All Genetics

Citations 321-330 of 676 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci

A. Kochanski, M. Kennerson, M. Kawulak, B. Ryniewicz, K. Rowinska-Marcinska, G. Walizada, A. Nowakowski, I. Hausmanowa-Petrusewicz, and G. A. Nicholson
Neurology 2005; 64: 533-535. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation

K. Asanuma, Y. Ma, J. Okulski, V. Dhawan, T. Chaly, M. Carbon, S. B. Bressman, and D. Eidelberg
Neurology 2005; 64: 347-349. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
The HLA locus and multiple sclerosis in Sicily

D. Brassat, G. Salemi, L. F. Barcellos, G. McNeill, P. Proia, S. L. Hauser, J. R. Oksenberg, and G. Savettieri
Neurology 2005; 64: 361-363. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

G. Hudson, M. Deschauer, K. Busse, S. Zierz, and P. F. Chinnery
Neurology 2005; 64: 371-373. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

B. G.M. van Engelen, A. Muchir, C. J. Hutchison, A. J. van der Kooi, G. Bonne, and M. Lammens
Neurology 2005; 64: 374-376. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
An African American family with early-onset Alzheimer disease and an APP (T714I) mutation

T. Edwards-Lee, J. M. Ringman, J. Chung, J. Werner, A. Morgan, P. St. George Hyslop, P. Thompson, R. Dutton, A. Mlikotic, E. Rogaeva, and J. Hardy
Neurology 2005; 64: 377-379. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale

S. L. Venance, W. J. Koopman, B. A. Miskie, R. A. Hegele, and A. F. Hahn
Neurology 2005; 64: 395-396. [Full text] [PDF]  

BRIEF COMMUNICATIONS
An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures

R. Straussberg, L. Basel-Vanagaite, S. Kivity, R. Dabby, S. Cirak, P. Nurnberg, T. Voit, M. Mahajnah, D. Inbar, G. M. Saifi, J. R. Lupski, V. Delague, A. Megarbane, A. Richter, E. Leshinsky, and S. F. Berkovic
Neurology 2005; 64: 142-144. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia

A. Brussino, C. Gellera, A. Saluto, C. Mariotti, C. Arduino, B. Castellotti, M. Camerlingo, V. de Angelis, L. Orsi, P. Tosca, N. Migone, F. Taroni, and A. Brusco
Neurology 2005; 64: 145-147. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
[¹²³I]FP-CIT SPECT findings in two patients with Hallervorden–Spatz disease with homozygous mutation in PANK2 gene

G. Cossu, C. Cella, M. Melis, A. Antonini, G. L. Floris, L. Ruffini, and A. Spissu
Neurology 2005; 64: 167-168. [Full text] [PDF]  

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