Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P (English)
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- New search for: Reilich, P.
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- New search for: Fischer, D.
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- New search for: Born, C.
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In:
Brain
;
130
, 6
;
1485-
;
2007
- Article (Journal) / Electronic Resource
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Title:Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P
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Contributors:Walter, M. C. ( author ) / Reilich, P. ( author ) / Huebner, A. ( author ) / Fischer, D. ( author ) / Schröder, R. ( author ) / Vorgerd, M. ( author ) / Kress, W. ( author ) / Born, C. ( author ) / Schoser, B. G. ( author ) / Krause, K. H. ( author )
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Published in:Brain ; 130, 6 ; 1485-
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Publisher:
- New search for: Oxford University Press
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Publication date:2007-06-01
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 130, Issue 6
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.
- 1447
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EditorialCompston, Alastair et al. | 2007
- 1449
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The structure and functions of the cerebellum examined by a new method. By Sir Victor Horsley, FRS, FRCS and R.H. Clarke, MA, MB. Brain 1908: 31; 45-124.Compston, Alastair et al. | 2007
- 1453
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More surprises in sarcomeric protein diseasesLaing, Nigel G. et al. | 2007
- 1456
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Genetics of essential tremorDeng, Hao / Le, Weidong / Jankovic, Joseph et al. | 2007
- 1465
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Distal myopathy caused by homozygous missense mutations in the nebulin geneWallgren-Pettersson, Carina / Lehtokari, Vilma-Lotta / Kalimo, Hannu / Paetau, Anders / Nuutinen, Elina / Hackman, Peter / Sewry, Caroline / Pelin, Katarina / Udd, Bjarne et al. | 2007
- 1477
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Zaspopathy in a large classic late-onset distal myopathy familyGriggs, R. / Vihola, A. / Hackman, P. / Talvinen, K. / Haravuori, H. / Faulkner, G. / Eymard, B. / Richard, I. / Selcen, D. / Engel, A. et al. | 2007
- 1485
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Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350PWalter, M. C. / Reilich, P. / Huebner, A. / Fischer, D. / Schröder, R. / Vorgerd, M. / Kress, W. / Born, C. / Schoser, B. G. / Krause, K. H. et al. | 2007
- 1497
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Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromesMüller, Juliane S. / Herczegfalvi, Agnes / Vilchez, Juan J. / Colomer, Jaume / Bachinski, Linda L. / Mihaylova, Violeta / Santos, Manuela / Schara, Ulrike / Deschauer, Marcus / Shevell, Michael et al. | 2007
- 1507
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Clinical features of the DOK7 neuromuscular junction synaptopathyPalace, Jacqueline / Lashley, Daniel / Newsom-Davis, John / Cossins, Judy / Maxwell, Susan / Kennett, Robin / Jayawant, Sandeep / Yamanashi, Yuji / Beeson, David et al. | 2007
- 1516
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Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?Auré, Karine / Ogier de Baulny, Hélène / Laforêt, Pascal / Jardel, Claude / Eymard, Bruno / Lombès, Anne et al. | 2007
- 1525
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The role of the ventrolateral frontal cortex in inhibitory oculomotor controlHodgson, Tim / Chamberlain, Marcia / Parris, Benjamin / James, Martin / Gutowski, Nicholas / Husain, Masud / Kennard, Christopher et al. | 2007
- 1538
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Eyeblink conditioning is impaired in subjects with essential tremorKronenbuerger, Martin / Gerwig, Marcus / Brol, Beate / Block, Frank / Timmann, Dagmar et al. | 2007
- 1552
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A clinical rating scale for progressive supranuclear palsyGolbe, Lawrence I. / Ohman-Strickland, Pamela A. et al. | 2007
- 1566
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Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndromeWilliams, David R. / Holton, Janice L. / Strand, Catherine / Pittman, Alan / de Silva, Rohan / Lees, Andrew J. / Revesz, Tamas et al. | 2007
- 1577
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Hypocretin (orexin) loss in Parkinson's diseaseFronczek, Rolf / Overeem, Sebastiaan / Lee, Sandy Y. Y. / Hegeman, Ingrid. M. / van Pelt, Johannes / van Duinen, Sjoerd. G. / Lammers, Gert Jan / Swaab, Dick F. et al. | 2007
- 1586
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Hypocretin (orexin) cell loss in Parkinson's diseaseThannickal, Thomas C. / Lai, Yuan-Yang / Siegel, Jerome M. et al. | 2007
- 1596
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Bilateral deep brain stimulation of the pedunculopontine and subthalamic nuclei in severe Parkinson's diseaseStefani, Alessandro / Lozano, Andres M. / Peppe, Antonella / Stanzione, Paolo / Galati, Salvatore / Tropepi, Domenicantonio / Pierantozzi, Mariangela / Brusa, Livia / Scarnati, Eugenio / Mazzone, Paolo et al. | 2007
- 1608
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Kinematic analysis of thalamic versus subthalamic neurostimulation in postural and intention tremorHerzog, Jan / Hamel, Wolfgang / Wenzelburger, Roland / Pötter, Monika / Pinsker, Marcus O. / Bartussek, Jan / Morsnowski, Andre / Steigerwald, Frank / Deuschl, Günther / Volkmann, Jens et al. | 2007
- 1626
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Moderate hyperglycaemia is associated with favourable outcome in acute lacunar strokeUyttenboogaart, Maarten / Koch, Marcus W. / Stewart, Roy E. / Vroomen, Patrick C. / Luijckx, Gert-Jan / De Keyser, Jacques et al. | 2007
- 1631
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Normobaric hyperoxia improves cerebral blood flow and oxygenation, and inhibits peri-infarct depolarizations in experimental focal ischaemiaShin, Hwa Kyoung / Dunn, Andrew K. / Jones, Phillip B. / Boas, David A. / Lo, Eng H. / Moskowitz, Michael A. / Ayata, Cenk et al. | 2007
- 1643
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Heme oxygenase-1 exacerbates early brain injury after intracerebral haemorrhageWang, Jian / Doré, Sylvain et al. | 2007
- 1653
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Arousal elicits exaggerated inhibition of sympathetic nerve activity in phobic syncope patientsDonadio, Vincenzo / Liguori, Rocco / Elam, Mikael / Karlsson, Tomas / Montagna, Pasquale / Cortelli, Pietro / Baruzzi, Agostino / Wallin, B. Gunnar et al. | 2007
- 1663
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The green-eyed monster and malicious joy: the neuroanatomical bases of envy and gloating (schadenfreude)Shamay-Tsoory, Simone G. / Tibi-Elhanany, Yasmin / Aharon-Peretz, Judith et al. | 2007
- 1679
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Is colour modulation an independent factor in human visual photosensitivity?Parra, Jaime / Lopes da Silva, Fernando H. / Stroink, Hans / Kalitzin, Stiliyan et al. | 2007
- 1690
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Exploring the visual hallucinations of migraine aura: the tacit contribution of illustrationSchott, G. D. et al. | 2007
- 1704
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Pain past, present and future: the unhappy paradox of scientific advances and therapeutic standstillSchott, G. D. et al. | 2007
- e73
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The pedunculopontine and peripeduncular nuclei: a tale of two structuresZrinzo, Ludvic / Zrinzo, Laurence V. / Hariz, Marwan et al. | 2007
- e74
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Reply: The peripeduncular and pedunculopontine nuclei: a putative dispute not discouraging the effort to define a clinically relevant targetMazzone, Paolo / Stanzione, Paolo / Lozano, Andres / Scarnati, Eugenio / Peppe, Antonella / Galati, Salvatore / Stefani, Alessandro et al. | 2007