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All Genetics
Citations 291-300 of 676 total displayed.
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Past content
(since Jan 2001):
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- BRIEF COMMUNICATIONS
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
- D. A. Hall, E. Berry-Kravis, S. Jacquemont, C. D. Rice, J. Cogswell, L. Zhang, R. J. Hagerman, P. J. Hagerman, and M. A. Leehey
Neurology 2005; 65: 299-301.
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- CLINICAL/SCIENTIFIC NOTES
Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy
- J. P. O’Dwyer, C. Clabby, J. Crown, D. E. Barton, and M. Hutchinson
Neurology 2005; 65: 331-332.
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- CLINICAL/SCIENTIFIC NOTES
Systemic mastocytosis: A potential neurologic emergency
- G. B. Boncoraglio, A. Brucato, M. R. Carriero, E. Maccagnano, L. Robbiolo, L. O. Scappatura, D. Soligo, and E. A. Parati
Neurology 2005; 65: 332-333.
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- ARTICLES
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
- V. Bonifati, C. F. Rohé, G. J. Breedveld, E. Fabrizio, M. De Mari, C. Tassorelli, A. Tavella, R. Marconi, D. J. Nicholl, H. F. Chien, E. Fincati, G. Abbruzzese, P. Marini, A. De Gaetano, M. W. Horstink, J. A. Maat-Kievit, C. Sampaio, A. Antonini, F. Stocchi, P. Montagna, V. Toni, M. Guidi, A. Dalla Libera, M. Tinazzi, F. De Pandis, G. Fabbrini, S. Goldwurm, A. de Klein, E. Barbosa, L. Lopiano, E. Martignoni, P. Lamberti, N. Vanacore, G. Meco, B. A. Oostra, and The Italian Parkinson Genetics Network
Neurology 2005; 65: 87-95.
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- BRIEF COMMUNICATIONS
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
- M. Z. Cader, J. L. Steckley, D. A. Dyment, R. S. McLachlan, and G. C. Ebers
Neurology 2005; 65: 156-158.
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- BRIEF COMMUNICATIONS
A phenotype without spasticity in sacsin-related ataxia
- H. Shimazaki, Y. Takiyama, K. Sakoe, Y. Ando, and I. Nakano
Neurology 2005; 64: 2129-2131.
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- BRIEF COMMUNICATIONS
Effect of genetic modifiers on cerebral lesions in Fabry disease
- Gheona Altarescu, David F. Moore, and Raphael Schiffmann
Neurology 2005; 64: 2148-2150.
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- ARTICLES
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
- S. Lucioli, B. Giusti, E. Mercuri, O. Camacho Vanegas, L. Lucarini, V. Pietroni, A. Urtizberea, R. Ben Yaou, M. de Visser, A. J. van der Kooi, C. Bönnemann, S. T. Iannaccone, L. Merlini, K. Bushby, F. Muntoni, E. Bertini, M. -L. Chu, and G. Pepe
Neurology 2005; 64: 1931-1937.
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- BRIEF COMMUNICATIONS
A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa
- F. Asmus, V. Horber, J. Pohlenz, D. Schwabe, A. Zimprich, M. Munz, M. Schöning, and T. Gasser
Neurology 2005; 64: 1952-1954.
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- BRIEF COMMUNICATIONS
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
- Y. Li, H. Tomiyama, K. Sato, Y. Hatano, H. Yoshino, M. Atsumi, M. Kitaguchi, S. Sasaki, S. Kawaguchi, H. Miyajima, T. Toda, Y. Mizuno, and N. Hattori
Neurology 2005; 64: 1955-1957.
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