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All Genetics
Citations 421-430 of 676 total displayed.
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Past content
(since Jan 2001):
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- EDITORIALS
Where has all the white matter gone?: Unraveling the mysteries of leukoencephalopathies
- Edward M. Kaye and Hugo Moser
Neurology 2004; 62: 1464-1465.
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- VIEWS & REVIEWS
Clinical and histologic findings in autosomal centronuclear myopathy
- P.-Y. Jeannet, G. Bassez, B. Eymard, P. Laforêt, J. A. Urtizberea, A. Rouche, P. Guicheney, M. Fardeau, and N. B. Romero
Neurology 2004; 62: 1484-1490.
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- ARTICLES
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
- N. I. Wolf, M. A.A.P. Willemsen, U. F. Engelke, M. S. van der Knaap, P. J.W. Pouwels, I. Harting, J. Zschocke, E. A. Sistermans, D. Rating, and R. A. Wevers
Neurology 2004; 62: 1503-1508.
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- ARTICLES
The effect of genotype on the natural history of eIF2B-related leukodystrophies
- A. Fogli, R. Schiffmann, E. Bertini, S. Ughetto, P. Combes, E. Eymard-Pierre, C. R. Kaneski, M. Pineda, M. Troncoso, G. Uziel, R. Surtees, D. Pugin, M. -P. Chaunu, D. Rodriguez, and O. Boespflug-Tanguy
Neurology 2004; 62: 1509-1517.
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- ARTICLES
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy
- S. Bohlega, S. N. Abu-Amero, S. M. Wakil, P. Carroll, R. Al-Amr, B. Lach, Y. Al-Sayed, E. J. Cupler, and B. F. Meyer
Neurology 2004; 62: 1518-1521.
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- ARTICLES
Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene
- N. Bissar-Tadmouri, E. Nelis, S. Züchner, Y. Parman, F. Deymeer, P. Serdaroglu, P. De Jonghe, V. Van Gerwen, V. Timmerman, J. M. Schröder, and E. Battaloglu
Neurology 2004; 62: 1522-1525.
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- BRIEF COMMUNICATIONS
Arg113His mutation in eIF2B as cause of leukoencephalopathy in adults
- M. S. van der Knaap, P. A.J. Leegwater, C. G.M. van Berkel, C. Brenner, E. Storey, M. Di Rocco, F. Salvi, and J. C. Pronk
Neurology 2004; 62: 1598-1600.
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- BRIEF COMMUNICATIONS
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5
- H. Ohtake, T. Shimohata, K. Terajima, T. Kimura, R. Jo, R. Kaseda, O. Iizuka, M. Takano, Y. Akaiwa, H. Goto, H. Kobayashi, T. Sugai, T. Muratake, T. Hosoki, T. Shioiri, K. Okamoto, O. Onodera, K. Tanaka, T. Someya, T. Nakada, and S. Tsuji
Neurology 2004; 62: 1601-1603.
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- BRIEF COMMUNICATIONS
Distal myopathy with rimmed vacuoles (DMRV): New GNE mutations and splice variant
- H. Tomimitsu, J. Shimizu, K. Ishikawa, N. Ohkoshi, I. Kanazawa, and H. Mizusawa
Neurology 2004; 62: 1607-1610.
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- BRIEF COMMUNICATIONS
HFE mutations are not strongly associated with sporadic ALS
- A. A. Yen, E. P. Simpson, J. S. Henkel, D. R. Beers, and S. H. Appel
Neurology 2004; 62: 1611-1612.
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