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Neurology
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All Genetics

Citations 471-480 of 679 total displayed.

Past content (since Jan 2001):

ARTICLES
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
B. P.C. van de Warrenburg, D. S. Verbeek, S. J. Piersma, F. A.M. Hennekam, P. L. Pearson, N. V.A.M. Knoers, H. P.H. Kremer, and R. J. Sinke
Neurology 2003; 61: 1760-1765. [Abstract] [Full text] [PDF]  

VIEWS & REVIEWS
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: More than a peripheral problem
Robert A. Taylor, Erin M. Simon, Harold G. Marks, and Steven S. Scherer
Neurology 2003; 61: 1475-1478. [Full text] [PDF]  

ARTICLES
A CAV3 microdeletion differentially affects skeletal muscle and myocardium
R. Cagliani, N. Bresolin, A. Prelle, A. Gallanti, F. Fortunato, M. Sironi, P. Ciscato, G. Fagiolari, S. Bonato, S. Galbiati, S. Corti, C. Lamperti, M. Moggio, and G. P. Comi
Neurology 2003; 61: 1513-1519. [Abstract] [Full text] [PDF]  

ARTICLES
A haplotype at the PARK3 locus influences onset age for Parkinson’s disease: The GenePD study
S. Karamohamed, A. L. DeStefano, J. B. Wilk, C. M. Shoemaker, L. I. Golbe, M. H. Mark, A. M. Lazzarini, O. Suchowersky, N. Labelle, M. Guttman, L. J. Currie, G. F. Wooten, M. Stacy, M. Saint-Hilaire, R. G. Feldman, K. M. Sullivan, G. Xu, R. Watts, J. Growdon, M. Lew, C. Waters, P. Vieregge, P. P. Pramstaller, C. Klein, B. A. Racette, J. S. Perlmutter, A. Parsian, C. Singer, E. Montgomery, K. Baker, J. F. Gusella, S. J. Fink, R. H. Myers, and A. Herbert
Neurology 2003; 61: 1557-1561. [Abstract] [Full text] [PDF]  

ARTICLES
Genetic influences on myoclonic and absence seizures
M. R. Winawer, D. Rabinowitz, T. A. Pedley, W. A. Hauser, and R. Ottman
Neurology 2003; 61: 1576-1581. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Mutation in the CHAC gene in a family of autosomal dominant chorea–acanthocytosis
S. Saiki, K. Sakai, Y. Kitagawa, M. Saiki, S. Kataoka, and G. Hirose
Neurology 2003; 61: 1614-1616. [Abstract] [Full text] [PDF]  

EDITORIALS
Echo of silence: Silent mutations, RNA splicing, and neuromuscular diseases
Ami Mankodi and Tetsuo Ashizawa
Neurology 2003; 61: 1330-1331. [Full text] [PDF]  

BRIEF COMMUNICATIONS
Compound heterozygous PANK2 mutations confirm HARP and Hallervorden-Spatz syndromes are allelic
H. Houlden, S. Lincoln, M. Farrer, P.G. Cleland, J. Hardy, and R.W. Orrell
Neurology 2003; 61: 1423-1426. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism
P. Ibáñez, G. De Michele, V. Bonifati, E. Lohmann, S. Thobois, P. Pollak, Y. Agid, P. Heutink, A. Dürr, and A. Brice
Neurology 2003; 61: 1429-1431. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease
I. Fernandez-Cadenas, A.L. Andreu, J. Gamez, R. Gonzalo, M.A. Martín, J.C. Rubio, and J. Arenas
Neurology 2003; 61: 1432-1434. [Abstract] [Full text] [PDF]  

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* Related collections:
 Genetics
 All Genetics
 Neurofibromatosis
 Other neurocutaneous disorders
 Genetic linkage
 Association studies in genetics
 Gene expression studies
 Gene therapy
 Mitochondrial disorders
 Ion channel gene defects
 Spinocerebellar ataxia
 Trinucleotide repeat diseases
 Chromosomes


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