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Neurology
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Muscle disease

Citations 241-250 of 281 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
Ullrich disease: Collagen VI deficiency: EM suggests a new basis for muscular weakness
H. Ishikawa, K. Sugie, K. Murayama, M. Ito, N. Minami, I. Nishino, and I. Nonaka
Neurology 2002; 59: 920-923. [Abstract] [Full text] [PDF]  

ARTICLES
Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy
B. A. Minassian, R. Aiyar, S. Alic, B. Banwell, M. Villanova, M. Fardeau, J. W. Mandell, V. C. Juel, M. Rafii, M. Auranen, and H. Kalimo
Neurology 2002; 59: 596-601. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Mutations of the slow muscle {alpha}-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy
D. Wattanasirichaigoon, K. J. Swoboda, F. Takada, H.-Q. Tong, V. Lip, S. T. Iannaccone, C. Wallgren-Pettersson, N. G. Laing, and A. H. Beggs
Neurology 2002; 59: 613-617. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Asymptomatic cores and paracrystalline mitochondrial inclusions in CADASIL
A. Malandrini, F. Albani, S. Palmeri, F. Fattapposta, S. Gambelli, G. Berti, A. Bracco, A. Tammaro, S. Calzavara, M. Villanova, M. Ferrari, A. Rossi, and P. Carrera
Neurology 2002; 59: 617-620. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
A. J. van der Kooi, G. Bonne, B. Eymard, D. Duboc, B. Talim, M. Van der Valk, P. Reiss, P. Richard, L. Demay, L. Merlini, K. Schwartz, H. F.M. Busch, and M. de Visser
Neurology 2002; 59: 620-623. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene
H. Tomimitsu, K. Ishikawa, J. Shimizu, N. Ohkoshi, I. Kanazawa, and H. Mizusawa
Neurology 2002; 59: 451-454. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Phenotypic variability in a Spanish family with MNGIE
J. Gamez, C. Ferreiro, M. L. Accarino, L. Guarner, S. Tadesse, R. A. Martí, A. L. Andreu, N. Raguer, C. Cervera, and M. Hirano
Neurology 2002; 59: 455-457. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Amiodarone and acetazolamide for the treatment of genetically confirmed severe Andersen syndrome
J. Junker, W. Haverkamp, E. Schulze-Bahr, L. Eckardt, W. Paulus, and R. Kiefer
Neurology 2002; 59: 466. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores
H. Jungbluth, C. R. Müller, B. Halliger–Keller, M. Brockington, S. C. Brown, L. Feng, A. Chattopadhyay, E. Mercuri, A. Y. Manzur, A. Ferreiro, N. G. Laing, M. R. Davis, H. P. Roper, V. Dubowitz, G. Bydder, C. A. Sewry, and F. Muntoni
Neurology 2002; 59: 284-287. [Abstract] [Full text] [PDF]  

ARTICLES
Clinicopathological features of genetically confirmed Danon disease
K. Sugie, A. Yamamoto, K. Murayama, S. J. Oh, M. Takahashi, M. Mora, J. E. Riggs, J. Colomer, C. Iturriaga, A. Meloni, C. Lamperti, S. Saitoh, E. Byrne, S. DiMauro, I. Nonaka, M. Hirano, and I. Nishino
Neurology 2002; 58: 1773-1778. [Abstract] [Full text] [PDF]  

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* Related collections:
 Neuromuscular disease
 All Neuromuscular Disease
 Anterior nerve cell disease
 Amyotrophic lateral sclerosis
 Myasthenia
 Lambert-Eaton syndrome
 Peripheral neuropathy
 Carpal tunnel syndrome
 Cranial neuropathy
 Guillain-Barre syndrome
 Chronic inflammatory demyelinating polyneuropathy
 Transverse myelitis
 Muscle disease


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