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All Genetics
Citations 551-560 of 676 total displayed.
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Past content
(since Jan 2001):
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- ARTICLES
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
- E. Nelis, S. Erdem, P. Y.K. Van den Bergh, M.-C. Belpaire–Dethiou, C. Ceuterick, V. Van Gerwen, A. Cuesta, L. Pedrola, F. Palau, A. A.W.M. Gabreëls–Festen, C. Verellen, E. Tan, M. Demirci, C. Van Broeckhoven, P. De Jonghe, H. Topaloglu, and V. Timmerman
Neurology 2002; 59: 1865-1872.
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- ARTICLES
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
- C. A. Hodgkinson, S. Bohlega, S. N. Abu–Amero, E. Cupler, M. Kambouris, B. F. Meyer, and V. A. Bharucha
Neurology 2002; 59: 1905-1909.
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- BRIEF COMMUNICATIONS
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation
- A. Fogli, C. Dionisi-Vici, F. Deodato, A. Bartuli, O. Boespflug-Tanguy, and E. Bertini
Neurology 2002; 59: 1966-1968.
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- BRIEF COMMUNICATIONS
SPG3A: An additional family carrying a new atlastin mutation
- A. Tessa, C. Casali, M. Damiano, C. Bruno, D. Fortini, C. Patrono, F. Cricchi, M. Valoppi, G. Nappi, G.A. Amabile, E. Bertini, and F.M. Santorelli
Neurology 2002; 59: 2002-2005.
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- EDITORIALS
Sweetening the pot in muscle: Genetic defects of protein glycosylation causing muscle disease
- George Karpati and Paul Holland
Neurology 2002; 59: 1674-1676.
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- ARTICLES
Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy
- I. Nishino, S. Noguchi, K. Murayama, A. Driss, K. Sugie, Y. Oya, T. Nagata, K. Chida, T. Takahashi, Y. Takusa, T. Ohi, J. Nishimiya, N. Sunohara, E. Ciafaloni, M. Kawai, M. Aoki, and I. Nonaka
Neurology 2002; 59: 1689-1693.
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- ARTICLES
Evaluation of clinical diagnostic criteria for neurofibromatosis 2
- M. E. Baser, J. M. Friedman, A. J. Wallace, R. T. Ramsden, H. Joe, and D. G.R. Evans
Neurology 2002; 59: 1759-1765.
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- BRIEF COMMUNICATIONS
GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM
- Olavo M. Vasconcelos, Raghavan Raju, and Marinos C. Dalakas
Neurology 2002; 59: 1776-1779.
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- BRIEF COMMUNICATIONS
Clinical and genetic studies of families with the tau N279K mutation (FTDP-17)
- Y. Tsuboi, M. Baker, M. L. Hutton, R. J. Uitti, O. Rascol, M.-B. Delisle, X. Soulages, J. R. Murrell, B. Ghetti, M. Yasuda, O. Komure, S. Kuno, K. Arima, N. Sunohara, T. Kobayashi, Y. Mizuno, and Z. K. Wszolek
Neurology 2002; 59: 1791-1793.
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- ARTICLES
Chromosome 3 linked frontotemporal dementia (FTD-3)
- S. Gydesen, J.M. Brown, A. Brun, L. Chakrabarti, A. Gade, P. Johannsen, M. Rossor, T. Thusgaard, A. Grove, D. Yancopoulou, M.G. Spillantini, E.M.C. Fisher, J. Collinge, and S.A. Sorensen
Neurology 2002; 59: 1585-1594.
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