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All Genetics
Citations 551-560 of 679 total displayed.
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Past content
(since Jan 2001):
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- BRIEF COMMUNICATIONS
Somatic mosaicism and variable penetrance in doublecortin-associated migration disorders
- L. Aigner, G. Uyanik, S. Couillard-Despres, S. Ploetz, G. Wolff, D. Morris-Rosendahl, P. Martin, U. Eckel, S. Spranger, J. Otte, H. Woerle, H. Holthausen, N. Apheshiotis, D. Fluegel, and J. Winkler
Neurology 2003; 60: 329-332.
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- EXPEDITED ARTICLES
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
- V. A. Street, C. L. Bennett, J. D. Goldy, A. J. Shirk, K. A. Kleopa, B. L Tempel, H. P. Lipe, S. S. Scherer, T. D. Bird, and P. F. Chance
Neurology 2003; 60: 22-26.
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- EDITORIALS
GDAP1 mutations in CMT4: Axonal and demyelinating phenotypes?: The exception "proves the rule"
- Garth Nicholson and Robert Ouvrier
Neurology 2002; 59: 1835-1836.
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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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