas, A. et al. | 2017
-
Are muscle volume and echo-intensity related to rate of force development in children with Duchenne muscular dystrophy?Goudriaan, M. / Schless, S. / Cenni, F. / van den Hauwe, M. / Goemans, N. / Desloovere, K. et al. | 2017
-
Alternative splicing in titin: new insights into exon usageSavarese, M. / Jonson, P. / Huovinen, S. / Auvinen, P. / Hackman, P. / Udd, B. et al. | 2017
-
Design of a phase 3 trial to evaluate the long-term efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophyRiebling, P. / O'Mara, E. / Luo, X. / Trifillis, P. / Ong, T. et al. | 2017
-
Neuron-derived hiPSC: an in vitro model for the development of a gene therapy for myotonic dystrophy type 1benichou, S. Ait / Jauvin, D. / Arzoumanov, A. / Varela, M. / Bennett, C. / Gait, M. / Wood, M. / Puymirat, J. et al. | 2017
-
Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeuticsFrank, D. / Dworzak, J. / Lawlor, M. / Lewis, S. / Sahenk, Z. / Stewart, M. / Kincaid, C. / Sewry, C. / Feng, L. / Phadke, R. et al. | 2017
-
Exercise profile in patients with SLC2A9 homozygous mutation and a history of exercise induced kidney failureScalco, R. / Manole, A. / Chatfield, S. / Booth, S. / Wigley, R. / Pattni, J. / Michalak, Z. / Desikan, M. / Godfrey, R. / Houlden, H. et al. | 2017
-
Report on nationwide Italian collaborative network for muscle glycogen storage disordersMusumeci, O. / Mongini, T. / Angelini, C. / Bruno, C. / Moggio, M. / Siciliano, G. / Tonin, P. / Maggi, L. / Martinuzzi, A. / Filosto, M. et al. | 2017
-
An unclassified congenital myopathy diagnosed as Snyder Robinson syndrome identified through the deciphering developmental disorders studyBownass, L. / Newbury-Ecob, R. / Love, S. / Urankar, K. / Study, D. / Vijayakumar, K. / Majumdar, A. et al. | 2017
-
Late onset multiple acyl-CoA dehydrogenase deficiency (MADD) myopathy misdiagnosed as polymyositisBarp, A. / Bellance, R. / Rigal, O. / Acquaviva-Bourdain, C. / Laforêt, P. et al. | 2017
-
A common dominant-negative COL6A1 pseudo-exon insertion is skippable using splice-modulating oligonucleotidesBolduc, V. / Foley, A. / Donkervoort, S. / Hu, Y. / Cummings, B. / Lek, M. / Sarathy, A. / Sizov, K. / Degefa, H. / Wagener, R. et al. | 2017
-
Clinicopathological features and management of Danon disease in Japan: a nationwide surveySugie, K. / Komaki, H. / Onoue, K. / Eura, N. / Shiota, T. / Tsukaguchi, H. / Namatame, S. / Koito, H. / Kiriyama, T. / Saito, Y. et al. | 2017
-
Results of a Japanese nationwide survey on congenital myotonic dystrophyShichiji, M. / Ishigaki, K. / Ishiguro, K. / Sato, T. / Murakami, T. / Matsumura, T. / Osawa, M. / Nagata, S. et al. | 2017
-
The MYO-SEQ project: Application of exome sequencing technologies of 1000 patients affected by limb-girdle weakness of unknown originJohnson, K. / Töpf, A. / Bertoli, M. / Phillips, L. / Blain, A. / Ensini, M. / Lek, M. / Xu, L. / Mullen, T. / Valkanas, E. et al. | 2017
-
Table of location of abstract topics ("The Tomé Table")| 2017
-
Antisense oligonucleotide-mediated Dnm2 knockdown delays myotubular myopathy in mice after a single injectionBuono, S. / Kretz, C. / Koch, C. / Robé, A. / Guo, S. / Monia, B. / Laporte, J. / Thielemans, L. / Cowling, B. et al. | 2017
-
Expression pattern and biological function of miR-379 in muscular dystrophySanson, M. / Mournetas, V. / Massourides, E. / Barthélémy, I. / Blot, S. / Pinset, C. / Richard, I. / Israeli, D. et al. | 2017
-
Antibody formation to enzyme replacement therapy in classic infantile Pompe disease: effects of immunomodulation in naïve patientsPoelman, E. / Hoogeveen–Westerveld, M. / Kroos-de Haan, M. / van den Hout, J. / Bronsema, K. / van de Merbel, N. / van der Ploeg, A. / Pijnappel, W. et al. | 2017
-
Inflammatory myopathy related to Chikungunya virus: a case reportMuelas, N. / Marti, P. / Azorin, I. / Gomis, C. / Poyatos, J. / Frasquet, M. / Vazquez, J. / Bataller, L. / Gomez, L. / Vilchez, R. et al. | 2017
-
Anti-HMGCR antibody positive myopathy shows bcl-2-positive lymphocyte folliclesKurashige, T. / Sumi, N. / Kanbara, T. / Ohta, M. / Sugiura, T. / Maruyama, H. / Torii, T. et al. | 2017
-
Antisense oligonucleotides promote exon inclusion and correct the common c.-32-13T > G (IVS1) GAA splicing variant in iPS-derived skeletal muscle cells from Pompe patientsPijnappel, W. / van der Wal, E. / Bergsma, A. / van Gestel, T. / Pijnenburg, J. / In 't Groen, S. / Zaehres, H. / Araúzo-Bravo, M. / Schöler, H. / van der Ploeg, A. et al. | 2017
-
Idiopathic inflammatory myopathies – increased expression of heat shock protein-90 in muscle tissue and plasma correlates with disease activity and skeletal muscle involvementZamecnik, J. / Storkanova, H. / Krystufkova, O. / Klein, M. / Mann, H. / Vernerova, L. / Spiritovic, M. / Senolt, L. / Vencovsky, J. / Tomcik, M. et al. | 2017
-
Impact of adipose-derived stem cells injection in a mouse model of inclusion body myositisFabry, V. / Sastourné-Arrey, Q. / Girousse, A. / Jeanson, Y. / Uro-Coste, E. / Cintas, P. / Casteilla, L. / Sengenès, C. et al. | 2017
-
Anti-Mi2 dermatomyositis revisited: pure DM phenotype with muscle fiber necrosis and high risk of malignancyLandon-Cardinal, O. / Monseau, G. / Schoindre, Y. / Rigolet, A. / Champtiaux, N. / Hervier, B. / Masseau, A. / Hachulla, E. / Papo, T. / Terrier, B. et al. | 2017
-
Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophyChabanon, A. / Annoussamy, M. / Daron, A. / Pereon, Y. / Cances, C. / Vuillerot, C. / Goemans, N. / Cuisset, J. / Laugel, V. / Schara, U. et al. | 2017
-
Myotubular/centronuclear myopathy patient registry: accelerating the pace of research and treatmentTakeuchi, F. / Bullivant, J. / Napier, K. / Radochonski, M. / Render, L. / Hunter, A. / Spring, M. / Lennox, A. / Bellgard, M. / Lochmüller, H. et al. | 2017
-
Expression of myofibrillar myopathy gene products in the nervous systemBlech-Hermoni, Y. / Coscia, S. / Jensen, L. / Kates, M. / Subedi, K. / Mankodi, A. et al. | 2017
-
Acylcarnitine profile mimicking multiple acyl-CoA dehydrogenase deficiency in a patient with mitochondrial myopathy and a mutation in MT-CO2Roos, S. / Sofou, K. / Hedberg-Oldfors, C. / Kollberg, G. / Lindgren, U. / Thomsen, C. / Asin-Cayuela, J. / Tulinius, M. / Oldfors, A. et al. | 2017
-
Effects of long-term treatment with eteplirsen on cardiac functionCripe, L. / Colan, S. / Eliopoulos, H. / Moody, S. / Mendell, J. et al. | 2017
-
COL6A genes transcriptomic by RNAseq and fluidic card toolsRossi, R. / Scotton, C. / Falzarano, M. / Armaroli, A. / Osman, H. / Neri, M. / Pesole, G. / Mora, M. / Pegoraro, E. / Merlini, L. et al. | 2017
-
DMD HUB: Expanding clinical trial capacity for Duchenne muscular dystrophy in the UKHeslop, E. / Straub, V. / Guglieri, M. / Turner, C. / Davis, B. / Crossley, E. / Johnson, A. / Bushby, K. et al. | 2017
-
Percutaneous endoscopic gastrostomy in patients with Duchenne muscular dystrophy compared with amyotrophic lateral sclerosis and Parkinson syndromeArahata, H. / Nishiyama, T. / Inada, K. / Miyoshi, A. / Watanabe, A. / Kawano, Y. / Sasagasako, N. / Fujii, N. et al. | 2017
-
Development of microdystrophins for gene therapy of DMDChamberlain, J. / Ramos, J. / Hollinger, K. / Crudele, J. / Bengtsson, N. / Hauschka, S. et al. | 2017
-
Development and sensibility evaluation of the muscular dystrophy child health index of life with disabilities questionnairePropp, R. / Weir, S. / Encisa, C. / Davis, A. / McAdam, L. / Salbach, N. / Narayanan, U. et al. | 2017
-
Identification and characterisation of ATP2A1 variants through whole exome sequencingJohnson, K. / Arroyo, A. Martinez / Zulaica, M. / Fernández-Torrón, R. / de Munain, A. Lopez / Töpf, A. / Bertoli, M. / Phillips, L. / Blain, A. / Ensini, M. et al. | 2017
-
New outcome measures for pain and fatigue during a typical day: pain and fatigue graphsJanssen, R. / Cup, E. / Packer, T. / Ijspeert, J. / van Alfen, N. / Groothuis, J. et al. | 2017
-
A case of mistaken diagnosis with serendipitous therapeutic implicationsSweeney, N. Mc / Carter, M. / Greene, A. / Mahony, O. O / Lynch, B. et al. | 2017
-
Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failureMariot, V. / Joubert, R. / Hourdé, C. / Féasson, L. / Hanna, M. / Muntoni, F. / Maisonobe, T. / Servais, L. / Panse, R. Le / Benveniste, O. et al. | 2017
-
Quantification of microdystrophin and correlation to circulating biomarkersBrown, K. / Lawlor, M. / Golebiowski, D. / Gonzalez, P. / Ricotti, V. / Schneider, J. / Morris, C. et al. | 2017
-
Associations between grip strength, myotonia and CTG expansion in myotonic dystrophy type 1Hogrel, J. / Ollivier, G. / Ledoux, I. / Hébert, L. / Eymard, B. / Puymirat, J. / Bassez, G. et al. | 2017
-
AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: decreased need of ventilatory and nutritional support at End-of-StudyShell, R. / Al-Zaidy, S. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Lowes, L. / Alfano, L. / Berry, K. / Church, K. / Kissel, J. et al. | 2017
-
Patient-derived pluripotent stem cells: an in vitro model for neuromuscular diseases and high-throughput drug screeningbenichou, S. Ait / Martineau, L. / Chahine, M. / Marquette, P. / Maziade, M. / Leblanc, A. / Puymirat, J. et al. | 2017
-
In vivo analysis of dystrophin (re-) expression in DmdEGFP and DmdEGFP-mdx reporter micePetkova, M. / Laplace-Builhé, C. / Goyenvalle, A. / Garcia, L. / Schuelke, M. / Amthor, H. et al. | 2017
-
A national French consensus on gene lists for NGS-based diagnosis of myopathiesKrahn, M. / Biancalana, V. / Michel-Calemard, L. / Nectoux, J. / Leturcq, F. / Seraphin, C. Bouchet / Bourdain-Acquaviva, C. / Froissart, R. / Melki, J. / Urtizberea, J. et al. | 2017
-
What is the prognosis after invasive ventilation for adult patients with a myotonic dystrophy type 1?Tard, C. / Jaillette, E. / Duva Pentiah, A. / Perez, T. / Mallart, A. / NGuyen, S. / Thevenon, A. / Danel Brunaud, V. / Preudhomme, M. et al. | 2017
-
Recessive mutations in novel gene MST01 cause early onset neuromuscular conditionSarkozy, A. / Zaharieva, I. / Nasca, A. / Scotton, C. / Selvatici, R. / Neri, M. / Magnusson, O. / Gal, A. / Weaver, D. / Armaroli, A. et al. | 2017
-
Genetic diagnosis of inherited peripheral neuropathies using gene panel testing: The utility of follow up familial testing in 4 years of experienceForrester, N. / Buxton, C. / Greenslade, M. / Vijayakumar, K. / Majumdar, A. et al. | 2017
-
Detailed natural history of the mdx-DBA modelvan Putten, M. / Overzier, M. / Putker, K. / Kogelman, B. / Adamzek, W. / van der Weerd, L. / Plomp, J. / Aartsma-Rus, A. et al. | 2017
-
A novel MTM1 mutation in a patient with X-linked myotubular myopathyRosa, T. / Domingues, J. / Iwabe-Marchese, C. / Martinez, A. / Mansur, E. / França, M. / Nucci, A. et al. | 2017
-
Satellite cell alteration in DNM2-related centronuclear myopathyAlmeida, C. / Bitoun, M. / Vainzof, M. et al. | 2017
-
Chronic progressive myopathy in a young patient with hyperkalemic periodic paralysisShin, H. / Jeong, H. / Kim, H. / Lee, J. / Choi, Y. et al. | 2017
-
Antibodies anti-ERT do not influence muscle fatty infiltration in a long cohort of patients with late onset Pompe diseaseFigueroa-Bonaparte, S. / Segovia, S. / Belmonte, I. / Pedrosa, I. / Montiel, E. / Llauger, J. / Alonso-Jimenez, A. / Gallardo, E. / Illa, I. / Diaz-Manera, J. et al. | 2017
-
Establishment of a panel for the evaluation of the dystrophic process by quantitative RT-PCRVaubourg, C. / Bellec, J. / Gicquel, E. / Lostal, W. / Richard, I. et al. | 2017
-
Identification of patients with late-onset Pompe disease (LOPD) based on muscle biopsy and clinical correlates: experience of a reference centreLubieniecki, F. / Taratuto, A. et al. | 2017
-
Dermatomyositis associated with hearing loss, peripheral nerve vasculitis and multi-system dysfunctionDhawan, P. / Naddaf, E. et al. | 2017
-
Muscle fiber dysfunction contributes to clinical muscle weakness in inclusion body myositisLassche, S. / Rietveld, A. / Heerschap, A. / Van Hees, J. / Hopman, M. / Saris, C. / Voermans, N. / Van Engelen, B. / Ottenheijm, C. et al. | 2017
-
POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?Rossi, R. / Scotton, C. / Barton, P. / Buchan, R. / Walsh, R. / Cook, S. / Milting, H. / Bonne, G. / Brand, T. / Ferlini, A. et al. | 2017
-
The recessive SOD1 mutation p.A90V may cause atypical motor neuron disease by oligogenic mechanismsJokela, M. / Penttilä, S. / Udd, B. et al. | 2017
-
CAV3 p.Ala93Thr pathogenic mutation causing hypertrophic cardiomyopathyScalco, R. / Savvatis, K. / Desikan, M. / Parton, M. / Turner, C. et al. | 2017
-
Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentationRehmann, R. / Schlaffke, L. / Kley, R. / Vorgerd, M. / Tegenthoff, M. et al. | 2017
-
Data analysis of dystrophinopathy national registry in JapanKimura, E. / Mori-Yoshimura, M. / Nakamura, H. / Komaki, H. / Nishino, I. / Takeda, S. et al. | 2017
-
Reducing body myopathy as a new phenotype of Filamin C mutationJanin, A. / Manel, V. / Millat, G. / Streichenberger, N. et al. | 2017
-
Adding quantitative muscle MRI to the FSHD clinical trial toolboxMul, K. / Vincenten, S. / Voermans, N. / van der Maarel, S. / Padberg, G. / Horlings, C. / van Engelen, B. et al. | 2017
-
TIEG1 is a novel regulator of muscle mitochondrial biogenesisKammoun, M. / Veksler, V. / Piquereau, J. / Bonne, G. / Beuvin, M. / Nelson, I. / Pouletaut, P. / Subramaniam, M. / Hawse, J. / Bensamoun, S. et al. | 2017
-
Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for cautionBloetzer, C. / Jacquier, D. / Klein, A. / Ivanyuk, A. / Segarra, N. Garcia et al. | 2017
-
Congenital muscular dystrophy in Taiwan: a referral center experienceLiang, W. / Tian, X. / Yuo, C. / Chen, W. / Kan, T. / Su, Y. / Nishino, I. / Wong, L. / Jong, Y. et al. | 2017
-
Long-term effects of TRPV2 inhibition therapy for cardiomyopathy of muscular dystrophyMatsumura, T. / Matsui, M. / Iwata, Y. / Asakura, M. / Saito, T. / Fujimura, H. / Sakoda, S. et al. | 2017
-
Electrophysiological and pathological studies of peripheral nerves in children with merosin-deficient congenital muscular dystrophy type 1ASaito, Y. / Ishiyama, A. / Takeshita, E. / Shimizu-Motohashi, Y. / Komaki, H. / Sugai, K. / Nishino, I. / Sasaki, M. et al. | 2017
-
A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophyReghan Foley, A. / Donkervoort, S. / Bolduc, V. / Hu, Y. / Cummings, B. / Lek, M. / Sarkozy, A. / Jimenez-Mallebrera, C. / Butterfield, R. / Lamande, S. et al. | 2017
-
Predictors of ambulation in patients with Duchene muscular dystrophyZapata Aldana, E. / Eltayeb, N. / Miller, M. / Campbell, C. et al. | 2017
-
Abolition of the NLRP3 inflammasome improves the dystrophic phenotype in a murine model of Duchenne muscular dystrophyBoursereau, R. / Abou-Samra, M. / Lecompte, S. / Noel, L. / Brichard, S. et al. | 2017
-
A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosisSanchez-Albisua, I. / Kaiser, O. / Rupprich, K. / Kölbel, H. / Della, A. / Schara, U. et al. | 2017
-
Development of novel observer-reported outcome assessments in clinical trials of patients with Duchenne muscular dystrophyMartin, D. / Macary, C. / Jones, C. / Walker, L. / O'Connor, M. / Thompson, E. / Gallitano, K. / Leffler, M. / McSherry, C. / Kosinski, M. et al. | 2017
-
Unexpected gene expression findings in the titinopathy mouse model FINmaj-KI using RNA-SeqJonson, P. / Krahe, R. / Richard, I. / Peng, B. / Hackman, P. / Udd, B. et al. | 2017
-
Consistency between natural history and clinical trial placebo arms for 48-week changes in six-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD)Mercuri, E. / Goemans, N. / Sajeev, G. / Yao, Z. / McDonnell, E. / Ward, S. / Signorovitch, J. et al. | 2017
-
Family impact and Health-Related Quality of Life (HRQoL) of parents and individuals with SMABelter, L. / Jarecki, J. / Hobby, K. / Teynor, M. et al. | 2017
-
Use of the Microsoft Kinect during motor function assessments of patients with Spinal muscular atrophy children: Kinect-MFM studyVincent-Genod, D. / Coton, J. / Rippert, P. / Thomann, G. / Vuillerot, C. et al. | 2017
-
Different kinetic profiles of 2 patients presenting with muscle b-enolase deficiencyWigley, R. / Scalco, R. / Gardiner, A. / Booth, S. / Chatfield, S. / Godfrey, R. / Desikan, M. / Kirk, R. / Hilton-Jones, D. / Houlden, H. et al. | 2017
-
The coexistence of eight D4Z4 repeat units and FAT1 mutation in facioscapulohumeral muscular dystrophyKim, K. / Lee, J. / Park, H. / Shin, H. / Kim, H. / Choi, Y. et al. | 2017
-
Identification of new inhibitors of misfolded alpha-sarcoglycan degradation by high-throughput screeningHoch, L. / Egespipe, A. / Marsolier, J. / Henriques, S. / Richard, I. / Nissan, X. et al. | 2017
-
Dose finding study in the DMDmdx rat model to determine the efficacious dose of a rAAV9 vector encoding a human mini-dystrophin after IV administrationGuiner, C. Le / McIntyre, M. / Larcher, T. / Adjali, O. / Lafoux, A. / Toumaniantz, G. / Wood, L. / Xiao, X. / Moullier, P. / Samulski, R. et al. | 2017
-
Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotypeFindlay, A. / Harms, M. / Pestronk, A. / Weihl, C. et al. | 2017
-
Infants and children with SMA treated with nusinersen in clinical trials: an integrated safety analysisMercuri, E. / Finkel, R. / Farrar, M. / Richman, S. / Foster, R. / Hughes, S. / Farwell, W. / Gheuens, S. et al. | 2017
-
CRISPR/Cas9-mediated genome editing corrects splicing alterations in myotonic dystrophy type 1Lo Scrudato, M. / Poulard, K. / Klein, A. / Tomé, S. / Martin, S. / Gourdon, G. / Furling, D. / Buj-Bello, A. et al. | 2017
-
Src tyrosine kinase as potential drug target in Duchenne muscular dystrophy: in vivo and in vitro preclinical studiesSanarica, F. / Mantuano, P. / Cozzoli, A. / Capogrosso, R. / Denora, N. / Cutrignelli, A. / Conte, E. / Giustino, A. / De Bellis, M. / Camerino, G. et al. | 2017
-
Cataract development associated with long term glucocorticoid therapy in DMD patientsRice, M. / Yang, M. / Horn, P. / Bange, J. / Wong, B. et al. | 2017
-
Generation of a new, inducible model of FSHD that develops overt myopathic phenotypesGiesige, C. / Heller, K. / Wallace, L. / Domire, J. / Eidahl, J. / Mukweyi, D. / Garwick-Coppens, S. / Guckes, S. / Rodino-Klapac, L. / Harper, S. et al. | 2017
-
SGT-001 Micro-dystrophin gene therapy for Duchenne muscular dystrophySchneider, J. / Gonzalez, J. / Brown, K. / Golebiowski, D. / Ricotti, V. / Quiroz, J. / Morris, C. et al. | 2017
-
CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathyBöhm, J. / Lornage, X. / Zanotti, S. / Cudia, P. / Schneider-Gold, C. / Malfatti, E. / Mora, M. / Laporte, J. et al. | 2017
-
Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexityBaldanzi, S. / Simoncini, C. / Ricci, G. / Angelini, C. / Siciliano, G. et al. | 2017
-
Whole-body rescue of Pompe disease with AAV liver delivery of engineered secretable GAA transgenesColella, P. / Puzzo, F. / Biferi, M. / Bali, D. / Paulk, N. / Vidal, P. / Collaud, F. / Simon-Sola, M. / Charles, S. / Hardet, R. et al. | 2017
-
High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogsDupont, J. / Guo, J. / Gray, J. / Buj-Bello, A. / Childers, M. / Mack, D. et al. | 2017
-
Potential role of exosomes in skeletal muscle fibrosisZanotti, S. / Gibertini, S. / Blasevich, F. / Saredi, S. / Bragato, C. / Ruggieri, A. / Mantegazza, R. / Maggi, L. / Mora, M. et al. | 2017
-
X-Linked myotubular myopathy (XLMTM): phenotypic variabilityOrtez, C. / Natera, D. / Colomer, J. / Itzep, D. / Alarcón, M. / Frongia, A. / Jou, C. / Codina, A. / Jimenez-Mallebrera, C. / Martorell, L. et al. | 2017
-
Interim analysis of an investigator-initiated multi-site late-onset Pompe disease screening studyWencel, M. / Goyal, N. / Mozaffar, T. et al. | 2017
-
Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S geneMoris, G. / Martinez, L. / Aurora, A. / Alvarez, V. et al. | 2017
-
Kv1.3 expression on effector memory T cells in sporadic inclusion body myositis: potential for targeted immunotherapy with dalazatideMozaffar, T. / Wencel, M. / Goyal, N. / Philips, C. / Olsen, C. et al. | 2017
-
Intramuscular injection of recombinant adeno-associated viral vectors expressing mutant MATR3 recapitulates pathological features of VCPDMZhang, X. / Yamashita, S. / Tawara, N. / Doki, T. / Zhang, Z. / Hara, K. / Matsuo, Y. / Nagai, M. / Ando, Y. et al. | 2017
-
Calpain-3 stability following delays in freezing skeletal muscle biopsy samples-stablishing an optimal time frame for accurate interpretationKennedy, P. / McLean, C. / Lamb, G. / Murphy, R. et al. | 2017
-
A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentationsLongman, C. / Farrugia, M. / Topf, A. / Hathazi, D. / Barresi, R. / Stewart, W. / Roos, A. / Horrocks, I. et al. | 2017
-
Corticosteroid treatment in early-onset lamin A/C related muscular dystrophiesDabaj, I. / Ben Yaou, R. / Bönnemann, C. / Nascimento, A. / Rutkowski, A. / Erazo Torricelli, R. / Muntoni, F. / Lagrue, E. / Dowling, J. / Bushby, K. et al. | 2017
-
Simple and fast drawing of regions of interest in leg muscles NMR imagesBaudin, P. / Beyeler, M. / Carlier, P. / Scheidegger, O. et al. | 2017
-
Mouse model of BAG3 myofibrillar myopathyRobertson, R. / Conte, T. / Dicaire, M. / Bryson-Richardson, R. / Lavoie, J. / O'Ferrall, E. / Young, J. / Brais, B. et al. | 2017
-
Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1Darin, N. / Hedberg-Oldfors, C. / Kroksmark, A. / Moslemi, A. / Kollberg, G. / Oldfors, A. et al. | 2017
-
Identification of therapies for myofibrillar myopathyRuparelia, A. / Williams, C. / McKaige, E. / Oorschot, V. / Baxter, E. / Schulze, K. / Ramm, G. / Bryson-Richardson, R. et al. | 2017
-
Long-term benefits of glucocorticoids in Duchenne muscular dystrophy: is it worth it?McDonald, C. / Henricson, E. / Abresch, R. / Duong, T. / Joyce, N. / Hu, F. / Clemens, P. / Hoffman, E. / Cnaan, A. / Gordish-Dressman, H. et al. | 2017
-
Relationships between ambulatory function and body composition in patients with Duchenne muscular dystrophyWong, B. / Signorovitch, J. / Hu, S. / Bange, J. / Rybalsky, I. / Shellenbarger, K. / Tian, C. / Swallow, E. / Song, J. / Ward, S. et al. | 2017
-
Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophyBencze, M. / Meng, J. / Pini, V. / Conti, F. / Muntoni, F. / Morgan, J. et al. | 2017
-
Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohortBeecroft, S. / Choi, R. / McLean, C. / Olive, M. / Ryan, M. / Davis, M. / Laing, N. / Launikonis, B. / Ravenscroft, G. et al. | 2017
-
Editorial Board| 2017
-
Vacuolar necklace muscle fibers – a new variant?Rinnenthal, J. / Dittmayer, C. / Irlbacher, K. / Hahn, K. / Wacker, I. / Stenzel, W. / Goebel, H. et al. | 2017
-
A multicenter, retrospective medical record review of patients with X-Linked Myotubular myopathy (XLMTM): the RECENSUS studyBeggs, A. / Byrne, B. / de Chastonay, S. / Haselkorn, T. / Hughes, I. / James, E. / Kuntz, N. / Simon, J. / Swanson, L. / Yang, M. et al. | 2017
-
The Brody disease cohort study: clarification of the phenotypeMolenaar, J. / Verhoeven, J. / Voermans, N. / Mathieu, J. / Vattemi, G. / Franques, J. / Kuntzer, T. / Guyant-Marechal, L. / Vicart, S. / Behin, A. et al. | 2017
-
Monitoring physical activity using a wearable device in Pompe diseaseHamed, A. / Curran, C. / DasMahapatra, P. et al. | 2017
-
Anti-mitochondrial antibodies are not a hallmark for severity in inflammatory myopathiesMauhin, W. / Mariampillai, K. / Allenbach, Y. / Musset, L. / Charuel, J. / Benveniste, O. et al. | 2017
-
A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM)Lochmüller, H. / Behin, A. / Caraco, Y. / Lau, H. / Mirabella, M. / Tournev, I. / Tarnopolsky, M. / Pogoryelova, O. / Shah, J. / Koutsoubos, T. et al. | 2017
-
Novel binding partner of dysferlin is required for plasma-membrane repairOno, H. / Suzuki, N. / Kanno, S. / Izumi, R. / Takahashi, T. / Kitajima, Y. / Osana, S. / Akiyama, T. / Ikeda, K. / Shijo, T. et al. | 2017
-
Establishment of novel autoimmune animal model for sporadic inclusion body myositisTawara, N. / Yamashita, S. / Zhang, X. / Zhang, Z. / Doki, T. / Matsuo, Y. / Nakane, S. / Maeda, Y. / Ando, Y. et al. | 2017
-
CNTNAP1: Extending the phenotype of congenital hypomyelinating neuropathy in 6 further patientsLow, K. / Stals, K. / Caswell, R. / Clayton-Smith, J. / Donaldson, A. / Foulds, N. / Splitt, M. / Norman, A. / Urankar, K. / Vijayakumar, K. et al. | 2017
-
Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterationsMasingue, M. / Vatier, C. / Jéru, I. / Latour, P. / Jardel, C. / Laforêt, P. / Eymard, B. / Vigouroux, C. / Stojkovic, T. et al. | 2017
-
Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish populationNatera-de Benito, D. / Alarcon, M. / Borrás, A. / Armas, J. / Frongia, A. / Itzep, D. / Vigo, M. / Medina, J. / Ortez, C. / Colomer, J. et al. | 2017
-
Differential expression of microRNAs in spinal muscular atrophy points towards significant peripheral organ involvement in the diseaseZhou, H. / Scoto, M. / Catapano, F. / Zahariewa, I. / Muntoni, F. et al. | 2017
-
The influence of personal assistance on employment outcomes for young adults with neuromuscular diseaseWolff, J. / Shaw, L. et al. | 2017
-
Men with Duchenne muscular dystrophy and end of life planningAbbott, D. / Prescott, H. / Forbes, K. / Fraser, J. / Majumdar, A. et al. | 2017
-
31P and 1H nuclear magnetic resonance spectroscopy characterization of skeletal muscle pH dysregulation in Duchenne muscular dystrophy patients at restReyngoudt, H. / Turk, S. / Carlier, P. et al. | 2017
-
A novel BAG3 mutation associated with myofibrillar myopathy emphasizes HSP70 dependent activityBengoechea, R. / Motley, W. / Bird, S. / Zuchner, S. / Scherer, S. / Weihl, C. et al. | 2017
-
Magnetic resonance biomarkers in the proximal and distal upper extremity in a large cohort of boys with Duchenne muscular dystrophyWillcocks, R. / Forbes, S. / Lott, D. / Senesac, C. / Arora, H. / Barnard, A. / Harrington, A. / Daniels, M. / Finanger, E. / Tennekoon, G. et al. | 2017
-
Integrated genome analysis of COX deficiency in JapanTakayama, K. / Iida, A. / Noguchi, S. / Nonaka, I. / Goto, Y. / Nishino, I. et al. | 2017
-
Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophyDoorenweerd, N. / Mahfouz, A. / van Putten, M. / Kaliyaperumal, R. / Hendriksen, J. / Aartsma-Rus, A. / Verschuuren, J. / Niks, E. / Reinders, M. / Kan, H. et al. | 2017
-
Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disordersRoos, A. / Senderek, J. / Cox, D. / Wiessner, M. / Zahedi, R. / Charlton, R. / Barresi, R. / Hathazi, D. / Lochmüller, H. et al. | 2017
-
Bethlem myopathy, the other side of collagen VI myopathiesMartins, A. / Almeida, M. / Geraldo, A. / Matos, A. / Negrao, L. et al. | 2017
-
Body composition of patients with Duchenne muscular dystrophyWong, B. / Hu, S. / Horn, P. / Rybalsky, I. / Shellenbarger, K. / Tian, C. / Bange, J. / Kalkwarf, H. et al. | 2017
-
Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficultiesGuillet-Pichon, V. / Leturcq, F. / Claeys, K. / Beroud, C. / Nadaj-Pakleza, A. et al. | 2017
-
Clinical aspects of excitation-contraction coupling (ECC) disordersJungbluth, H. et al. | 2017
-
Skeletal muscle oxidative stress is related to functional outcome measures in ryanodine receptor 1-related congenital myopathiesTodd, J. / Witherspoon, J. / Razaqyar, M. / Chrismer, I. / Kuo, A. / Shelton, M. / Grunseich, C. / Mankodi, A. / Kokkinis, A. / Waite, M. et al. | 2017
-
Finding clinical meaning in patient-reported functional health: development of the Duchenne muscular dystrophy lifetime mobility scaleHenricson, E. / McDonald, C. / Mayhew, A. / Bagley, A. / Joyce, N. / Oskarsson, B. / Sodeberg-Miller, L. / Liu, S. / Abresch, R. / Investigators, .. CINRG et al. | 2017
-
Slow relaxation kinetics of sarcomeres contribute to muscle slowness in NEM6 patientsde Winter, J. / Molenaar, J. / Lassche, S. / Malfatti, E. / Romero, N. / Persson, M. / Rassier, D. / van Engelen, B. / Voermans, N. / Ottenheijm, C. et al. | 2017
-
Estrogens as a potential disease modifier in FSHD: a retrospective clinical studyPuma, A. / Garibaldi, M. / Teveroni, E. / Deidda, G. / Moretti, F. / Sacconi, S. et al. | 2017
-
Clinical gene panel in UNIFE patients orphans of genetic diagnosisNeri, M. / Selvatici, R. / Scotton, C. / Storbeck, M. / Vezyroglou, K. / Heller, R. / Tugnoli, V. / Bigoni, S. / Timmerman, V. / Wirth, B. et al. | 2017
-
AT-300, a calcium modulator, improves muscle force production and decreases muscle degeneration in D2-mdx model of Duchenne muscular dystrophyBush, E. / Ward, C. / Suchyna, T. / Sacks, F. / Blaustein, M. / Escolar, D. et al. | 2017
-
Genetic and phenotypic diversity in a panel of seven new DMD mouse models in the founder strains of the Collaborative CrossBogdanik, L. / Carpentier, K. / Cantor, L. / Lutz, C. et al. | 2017
-
Recessive myopalladin mutations cause congenital cap myopathy with unusual rodsMalfatti, E. / Lornage, X. / Chéraud, C. / Schneider, R. / Biancalana, V. / Cuisset, J. / Garibaldi, M. / Eymard, B. / Fardeau, M. / Boland, A. et al. | 2017
-
Tacrolimus treatment in patients with long-standing ocular myasthenia gravisOh, S. et al. | 2017
-
"Core-rod" congenital myopathy with bilateral foot-drop. A challenging clinical and genetic diagnosisMonges, S. / Lubieniecki, F. / Leal, C. Paz Vargas / de Castro, F. / Aguerre, V. / Mozzoni, J. / Foncuberta, E. / Monnier, N. / Böhm, J. / Laporte, J. et al. | 2017
-
Muscular fat fraction correlates with functionality in myotonic dystrophy type 1Heskamp, L. / van Nimwegen, M. / Bassez, G. / Jimenez-Moreno, A. / Ploegmakers, M. / Deux, J. / Gorman, G. / Lochmüller, H. / Catt, M. / van Engelen, B. et al. | 2017
-
Getting ready for clinical trials in myotonic dystrophy type 1 with the validation of functional outcome measuresJimenez-Moreno, A. / Nikolenko, N. / Moat, D. / Mayhew, A. / Massey, C. / Gorman, G. / Newman, J. / Kierkegaard, M. / Atalaia, A. / Turner, C. et al. | 2017
-
Contribution of the NGS analysis to the hyperCKemiaMarti, P. / Muelas, N. / Jaijo, T. / Millan, J. / Azorin, I. / Vilchez, J. et al. | 2017
-
Success of preclinical drug trials using reliable and reproducible endpoints in mouse models of neuromuscular diseasesNagaraju, K. / Mullen, A. / MacKinnon, A. / Uaesoontrachoon, K. / Hoffman, E. / Srinivassane, S. et al. | 2017
-
Axial myopathy: clinical and histopathological features in 7 patientsShin, J. / Choi, S. / Ahn, S. / Lim, S. / Sung, J. et al. | 2017
-
Mitochondrial analysis in wild-type TDP-43 transgenic mice mimicking sporadic inclusion body myositisZhang, Z. / Yamashita, S. / Tawara, N. / Kawakami, K. / Doki, T. / Matsuo, Y. / Zhang, X. / Maeda, Y. / Ando, Y. et al. | 2017
-
Sporadic inclusion body myositis: A polygenic disorder?Johari, M. / Arumilli, M. / Savarese, M. / Palmio, J. / Tasca, G. / Mirabella, M. / Maggi, L. / Hackman, P. / Udd, B. et al. | 2017
-
Usefulness of cytoplasmic 5'- nucleotidase 1A autoantibodies for diagnosing patients with inclusion body myositisIkenaga, C. / Kadoya, M. / Kubota, A. / Shimizu, J. et al. | 2017
-
North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathyJames, M. / Mayhew, A. / Eagle, M. / Muni Lofra, R. / Maron, E. / Gee, R. / Harman, M. / Duong, T. / Vandevelde, B. / Siener, C. et al. | 2017
-
Falls in children and adolescents with Charcot-Marie-Tooth disease and typically developing children: a six month prospective studyCarroll, K. / McGinley, J. / Paterson, K. / Ryan, M. / Kennedy, R. et al. | 2017
-
Clinical and molecular spectrum of early onset LMNA-related muscular dystrophy in KoreaChoi, S. / Cho, A. / Kim, S. / Lim, B. / Kim, H. / Hwang, H. / Kim, K. / Chae, J. et al. | 2017
-
Patient's perception around disease progression and influential factors in spinal muscle atrophyMuni Lofra, R. / Eagle, M. / Fort, A. / Ramsey, D. / Scoto, M. / Muntoni, F. / Bushby, K. / Lochmüller, H. / Straub, V. / Mayhew, A. et al. | 2017
-
Understanding decision needs for respiratory interventions in paediatric neuromuscular disordersLove, D. / Mabaya, G. / Katz, S. / Lawson, M. / Price, A. / Radhakrishnan, D. / Mah, J. / Korngut, L. / McMillan, H. / Scholtes, C. et al. | 2017
-
Usefulness of MRI in cases of hyperCKemiaMarti, P. / Muelas, N. / Diaz-Manera, J. / Vilchez, J. et al. | 2017
-
Comprehensive genome analysis of Japanese patients with myofibrillar myopathyInoue, M. / Iida, A. / Noguchi, S. / Nonaka, I. / Nishino, I. et al. | 2017
-
Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) geneSchänzer, A. / Rupp, S. / Mall, G. / Akintürk, H. / Schramz, D. / Gulatz, L. / Thul, J. / Mazhari, N. / Hahn, A. et al. | 2017
-
Translational biochemistry for dystroglycanopathiesWang, H. / Sprute, R. / Daimagüler, H. / Cirak, S. et al. | 2017
-
Novel mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbsAfonso Ribeiro, J. / Almendra, L. / Rebelo, O. / Laranjeiro, F. / Marmiesse, A. / Almeida, M. / Peres, M. / Geraldo, A. / Matos, A. / Negrao, L. et al. | 2017
-
Analysis of mortality in a cohort of adult Duchenne muscular dystrophyNastase, L. / Desikan, M. / Price, S. / Crummy, F. / Kahn, J. / Quinlivan, R. et al. | 2017
-
Brain imaging indicates genotype-phenotype association in Duchenne muscular dystrophyDoorenweerd, N. / Bettolo, C. / Hollingsworth, K. / Hendriksen, J. / Niks, E. / Straub, V. / Kan, H. et al. | 2017
-
Connexin-based hemichannels are key factors in the pathological mechanism underlying dysferlinopathyFernández, G. / Bevilacqua, J. / Cardenas, A. / Sáez, J. / Caviedes, P. / Cea, L. et al. | 2017
-
Audit of unplanned hospital admissions for patients with neuromuscular disorders in Cumbria and the north east of EnglandElliott, E. / Guglieri, M. / Evangelista, T. / Lochmüller, H. / Straub, V. / Bushby, K. / Marini-Bettolo, C. et al. | 2017
-
WVE-210201, an investigational stereopure oligonucleotide therapy for Duchenne muscular dystrophy, induces Exon 51 skipping and dystrophin protein restorationWood, M. / Zhang, J. / Bowman, K. / Butler, D. / Rinaldi, C. / McClorey, G. / Frank-Kamenetsky, M. / Iwamoto, N. / Kothari, N. / Lu, G. et al. | 2017
-
Performance of the upper limb module for Chinese patients with Duchenne muscular dystrophy: a new useful clinical tool to monitor the disease progress and as an outcome measure for therapeutic drug trialChiu, Y. / Choi, W. / Hui, C. / Li, S. / Lee, S. / Chan, S. et al. | 2017
-
CXCL12 and osteopontin from bone marrow-derived mesenchymal stromal cells improve muscle regeneration by influencing upon muscle satellite cell and myoblastMaeda, Y. / Yonemochi, Y. / Nakajyo, Y. / Hidaka, H. / Ikeda, T. / Ando, Y. et al. | 2017
-
Feasibility and validation of modified oculobulbar facial respiratory score (mOBFRS) in amyotrophic lateral sclerosis (ALS) and sporadic inclusion body myositis (sIBM)Wencel, M. / Araujo, N. / Mozaffar, T. / Goyal, N. et al. | 2017
-
Stunning pharmacological properties of DS-5141b, an antisense oligonucleotide consisting of 2'-O, 4'-C-ethylene-bridged nucleic acids and 2'-O-methyl RNA, on dystrophin mRNA exon skippingTakaishi, K. / Kakuta, M. / Ito, K. / Kanda, A. / Takakusa, H. / Miida, H. / Masuda, T. / Nakamura, A. / Onishi, Y. / Onoda, T. et al. | 2017
-
Meta-analysis of two clinical trials with idebenone in patients with Duchenne muscular dystrophy (DMD): impact on respiratory declineMeier, T. / Leinonen, M. / Buyse, G. et al. | 2017
-
A phase 2 trial of the safety and pharmacokinetics of ataluren in patients aged 2 to 5 years with nonsense mutation Duchenne muscular dystrophyRiebling, P. / Kong, R. / O'Mara, E. / Luo, X. / Trifillis, P. / Ong, T. et al. | 2017
-
Regulation of facioscapulohumeral muscular dystrophy candidate protein DUX4Eidahl, J. / Hoover, M. / Branson, O. / Freitas, M. / Harper, S. et al. | 2017
-
Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamideMunot, P. / Zaharieva, I. / Hartley, L. / Phadke, R. / Sewry, C. / Feng, L. / Sud, R. / Hanna, M. / Matthews, E. / Muntoni, F. et al. | 2017
-
Development of primary human satellite cells into an advanced therapeutic medicinal product (ATMP)Spuler, S. / Marg, A. / Kieshauer, J. / Schoewel, V. / Vaegler, M. et al. | 2017
-
Myd & Eat: a multidisciplinary intervention for myotonic dystrophy regarding food intake and nutritionvan Hees, S. / Knuijt, S. / Dicke, H. / Satink, T. / Raaphorst, J. / Groothuis, J. / Cup, E. et al. | 2017
-
Discovery of small molecule utrophin modulators for the therapy of Duchenne muscular dystrophyWynne, G. / Vuorinen, A. / Emer, E. / Conole, D. / Chatzopoulou, M. / Davies, S. / Russell, A. / Guiraud, S. / Squire, S. / Berg, A. et al. | 2017
-
Utilizing transcriptome sequencing to identify causes of neuromuscular diseaseGonorazky, H. / Naumenko, S. / Ohri, K. / Ramani, A. / Brudno, M. / Dowling, J. et al. | 2017
-
Using a traffic light system to aid advance care planning in neuromuscular patientsVithlani, R. / Bassie, C. / Willis, T. / Kulshrestha, R. et al. | 2017
-
Assessment of chewing function and investigation reliability of Karaduman chewing performance scale in pediatric neuromuscular diseasesSerel Arslan, S. / Aydın, G. / Alemdaroğlu, I. / Yılmaz, O. / Karaduman, A. et al. | 2017
-
European reference network for rare neuromuscular diseases: EURO-NMDEvangelista, T. / Leary, R. / Hails, M. / Lochmüller, H. / Bushby, K. et al. | 2017
-
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremorKariminejad, A. / Dahl-Halvarsson, M. / Ravenscroft, G. / Afroozan, F. / Keshavarz, E. / Goullée, H. / Davis, M. / Laing, N. / Tajsharghi, H. et al. | 2017
-
The reliability and validity of Turkish version of pedsQL multidimensional fatigue scale in Duchenne muscular dystrophyAlemdaroğlu, I. / Bulut, N. / Bozgeyik, S. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
-
Validation of a prognostic score for changes in six-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD)Goemans, N. / Hauwe, M. vanden / Sajeev, G. / Yao, Z. / McDonnell, E. / Ward, S. / Signorovitch, J. et al. | 2017
-
Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB geneNascimento, A. / Ortez, C. / Natera, D. / Frongia, A. / Alarcon, M. / Itzep, D. / Jou, C. / Codina, A. / Corbera, J. / Jimenez – Mallebrera, C. et al. | 2017
-
Edasalonexent (CAT-1004), an NF-kB inhibitor, enhances myotube formation in vitro, and increases exon-skipped sarcolemmal dystrophin in muscle of mdx miceNichols, A. / Reilly, J. / Liu, F. / Bista, P. / Lee, D. / Webb, S. / Picarella, D. / Wood, J. / Yao, M. / Passini, M. et al. | 2017
-
A series of case reports from JEWELFISH, an open-label study to investigate the safety, tolerability, and pharmacokinetics/ pharmacodynamics of RG7916 in adult and pediatric patients with spinal muscular atrophy who previously participated in a study with another SMN2-targeting therapyChiriboga, C. / Mercuri, E. / Fischer, D. / Marquet, A. / Kraus, D. / Alexander, M. / Cho, A. / Armstrong, G. / Kletzl, H. / Czech, C. et al. | 2017
-
MoveDMD: phase 2 trial of edasalonexent, an NF-κB inhibitor, in 4 to 7-year old patients with Duchenne muscular dystrophyFinkel, R. / Vandenborne, K. / Sweeney, H. / Finanger, E. / Tennekoon, G. / Shieh, P. / Willcocks, R. / Forbes, S. / Triplett, W. / Yum, S. et al. | 2017
-
Effects of long-term eteplirsen treatment on upper limb function in patients with Duchenne muscular dystrophy: findings of two phase 2 clinical trialsAlfano, L. / Berry, K. / Mendell, J. / Eliopoulos, H. / Han, L. / Lowes, L. et al. | 2017
-
Mitochondrial dysfunction in oculopharyngeal muscular dystrophyDoki, T. / Yamashita, S. / Wei, F. / Zhang, X. / Zhang, Z. / Tawara, N. / Hino, H. / Uyama, E. / Aaki, K. / Tomizawa, K. et al. | 2017
-
Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA)Servais, L. / Farrar, M. / Finkel, R. / Kirschner, J. / Muntoni, F. / Sun, P. / Gheuens, S. / Schneider, E. / Farwell, W. et al. | 2017
-
AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestonesMendell, J. / Al-Zaidy, S. / Shell, R. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Lowes, L. / Alfano, L. / Berry, K. / Church, K. et al. | 2017
-
Effects of botulinum toxin injections in the cricopharyngeal muscle of OPMD and IBM myopathies with dysphagiaWitting, N. / Daugaard, D. / Prytz, S. / Vissing, J. et al. | 2017
-
Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinicArdicli, D. / Nowak, K. / Haliloglu, G. / Goullee, H. / Davis, M. / Talim, B. / Laing, N. / Topaloğlu, H. et al. | 2017
-
Integrated analysis of the large-scale sequencing project "Myocapture" to identify novel genes for myopathiesBöhm, J. / Schneider, R. / Malfatti, E. / Schartner, V. / Lornage, X. / Nelson, I. / Bonne, G. / Eymard, B. / Nectoux, J. / Leturcq, F. et al. | 2017
-
SPEG deficiency is associated with muscle weakness, triad defect, abnormal calcium handling and EC couplingHuntoon, V. / Widrick, J. / Sanchez, C. / Kutchukian, C. / Cao, S. / Beggs, A. / Jacquemond, V. / Agrawal, P. et al. | 2017
-
PhaseOut DMD: a Phase 2, proof of concept, clinical study of utrophin modulation with ezutromidMuntoni, F. / Maresh, K. / Davies, K. / Harriman, S. / Layton, G. / Rosskamp, R. / Russell, A. / Tejura, B. / Tinsley, J. et al. | 2017
-
Development of a MBNLΔ decoy-based gene therapy for myotonic dystrophyMatloka, M. / Arandel, L. / Rau, F. / Marie, J. / Ferry, A. / Sergeant, N. / Furling, D. et al. | 2017
-
Dynamic assessment of muscle perfusion, deoxymyoglobin and phosphorylated metabolites concentrations through fast interleaved NMR acquisitions with a clinical 3T scannerKolkovsky, A. Lopez / Marty, B. / Coppa, B. / Giacomini, E. / Carlier, P. et al. | 2017
-
Identification of serum protein biomarkers for utrophin based DMD therapyGuiraud, S. / Edwards, B. / Squire, S. / Babbs, A. / Shah, N. / Berg, A. / Chen, H. / Davies, K. et al. | 2017
-
Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenitalSuetterlin, K. / Sud, R. / Burge, J. / McCall, S. / Fialho, D. / Haworth, A. / Sweeney, M. / Houlden, H. / Schorge, S. / Matthews, E. et al. | 2017
-
Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase muscle strength in a mouse model of Pompe diseaseXu, S. / Lun, Y. / Nair, A. / Frascella, M. / Garcia, A. / Soska, R. / Ponery, A. / Schilling, A. / Della Valle, C. / Feng, J. et al. | 2017
-
Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapyHuizing, M. / Leoyklang, P. / Class, B. / Ciccone, C. / Glowacki, A. / Jodarski, C. / Perrault, J. / Gahl, W. / Carrillo, N. / Malicdan, M. et al. | 2017
-
Palliative care in children with spinal muscular atrophy type 1: how do they die? Results from a French multicentric study (National Hospital Clinical Research Program)Hully, M. / Barnerias, C. / Vanesse, S. / Viallard, M. / Desguerre, I. et al. | 2017
-
Role of muscle satellite cells in Spinal muscular atrophy physiopathologyMecca, J. / Astord, S. / Marais, T. / Relaix, F. / Didier, N. / Barkats, M. et al. | 2017
-
Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2)Schottlaender, L. / Scoto, M. / Imbrigiotta, N. / Davis, T. / Main, M. / Munot, P. / Sarkozy, A. / Manzur, A. / Muntoni, F. et al. | 2017
-
Palliative medicine and neuromuscular disorders in adults- pilot symptom control clinic patient satisfaction and intervention efficacyWillis, D. / Easthope-Mowatt, Y. / Bassie, C. / McFarlane, M. / Kulshresthra, R. / Willis, T. et al. | 2017
-
Registry of congenital neuromuscular disorders in Japan: establishment and implementationIshiyama, A. / Kimura, E. / Nakamura, H. / Komaki, H. / Sasaki, M. / Nishino, I. et al. | 2017
-
Muscle MRI findings in spinal muscular atrophy type 3Karasoy, H. / Ozkan, T. / Argin, M. / Yuceyar, A. / Ekmekci, O. et al. | 2017
-
Correlation of serum biomarkers and magnetic resonance spectroscopy (MRS) in monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) due to mtDNA A3243G mutationLee, H. / Lee, Y. et al. | 2017
-
Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutationSframeli, M. / La Rosa, M. / Distefano, M. / Barcellona, C. / Vita, G. / Nicocia, G. / Astrea, G. / D'Amico, A. / Bertini, E. / Santorelli, F. et al. | 2017
-
A rare form of congenital muscle disorders; megakonial congenital muscular dystrophyAksoy, A. / Köken, Ö. / Özyürek, H. / Talim, B. et al. | 2017
-
The effects of calf massage in boys with Duchenne muscular dystrophyde Valle, K. / Yiu, E. / Ryan, M. / Kornberg, A. / Kennedy, R. / Villano, D. / Carroll, K. et al. | 2017
-
The impact of an interdisciplinary DMD clinic model on volume of care recommendationsMcAdam, L. / Setchell, J. / Thille, P. / Abrams, T. / Mistry, B. / Gibson, B. et al. | 2017
-
Acute effect of muscle facilitation application on performance and energy expenditure in Duchenne muscular dystrophyAydın, G. / Alemdaroğlu, I. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
-
The relation of postural alignment and energy expenditure in boys with Duchenne muscular dystrophyBozgeyik, S. / Alemdaroğlu, I. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
-
A new AAV10-mediated gene therapy for SOD1-linked ALSBiferi, M. / Cohen-Tannoudji, M. / Cappelletto, A. / Giroux, B. / Roda, M. / Astord, S. / Marais, T. / Ferry, A. / Voit, T. / Barkats, M. et al. | 2017
-
A novel approach to genotype-phenotype profiling for ryanodine receptor 1-related myopathiesShelton, M. / Witherspoon, J. / Allen, C. / Razaqyar, S. / Cortes, M. / Chrismer, I. / Meilleur, K. et al. | 2017
-
Adult onset recessive titinopathy with EDMD-like phenotype mimicking an acquired myositisKapetanovic, S. / Varona, L. / Septien, K. / Fernandez, M. / Gallardo, E. / Idoate, M. / Barcina, M. Garcia et al. | 2017
-
Functional characterisation of p.Trp284Ser STAC3 mutation causing impaired excitation-contraction coupling in congenital myopathy patientsZaharieva, I. / Sarkozy, A. / Manzur, A. / Munot, P. / Jungbluth, H. / Feng, L. / Phadke, R. / Sewry, C. / Treves, S. / Muntoni, F. et al. | 2017
-
Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?James, M. / Jacobs, M. / Mayhew, A. / Feng, J. / Spuler, S. / Day, J. / Jones, K. / Bharucha-Goebel, D. / Salort-Campana, E. / Pestronk, A. et al. | 2017
-
The gross motor function measure is valid for Fukuyama congenital muscular dystrophySato, T. / Adachi, M. / Nakamura, K. / Zushi, M. / Goto, K. / Murakami, T. / Ishiguro, K. / Shichiji, M. / Saito, K. / Ikai, T. et al. | 2017
-
Development of a specific home based assessment tool for monitoring fluctuations in physical function and muscle performance in adult and paediatric myasthenia patientsSelby, V. / Ramdharry, G. / Hanna, M. / Muntoni, F. et al. | 2017
-
Multi-system disorder and severe recurrent rhabdomyolysis due to TANGO2 mutations in a 3 year-old childRicci, F. / Scalco, R. / Mongini, T. / Ferrero, G. / Manole, A. / Bertini, E. / Desikan, M. / Moroni, I. / Di Rocco, M. / Jungbluth, H. et al. | 2017
-
Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse modelde Greef, J. / Krom, Y. / den Hamer, B. / Snider, L. / Hiramuki, Y. / van den Akker, R. / Salvatori, D. / Tawil, R. / Blewitt, M. / Tapscott, S. et al. | 2017
-
Ultrasonography evaluation of long-term taurine effects on cardiac and skeletal muscles of mdx miceMele, A. / Sanarica, F. / Rana, F. / Capogrosso, R. / Mantuano, P. / De Luca, A. et al. | 2017
-
A single neonatal injection of an AAV9.U7snRNA virus mediating skipping of dmd exon 2 allows dystrophin expression preventing apparition of pathologic features in the Dup2 mouse one year post injectionWein, N. / Simmons, T. / Gumienny, F. / Huang, N. / Heller, K. / Yurkoski, J. / Rodino-Klapac, L. / Muntoni, F. / Flanigan, K. et al. | 2017
-
Congenital myopathy with protein aggregates and nemaline bodies related to CFL2 mutationsFattori, F. / Fiorillo, C. / Rodolico, C. / Tasca, G. / Verardo, M. / Bellacchio, E. / Fagiolari, G. / Lupica, A. / Broda, P. / Moggio, M. et al. | 2017
-
Impact of idebenone on pulmonary morbidity, including bronchopulmonary adverse events, in Duchenne muscular dystrophy (DMD)Mayer, O. / Rummey, C. / Buyse, G. et al. | 2017
-
Riboflavin transporter deficiencySerdaroğlu, E. / Konuşkan, B. / Haliloğlu, G. / Alikaşifoğlu, M. / Topaloğlu, H. et al. | 2017
-
Longitudinal proteomic analysis of sera allows to non-invasively monitor disease progression in Duchenne muscular dystrophySpitali, P. / Tsonaka, R. / Hettne, K. / Koeks, Z. / Roos, A. / Straub, V. / Piscos Domingos, J. / Muntoni, F. / Al-Khalili-Szigyarto, C. / Lochmüller, H. et al. | 2017
-
Dilatative arterial malformations in patients with late onset Pompe disease (LOPD)Toscano, A. / Granata, F. / Rodolico, C. / Ciranni, A. / Arrigo, R. / Longo, M. / Musumeci, O. et al. | 2017
-
Trifunctional protein beta subunit (HADHB) mutations associated with periodic paralysis phenotypeRemiche, G. / Baudin, P. / Buon, C. / Praline, J. / Auré, K. / Abramowicz, M. / Sternberg, D. / Nicole, S. et al. | 2017
-
Parasitic myositis due to Toxocara spp. infectionEkmekci, O. / Kavasoglu, G. / Argin, M. / Babaoglu, A. / Karasoy, H. / Korkmaz, M. et al. | 2017
-
Adult onset distal myopathy secondary to nebulin gene mutationsJuntas Morales, R. / Lacourt, D. / Theze, C. / Pegeot, H. / Perrin, A. / Yauy, K. / Maues de Paula, A. / Figarella, D. / Leboucq, N. / Cossêe, M. et al. | 2017
-
The role of autophagy and protein homeostasis in immune-mediated necrotizing myopathyFischer, N. / Preuße, C. / Allenbach, Y. / Benveniste, O. / Goebel, H. / Stenzel, W. et al. | 2017
-
Preclinical studies for calpain 3 gene transfer: primate pilot study and dose effect evaluationLostal, W. / Roudaut, C. / Guilloux, V. / Moullec, S. / Larcher, T. / Deschamps, J. / Richard, I. et al. | 2017
-
Clinical-Molecular approach in autosomal recessive limb girdle muscular dystrophy in INR, MéxicoEscobar Cedillo, R. / Curiel Leal, M. / Miranda Duarte, A. / Sanchez Chapul, L. / Luna Angulo, A. / Cedeño, A. / Urtizberea, J. / Krahn, M. / Viéitez González, I. / Navarro Fernandez, C. et al. | 2017
-
A novel mutation in FHL1 gene causing hypertrophic cardiomyopathy associated with myopathyPetillo, R. / D'Ambrosio, P. / De Luca, C. / Papa, A. / Iascone, M. / Melloni, G. / Scutifero, M. / Palladino, A. / Politano, L. et al. | 2017
-
An overview of the Cure SMA membership database: highlights of key demographic and clinical characteristics of registrantsBelter, L. / Crawford, T. / Jarecki, J. / Jones, C. / Kissel, J. / Schroth, M. / Hobby, K. et al. | 2017
-
Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian muslims homozygous for the c.75G>A, p.Trp25* TCAP mutationChamova, T. / Bichev, S. / Gospodinova, M. / Zlatareva, D. / Taneva, A. / Kastreva, K. / Todorov, T. / Todorova, A. / Tournev, I. et al. | 2017
-
A novel mutation in HSPB8 causes dominant adult-onset axial and distal myopathyEchaniz-Laguna, A. / Lornage, X. / Lannes, B. / Schneider, R. / Bierry, G. / Dondaine, N. / Deleuze, J. / Böhm, J. / Thompson, J. / Laporte, J. et al. | 2017
-
Co-morbidities in a cohort of adult Duchenne muscular dystrophy patients attending a Neuromuscular Complex Care Centre - an observational studyDesikan, M. / Nastasi, L. / Price, S. / Scalco, R. / Pattni, J. / Hanna, M. / Quinlivan, R. et al. | 2017
-
The evaluation of new biomarkers in a case of MELASMatsui, M. / Yamadera, M. / Saito, T. / Matsumura, T. / Fujimura, H. et al. | 2017
-
Predominant posterior cerebral cortical atrophy in patients with DMD mutationsDomingues, J. / Tavares, P. / Souza, L. / Rezende, T. / Casseb, R. / Martinez, A. / Rittner, L. / Appenzeller, S. / Nucci, A. / França, M. et al. | 2017
-
Congenital muscular dystrophy with cataracts and mild cognitive impairment cause by mutations in INPP5K: Overlapping Marinesco-Sjögren syndrome and dystroglycanopathyNascimento, A. / Ortez, C. / Jou, C. / Alarcón, M. / Bates, A. / Topf, A. / Itzep, D. / Natera, D. / Frongia, A. / Codina, A. et al. | 2017
-
Jab1 in the pathogenesis of Merosin deficient congenital muscular dystrophy (MDC1A)Velardo, D. / Porrello, E. / Tonlorenzi, R. / Lorenzetti, I. / Pardi, R. / Goldhamer, D. / Previtali, S. et al. | 2017
-
Congenital muscular dystrophy ascending multiple dose cohort study analyzing pharmacokinetics at three dose levels in children and adolescents with assessment of safety and tolerability of omigapil (CALLISTO) trial updateLeach, M. / Foley, A. / Averion, G. / Hu, Y. / Yun, P. / DeCoster, J. / Arevalo, C. / Mendoza, C. / Mayer, O. / Hausmann, R. et al. | 2017
-
Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophySeferian, A. / Quicke, G. / Gargaun, E. / Moraux, A. / Gillabert, S. / Lilien, C. / Gasnier, E. / Che, V. / Gidaro, T. / Annoussamy, M. et al. | 2017
-
Movement disorders hidden in the neuromuscular clinicReimann, J. / Paus, S. et al. | 2017
-
Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.Garibaldi, M. / Rendu, J. / Lacene, E. / Brochier, G. / Beuvin, M. / Labasse, C. / Madelaine, A. / Borsato, F. Levy / Vassilopoulos, S. / Bevilacqua, J. et al. | 2017
-
Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insightsYiş, U. / Becker, K. / Kurul, S. / Uyanik, G. / Bayram, E. / Haliloglu, G. / Polat, I. / Ayanoglu, M. / Okur, D. / Tosun, A. et al. | 2017
-
Evaluation of skeletal muscle in patients with Fukuyama congenital muscular dystrophy (FCMD) using bioelectrical impedance analysisMurakami, T. / Ishigai, K. / Ishiguro, K. / Sato, T. / Shichiji, M. / Ikeda, M. / Nagata, S. / Uchida, T. / Kuru, S. / Nakayama, T. et al. | 2017
-
Computational alignment of duplex immunohistochemically-stained muscle sections in support of therapies for Duchenne muscular dystrophyCerkovnik, L. / Patterson-Kane, J. / Ryall, K. / Milici, A. / Tinsley, J. / Moore, S. / Faelan, C. et al. | 2017
-
A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndromeEstephan, E. / Silva, A. / Mendonça, R. / Caldas, V. / Zambon, A. / Marchiori, P. / Heise, C. / Reed, U. / Zanoteli, E. et al. | 2017
-
A novel mutation in AGRN gene causing congenital myasthenic syndrome with distal myopathyBamaga, A. / Al-Lozi, M. / Weihl, C. et al. | 2017
-
Daily versus weekend steroid use in DMD: age at loss of ambulation is equivalent in a retrospective patient cohortWaldrop, M. / Kaminoh, J. / Moore-Clingenpeel, M. / Flanigan, K. et al. | 2017
-
Osteopontin expression during chronic and acute muscle injuryTasaki, L. / Ishiba, R. / Ayub-Guerrieri, D. / Almeida, C. / Fernandes, S. / Ribeiro, A. / Galleni, L. / Souza, L. / Santos, A. / Vainzof, M. et al. | 2017
-
A novel drug screening approach to identify new drug candidates for the treatment of Duchenne muscular dystrophyHick, A. / Prokic, I. / Bousson, F. / Fugier, C. / Gobert, B. / Hestin, M. / Riguet, E. / Cherrier, T. / Chal, J. / Pourquie, O. et al. | 2017
-
A clinical update on the eNHANCE project: Eye tracking control for reaching and grasping in an adolescent Duchenne muscular dystrophy (DMD) populationPitchforth, J. / Iodice, M. / Main, M. / Dziemian, S. / Faisal, A. / Bergsma, A. / Muntoni, F. et al. | 2017
-
Tubular aggregate myopathy with dystrophic featuresLee, J. / Yoshimura, M. / Hirano, R. / Miyatake, S. / Koshimizu, E. / Matsumoto, N. / Mori, H. / Tachii, N. / Suzuki, M. / Ogata, K. et al. | 2017
-
A mouse model with compound heterozygous nebulin mutations recapitulates the typical form of nemaline myopathyLaitila, J. / McNamara, E. / Goullee, H. / Lawlor, M. / Ochala, J. / Griffiths, L. / Ravenscroft, G. / Sewry, C. / Laing, N. / Wallgren-Pettersson, C. et al. | 2017
-
KHLH40 mutations causing severe neonatal nemaline myopathyWillis, T. / Kulshrestha, R. / Sewry, C. et al. | 2017