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Neurology
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All Genetics

Citations 541-550 of 676 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
CMT with pyramidal features
S. Vucic, M. Kennerson, D. Zhu, E. Miedema, C. Kok, and G. A. Nicholson
Neurology 2003; 60: 696-699. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Juvenile-onset glycogen storage disease type II with novel mutations in acid {alpha}-glucosidase gene
C. W. Lam, Y. P. Yuen, K. Y. Chan, S. F. Tong, C. K. Lai, T. C. Chow, K. C. Lee, Y. W. Chan, and F. Martiniuk
Neurology 2003; 60: 715-717. [Abstract] [Full text] [PDF]  

ARTICLES
Hippocampal atrophy and T2-weighted signal changes in familial mesial temporal lobe epilepsy
E. Kobayashi, M.D. D’Agostino, I. Lopes-Cendes, S.F. Berkovic, M.L. Li, E. Andermann, F. Andermann, and F. Cendes
Neurology 2003; 60: 405-409. [Abstract] [Full text] [PDF]  

ARTICLES
Phenotypic features of familial febrile seizures: Case-control study
Deb K. Pal, Steven L. Kugler, David E. Mandelbaum, and Martina Durner
Neurology 2003; 60: 410-414. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
Nyamkhishig Sambuughin, Astrid de Bantel, Shona McWilliams, and Kumaraswamy Sivakumar
Neurology 2003; 60: 506-508. [Abstract] [Full text] [PDF]  

EDITORIALS
Another double trouble: Silent carriers of doublecortin mutations
Joseph G. Gleeson
Neurology 2003; 60: 164-165. [Full text] [PDF]  

ARTICLES
Early onset familial Alzheimer’s disease: Mutation frequency in 31 families
J.C. Janssen, J.A. Beck, T.A. Campbell, A. Dickinson, N.C. Fox, R.J. Harvey, H. Houlden, M.N. Rossor, and J. Collinge
Neurology 2003; 60: 235-239. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders
L. Aigner, G. Uyanik, S. Couillard-Despres, S. Ploetz, G. Wolff, D. Morris-Rosendahl, P. Martin, U. Eckel, S. Spranger, J. Otte, H. Woerle, H. Holthausen, N. Apheshiotis, D. Fluegel, and J. Winkler
Neurology 2003; 60: 329-332. [Abstract] [Full text] [PDF]  

EXPEDITED ARTICLES
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
V. A. Street, C. L. Bennett, J. D. Goldy, A. J. Shirk, K. A. Kleopa, B. L Tempel, H. P. Lipe, S. S. Scherer, T. D. Bird, and P. F. Chance
Neurology 2003; 60: 22-26. [Abstract] [Full text] [PDF]  

EDITORIALS
GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception "proves the rule"
Garth Nicholson and Robert Ouvrier
Neurology 2002; 59: 1835-1836. [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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