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Neurology
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All Genetics

Citations 161-170 of 676 total displayed.

Past content (since Jan 2001):

CLINICAL/SCIENTIFIC NOTES
CANADIAN RESTLESS LEGS SYNDROME TWIN STUDY
L. Xiong, K. Jang, J. Montplaisir, A. Levchenko, P. Thibodeau, C. Gaspar, G. Turecki, and G. A. Rouleau
Neurology 2007; 68: 1631-1633. [Full text] [PDF]  

ARTICLES
Symptomatic dysferlin gene mutation carriers: Characterization of two cases
I. Illa, N. De Luna, R. Domínguez-Perles, R. Rojas-García, C. Paradas, J. Palmer, C. Márquez, P. Gallano, and E. Gallardo
Neurology 2007; 68: 1284-1289. [Abstract] [Full text] [PDF]  

ARTICLES
Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation
M. P. Gorman, M. R. Golomb, L. E. Walsh, G. M. Hobson, J. Y. Garbern, R. P. Kinkel, B. T. Darras, D. K. Urion, and Y. Z. Eksioglu
Neurology 2007; 68: 1305-1307. [Abstract] [Full text] [PDF]  

VIEWS & REVIEWS
Stereotypies in Rett syndrome: Analysis of 83 patients with and without detected MECP2 mutations
T. Temudo, P. Oliveira, M. Santos, K. Dias, J. Vieira, A. Moreira, E. Calado, I. Carrilho, G. Oliveira, A. Levy, C. Barbot, M. Fonseca, A. Cabral, A. Dias, P. Cabral, J. Monteiro, L. Borges, R. Gomes, C. Barbosa, G. Mira, F. Eusébio, M. Santos, J. Sequeiros, and P. Maciel
Neurology 2007; 68: 1183-1187. [Abstract] [Full text] [PDF]  

ARTICLES
Evaluation of LRRK2 G2019S penetrance: Relevance for genetic counseling in Parkinson disease
S. Goldwurm, M. Zini, L. Mariani, S. Tesei, R. Miceli, F. Sironi, M. Clementi, V. Bonifati, and G. Pezzoli
Neurology 2007; 68: 1141-1143. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Autosomal dominant primary lateral sclerosis
Nicolas Dupré, Paul N. Valdmanis, Jean-Pierre Bouchard, and Guy A. Rouleau
Neurology 2007; 68: 1156-1157. [Full text] [PDF]  

ARTICLES
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
J. Fuchs, C. Nilsson, J. Kachergus, M. Munz, E.-M Larsson, B. Schüle, J. W. Langston, F. A. Middleton, O. A. Ross, M. Hulihan, T. Gasser, and M. J. Farrer
Neurology 2007; 68: 916-922. [Abstract] [Full text] [PDF]  

ARTICLE
CMT1X phenotypes represent loss of GJB1 gene function
M. E. Shy, C. Siskind, E. R. Swan, K. M. Krajewski, T. Doherty, D. R. Fuerst, P. J. Ainsworth, R. A. Lewis, S. S. Scherer, and A. F. Hahn
Neurology 2007; 68: 849-855. [Abstract] [Full text] [PDF]  

ARTICLES
DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation
H. Engels, A. Brockschmidt, A. Hoischen, C. Landwehr, K. Bosse, C. Walldorf, G. Toedt, B. Radlwimmer, P. Propping, P. Lichter, and R. G. Weber
Neurology 2007; 68: 743-750. [Abstract] [Full text] [PDF]  

ARTICLES
Distal arthrogryposis and muscle weakness associated with a ß-tropomyosin mutation
H. Tajsharghi, E. Kimber, D. Holmgren, M. Tulinius, and A. Oldfors
Neurology 2007; 68: 772-775. [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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