Muscle disease

Citations 1-10 of 281 total displayed.

Most recent content (10 Nov 2009):

CLINICAL/SCIENTIFIC NOTES
CONGENITAL MUSCULAR DYSTROPHY WITH DEFECTIVE ${alpha}$ -DYSTROGLYCAN, CEREBELLAR HYPOPLASIA, AND EPILEPSY: S. Messina, G. Tortorella, D. Concolino, M. Spanò, A. D’Amico, C. Bruno, F. M. Santorelli, E. Mercuri, and E. Bertini
Neurology 2009; 73: 1599-1601. [Full text] [PDF]

Past content (since Jan 2001):

CLINICAL/SCIENTIFIC NOTES
CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE: N. B. Romero, V. -L. Lehtokari, S. Quijano-Roy, N. Monnier, K. G. Claeys, R. Y. Carlier, N. Pellegrini, D. Orlikowski, A. Barois, N. G. Laing, J. Lunardi, M. Fardeau, K. Pelin, and C. Wallgren-Pettersson
Neurology 2009; 73: 1159-1161. [Full text] [PDF]

ARTICLES
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes: S. C. Blumen, J. -P. Bouchard, B. Brais, R. L. Carasso, D. Paleacu, V. E. Drory, S. Chantal, N. Blumen, and I. Braverman
Neurology 2009; 73: 596-601. [Abstract] [Full text] [PDF]

CLINICAL/SCIENTIFIC NOTES
RESTLESS LEGS SYNDROME WITH PERIODIC LIMB MOVEMENTS: A POSSIBLE CAUSE OF IDIOPATHIC HYPERCKEMIA: G. Della Marca, S. Dittoni, M. Catteruccia, R. Frusciante, F. Madia, A. Losurdo, E. Testani, C. Vollono, and S. Servidei
Neurology 2009; 73: 643-645. [Full text] [PDF]

ARTICLES
Consequences of mutations within the C terminus of the FHL1 gene: B. Schoser, H. H. Goebel, I. Janisch, S. Quasthoff, J. Rother, M. Bergmann, W. Müller-Felber, and C. Windpassinger
Neurology 2009; 73: 543-551. [Abstract] [Full text] [PDF]

EDITORIALS
Abnormal glycosylation of the ${alpha}$ -dystroglycan: Deficient sugars are no good: Haluk Topaloglu
Neurology 2009; 72: 1798-1799. [Full text] [PDF]

ARTICLES
Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study: E. Mercuri, S. Messina, C. Bruno, M. Mora, E. Pegoraro, G. P. Comi, A. D'Amico, C. Aiello, R. Biancheri, A. Berardinelli, P. Boffi, D. Cassandrini, A. Laverda, M. Moggio, L. Morandi, I. Moroni, M. Pane, R. Pezzani, A. Pichiecchio, A. Pini, C. Minetti, T. Mongini, E. Mottarelli, E. Ricci, A. Ruggieri, S. Saredi, C. Scuderi, A. Tessa, A. Toscano, G. Tortorella, C. P. Trevisan, C. Uggetti, G. Vasco, F. M. Santorelli, and E. Bertini
Neurology 2009; 72: 1802-1809. [Abstract] [Full text] [PDF]

EDITORIALS
Getting a charge out of periodic paralysis?: Stephen C. Cannon
Neurology 2009; 72: 1540-1541. [Full text] [PDF]

ARTICLES
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis: E. Matthews, R. Labrum, M. G. Sweeney, R. Sud, A. Haworth, P. F. Chinnery, G. Meola, S. Schorge, D. M. Kullmann, M. B. Davis, and M. G. Hanna
Neurology 2009; 72: 1544-1547. [Abstract] [Full text] [PDF]

ARTICLES
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes: M. Fanin, A. C. Nascimbeni, S. Aurino, E. Tasca, E. Pegoraro, V. Nigro, and C. Angelini
Neurology 2009; 72: 1432-1435. [Abstract] [Full text] [PDF]

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