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All Genetics
Citations 251-260 of 679 total displayed.
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Past content
(since Jan 2001):
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- BRIEF COMMUNICATIONS
Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing
- Kentaro Shirakawa, Yoshitomo Takahashi, and Hiroaki Miyajima
Neurology 2006; 66: 925-927.
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Electrophysiologic characterization in spinocerebellar ataxia 17
- F. Manganelli, A. Perretti, M. Nolano, B. Lanzillo, A. C. Bruni, G. De Michele, A. Filla, and L. Santoro
Neurology 2006; 66: 932-934.
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Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia
- N. Elleuch, C. Depienne, A. Benomar, A. M. Ouvrard Hernandez, X. Ferrer, B. Fontaine, D. Grid, C.M.E. Tallaksen, R. Zemmouri, G. Stevanin, A. Durr, and A. Brice
Neurology 2006; 66: 654-659.
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Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II
- K. Coen, D. Pareyson, M. Auer-Grumbach, G. Buyse, N. Goemans, K. G. Claeys, N. Verpoorten, M. Laurà, V. Scaioli, W. Salmhofer, T. R. Pieber, E. Nelis, P. De Jonghe, and V. Timmerman
Neurology 2006; 66: 748-751.
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Small vessel abnormalities in alternating hemiplegia of childhood: Pathophysiologic implications
- S. Auvin, S. Joriot-Chekaf, J. C. Cuvellier, F. Pandit, J. M. Cuisset, M. M. Ruchoux, and L. Vallée
Neurology 2006; 66: 499-504.
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Familial risk of migraine: Variation by proband age at onset and headache severity
- W. F. Stewart, M. E. Bigal, K. Kolodner, A. Dowson, J. N. Liberman, and R. B. Lipton
Neurology 2006; 66: 344-348.
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Hyperacusis in Williams syndrome: Characteristics and associated neuroaudiologic abnormalities
- D. Gothelf, N. Farber, E. Raveh, A. Apter, and J. Attias
Neurology 2006; 66: 390-395.
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Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
- K. A. Kleopa, E. Zamba-Papanicolaou, X. Alevra, P. Nicolaou, D. -M. Georgiou, A. Hadjisavvas, T. Kyriakides, and K. Christodoulou
Neurology 2006; 66: 396-402.
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Unexpected pathogenic mechanism of a novel mutation in the coding sequence of SPG4 (spastin)
- J. Schickel, C. Beetz, C. Frömmel, G. Heide, A. Sasse, P. Hemmerich, and T. Deufel
Neurology 2006; 66: 421-423.
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Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy
- M. Linnebank, S. Kemp, R.J.A. Wanders, W. J. Kleijer, M. L.T. van der Sterre, J. Gärtner, K. Fliessbach, A. Semmler, P. Sokolowski, W. Köhler, U. Schlegel, S. Schmidt, T. Klockgether, and U. Wüllner
Neurology 2006; 66: 442-443.
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