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Neurology
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All Genetics

Citations 561-570 of 676 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
Late infantile Hirschsprung disease–mental retardation syndrome with a 3-bp deletion in ZFHX1B
M. Yoneda, T. Fujita, Y. Yamada, K. Yamada, A. Fujii, T. Inagaki, H. Nakagawa, A. Shimada, M. Kishikawa, M. Nagaya, T. Azuma, M. Kuriyama, and N. Wakamatsu
Neurology 2002; 59: 1637-1640. [Abstract] [Full text] [PDF]  

ARTICLES
Presymptomatic testing in Huntington’s disease and autosomal dominant cerebellar ataxias
C. Goizet, G. Lesca, and A. Dürr
Neurology 2002; 59: 1330-1336. [Abstract] [Full text] [PDF]  

ARTICLES
Clinical and genetic study of a large Italian family linked to SPG12 locus
A. Orlacchio, T. Kawarai, E. Rogaeva, Y.Q. Song, A.D. Paterson, G. Bernardi, and P.H. St. George-Hyslop
Neurology 2002; 59: 1395-1401. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist
P. Corcia, J. Khoris, P. Couratier, V. Mayeux-Portas, E. Bieth, B. de Toffol, A. Autret, J.P. Müh, C. Andres, and W. Camu
Neurology 2002; 59: 1464-1466. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment
N. Kalfakis, M. Panas, G. Karadima, P. Floroskufi, N. Kokolakis, and D. Vassilopoulos
Neurology 2002; 59: 1470-1471. [Full text] [PDF]  

ARTICLES
Molecular profiles of inflammatory myopathies
S. A. Greenberg, D. Sanoudou, J. N. Haslett, I. S. Kohane, L. M. Kunkel, A. H. Beggs, and A. A. Amato
Neurology 2002; 59: 1170-1182. [Abstract] [Full text] [PDF]  

ARTICLES
A novel locus for inherited myoclonus-dystonia on 18p11
D. A. Grimes, F. Han, A. E. Lang, P. St. George-Hyssop, L. Racacho, and D. E. Bulman
Neurology 2002; 59: 1183-1186. [Abstract] [Full text] [PDF]  

ARTICLES
Phenotypic features of myoclonus-dystonia in three kindreds
D. O. Doheny, M. F. Brin, C. E. Morrison, C. J. Smith, R. H. Walker, S. Abbasi, B. Müller, J. Garrels, L. Liu, P. de Carvalho Aguiar, K. Schilling, P. Kramer, D. de Leon, D. Raymond, R. Saunders-Pullman, C. Klein, S. B. Bressman, B. Schmand, M. A.J. Tijssen, L. J. Ozelius, and J. M. Silverman
Neurology 2002; 59: 1187-1196. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome
V. Leuzzi, Ca. Carducci, Cl. Carducci, F. Cardona, C. Artiola, and I. Antonozzi
Neurology 2002; 59: 1241-1243. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Clinical findings of a myoclonus-dystonia family with two distinct mutations
D. Doheny, F. Danisi, C. Smith, C. Morrison, M. Velickovic, D. de Leon, S. B. Bressman, J. Leung, L. Ozelius, C. Klein, X. O. Breakefield, M. F. Brin, and J. M. Silverman
Neurology 2002; 59: 1244-1246. [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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