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Neurology
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All Genetics

Citations 521-530 of 676 total displayed.

Past content (since Jan 2001):

CLINICAL/SCIENTIFIC NOTES
Does CMT1A homozygosity cause more severe disease with root hypertrophy and higher CSF proteins?
D. Pareyson, D. Testa, M. Morbin, A. Erbetta, C. Ciano, G. Lauria, M. Milani, and F. Taroni
Neurology 2003; 60: 1721-1722. [Full text] [PDF]  

ARTICLES
Hereditary inclusion body myopathy: The Middle Eastern genetic cluster
Z. Argov, I. Eisenberg, G. Grabov–Nardini, M. Sadeh, I. Wirguin, D. Soffer, and S. Mitrani–Rosenbaum
Neurology 2003; 60: 1519-1523. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Neurophysiological findings in SPG4 patients differ from other types of spastic paraplegia
T. Schulte, B. Miterski, C. Börnke, H. Przuntek, J. T. Epplen, and L. Schöls
Neurology 2003; 60: 1529-1532. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel mutation in the {epsilon}-sarcoglycan gene causing myoclonus–dystonia syndrome
L. E. Hjermind, L. M. Werdelin, H. Eiberg, B. Krag–Olsen, E. Dupont, and S. A. Sørensen
Neurology 2003; 60: 1536-1539. [Abstract] [Full text] [PDF]  

EDITORIALS
The limb-girdle muscular dystrophies: Genetic and phenotypic definition of a disputed entity
Matthew P. Wicklund and David Hilton-Jones
Neurology 2003; 60: 1230-1231. [Full text] [PDF]  

ARTICLES
The phenotype of limb-girdle muscular dystrophy type 2I
M. Poppe, L. Cree, J. Bourke, M. Eagle, L.V.B. Anderson, D. Birchall, M. Brockington, M. Buddles, M. Busby, F. Muntoni, A. Wills, and K. Bushby
Neurology 2003; 60: 1246-1251. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I
A. Driss, S. Noguchi, R. Amouri, M. Kefi, T. Sasaki, K. Sugie, S. Souilem, Y.K. Hayashi, N. Shimizu, S. Minoshima, J. Kudoh, F. Hentati, and I. Nishino
Neurology 2003; 60: 1341-1344. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
High rate of constitutional chromosomal rearrangements in apparently sporadic ALS
T. Meyer, B. Alber, K. Roemer, T. Martin, V.M. Kalscheuer, E. Göttert, K.D. Zang, A.C. Ludolph, H.-H. Ropers, and J. Prudlo
Neurology 2003; 60: 1348-1350. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
Ulrike Schara, Wolfram Kress, Jens Tücke, and Wilhelm Mortier
Neurology 2003; 60: 1363-1365. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism
N. Rawal, M. Periquet, E. Lohmann, C.B. Lücking, H.A. Teive, G. Ambrosio, S. Raskin, S. Lincoln, N. Hattori, J. Guimaraes, M.W.I.M. Horstink, W. Dos Santos Bele, E. Brousolle, A. Destée, Y. Mizuno, M. Farrer, J.-F. Deleuze, G. De Michele, Y. Agid, A. Dürr, and A. Brice
Neurology 2003; 60: 1378-1381. [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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