Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report (Unknown)
- New search for: Moro, Francesca
- New search for: Rubegni, Anna
- New search for: Pochiero, Francesca
- New search for: Mero, Serena
- New search for: Procopio, Elena
- New search for: Baldacci, Jacopo
- New search for: Donati, Maria A.
- New search for: Santorelli, Filippo M.
- New search for: Moro, Francesca
- New search for: Rubegni, Anna
- New search for: Pochiero, Francesca
- New search for: Mero, Serena
- New search for: Procopio, Elena
- New search for: Baldacci, Jacopo
- New search for: Donati, Maria A.
- New search for: Santorelli, Filippo M.
In:
NEUROMUSCULAR DISORDERS
;
29
, 1
;
67-69
;
2019
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ISSN:
- Article (Journal) / Print
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Title:Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report
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Contributors:Moro, Francesca ( author ) / Rubegni, Anna ( author ) / Pochiero, Francesca ( author ) / Mero, Serena ( author ) / Procopio, Elena ( author ) / Baldacci, Jacopo ( author ) / Donati, Maria A. ( author ) / Santorelli, Filippo M. ( author )
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Published in:NEUROMUSCULAR DISORDERS ; 29, 1 ; 67-69
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Publisher:
- New search for: Elsevier Science B.V., Amsterdam.
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Publication date:2019-01-01
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Size:3 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:Unknown
- New search for: 616.83
- Further information on Dewey Decimal Classification
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Classification:
DDC: 616.83 -
Source:
© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 29, Issue 1
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.
- 1
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Commentary from the EditorDubowitz, Victor et al. | 2019
- 5
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Idiopathic inflammatory myopathies with anti-mitochondrial antibodies: Clinical features and treatment outcomes in a Chinese cohortHou, Ying / Liu, Meirong / Luo, Yue-Bei / Sun, Yuan / Shao, Kai / Dai, Tingjun / Li, Wei / Zhao, Yuying / Yan, Chuanzhu et al. | 2019
- 14
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Electromyography and muscle biopsy in paediatric neuromuscular disorders – Evaluation of current practice and literature reviewHafner, Patricia / Phadke, Rahul / Manzur, Adnan / Smith, Ralph / Jaiser, Stephan / Schutz, Peter / Sewry, Caroline / Muntoni, Francesco / Pitt, Matthew et al. | 2019
- 21
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The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophyKletzl, Heidemarie / Marquet, Anne / Günther, Andreas / Tang, Wakana / Heuberger, Jules / Groeneveld, Geert Jan / Birkhoff, Willem / Mercuri, Eugenio / Lochmüller, Hanns / Wood, Claire et al. | 2019
- 30
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Functional impairments, fatigue and quality of life in RYR1-related myopathies: A questionnaire studyvan Ruitenbeek, E. / Custers, J.A.E. / Verhaak, C. / Snoeck, M. / Erasmus, C.E. / Kamsteeg, E.J. / Schouten, M.I. / Coleman, C. / Treves, S. / Van Engelen, B.G. et al. | 2019
- 39
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Myopathies featuring non-caseating granulomas: Sarcoidosis, inclusion body myositis and an unfolding overlapAlhammad, Reem M. / Liewluck, Teerin et al. | 2019
- 48
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Mental wellbeing in non-ambulant youth with neuromuscular disorders: What makes the difference?Travlos, Vivienne / Downs, Jenny / Wilson, Andrew / Hince, Dana / Patman, Shane et al. | 2019
- 59
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Fractures and bone health monitoring in boys with Duchenne muscular dystrophy managed within the Scottish Muscle NetworkJoseph, Shuko / Wang, Cunyi / Di Marco, Marina / Horrocks, Iain / Abu-Arafeh, Ishaq / Baxter, Alex / Cordeiro, Nuno / McLellan, Linda / McWilliam, Kenneth / Naismith, Karen et al. | 2019
- 67
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Autophagic vacuolar myopathy caused by a CLN3 mutation. A case reportMoro, Francesca / Rubegni, Anna / Pochiero, Francesca / Mero, Serena / Procopio, Elena / Baldacci, Jacopo / Donati, Maria A. / Santorelli, Filippo M. et al. | 2019
- 70
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Immunoglobulin (Ig)G-4 related myositis – A new entity?Casteleyn, Vincent / Radbruch, Helena / Diekhoff, Torsten / Rose, Thomas / Spengler, Lydia / Schneider, Udo / Stenzel, Werner et al. | 2019
- 75
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A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defectMasingue, Marion / Fauré, Julien / Solé, Guilhem / Stojkovic, Tanya / Léonard-Louis, Sarah et al. | 2019
- 80
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Late onset distal myopathy: A new telethoninopathyBlanco-Palmero, Víctor Antonio / Hernández-Laín, Aurelio / Uriarte-Pérez de Urabayen, David / Cantero-Montenegro, Diana / Olivé, Montse / Domínguez-González, Cristina et al. | 2019
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Editorial Board| 2019