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Neurology
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All Genetics

Citations 1-10 of 629 total displayed.

Most recent content (6 Jan 2009):

ARTICLES
A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family
Nikolay Mintchev, Eleni Zamba-Papanicolaou, Kleopas A. Kleopa, and Kyproula Christodoulou
Neurology 2009; 72: 28-32. [Abstract] [Full text] [PDF]  

Past content (since Jan 2001):

ARTICLES
Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
R. Del Bo, M. Moggio, M. Rango, S. Bonato, M. G. D’Angelo, S. Ghezzi, G. Airoldi, M. T. Bassi, M. Guglieri, L. Napoli, C. Lamperti, S. Corti, A. Federico, N. Bresolin, and G. P. Comi
Neurology 2008; 71: 1959-1966. [Abstract] [Full text] [PDF]  

ARTICLES
The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa
P. Richard, K. Gaudon, H. Haddad, A. Ben Ammar, E. Genin, S. Bauché, M. Paturneau-Jouas, J. S. Müller, H. Lochmüller, D. Grid, A. Hamri, S. Nouioua, M. Tazir, M. Mayer, C. Desnuelle, A. Barois, B. Chabrol, J. Pouget, J. Koenig, N. Gouider-Khouja, F. Hentati, B. Eymard, and D. Hantaï
Neurology 2008; 71: 1967-1972. [Abstract] [Full text] [PDF]  

ARTICLES
Altered language processing in autosomal dominant partial epilepsy with auditory features
R. Ottman, L. Rosenberger, A. Bagic, K. Kamberakis, E. K. Ritzl, A. M. Wohlschlager, S. Shamim, S. Sato, C. Liew, W. D. Gaillard, E. Wiggs, M. M. Berl, P. Reeves-Tyer, E. H. Baker, J. A. Butman, and W. H. Theodore
Neurology 2008; 71: 1973-1980. [Abstract] [Full text] [PDF]  

ARTICLES
Is olfactory impairment in Parkinson disease related to phenotypic or genotypic characteristics?
D. Verbaan, S. Boesveldt, S. M. van Rooden, M. Visser, J. Marinus, M. G. Macedo, Y. Fang, P. Heutink, H. W. Berendse, and J. J. van Hilten
Neurology 2008; 71: 1877-1882. [Abstract] [Full text] [PDF]  

ARTICLES
New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations
M. Ohlsson, S. Quijano-Roy, N. Darin, G. Brochier, E. Lacène, D. Avila-Smirnow, M. Fardeau, A. Oldfors, and H. Tajsharghi
Neurology 2008; 71: 1896-1901. [Abstract] [Full text] [PDF]  

ARTICLES
Progression of dopaminergic dysfunction in a LRRK2 kindred: A multitracer PET study
R. Nandhagopal, E. Mak, M. Schulzer, J. McKenzie, S. McCormick, V. Sossi, T. J. Ruth, A. Strongosky, M. J. Farrer, Z. K. Wszolek, and A. J. Stoessl
Neurology 2008; 71: 1790-1795. [Abstract] [Full text] [PDF]  

ARTICLES
Multiple sclerosis and the TNFRSF1A R92Q mutation: Clinical characteristics of 21 cases
T. Kümpfel, L-A Hoffmann, H. Pellkofer, W. Pöllmann, W. Feneberg, R. Hohlfeld, and P. Lohse
Neurology 2008; 71: 1812-1820. [Abstract] [Full text] [PDF]  

EDITORIALS
Hereditary motor neuropathy and heat shock proteins: A shocking transformation
Clifton Gooch and Michael Shy
Neurology 2008; 71: 1656-1657. [Full text] [PDF]  

ARTICLES
Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2
H. Houlden, M. Laura, F. Wavrant–De Vrièze, J. Blake, N. Wood, and M. M. Reilly
Neurology 2008; 71: 1660-1668. [Abstract] [Full text] [PDF]  

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 Genetics
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 Neurofibromatosis
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 Spinocerebellar ataxia
 Trinucleotide repeat diseases
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