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Spinocerebellar ataxia

Citations 1-9 of 9 total displayed.

Most recent content (23 Sep 2008):

ARTICLES
Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms
T. Schmitz-Hübsch, M. Coudert, P. Bauer, P. Giunti, C. Globas, L. Baliko, A. Filla, C. Mariotti, M. Rakowicz, P. Charles, P. Ribai, S. Szymanski, J. Infante, B.P.C. van de Warrenburg, A. Dürr, D. Timmann, S. Boesch, R. Fancellu, R. Rola, C. Depondt, L. Schöls, E. Zdienicka, J. -S. Kang, S. Döhlinger, B. Kremer, D. A. Stephenson, B. Melegh, M. Pandolfo, S. di Donato, S. Tezenas du Montcel, and T. Klockgether
Neurology 2008; 71: 982-989. [Abstract] [Full text] [PDF]  

Past content (since Mar 2003):

EDITORIALS
Yet another spinocerebellar ataxia: The saga continues
O. Bandmann and A. B. Singleton
Neurology 2008; 71: 542-543. [Full text] [PDF]  

ARTICLES
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families
K. Hara, A. Shiga, H. Nozaki, J. Mitsui, Y. Takahashi, H. Ishiguro, H. Yomono, H. Kurisaki, J. Goto, T. Ikeuchi, S. Tsuji, M. Nishizawa, and O. Onodera
Neurology 2008; 71: 547-551. [Abstract] [Full text] [PDF]  

ARTICLES
SCA Functional Index: A useful compound performance measure for spinocerebellar ataxia
T. Schmitz-Hübsch, P. Giunti, D. A. Stephenson, C. Globas, L. Baliko, F. Saccà, C. Mariotti, M. Rakowicz, S. Szymanski, J. Infante, B.P.C. van de Warrenburg, D. Timmann, R. Fancellu, R. Rola, C. Depondt, L. Schöls, E. Zdzienicka, J. -S. Kang, S. Döhlinger, B. Kremer, B. Melegh, A. Filla, and T. Klockgether
Neurology 2008; 71: 486-492. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
INTERNAL JUGULAR VEIN VALVE INSUFFICIENCY IN COUGH SYNCOPE
Grzegorz Styczynski, Anna Dobosiewicz, Piotr Abramczyk, and Maria Styczynska
Neurology 2008; 70: 812-813. [Full text] [PDF]  

ARTICLES
Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)
J. Hübner, A. Sprenger, C. Klein, J. Hagenah, H. Rambold, C. Zühlke, D. Kömpf, A. Rolfs, H. Kimmig, and C. Helmchen
Neurology 2007; 69: 1160-1168. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
LIMBIC ENCEPHALITIS AS PRESENTATION OF A SAP DEFICIENCY
H. Verhelst, R. Van Coster, N. Bockaert, G. Laureys, S. Latour, A. Fischer, and F. Haerynck
Neurology 2007; 69: 218-219. [Full text] [PDF]  

ARTICLES
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
B. P.C. van de Warrenburg, D. S. Verbeek, S. J. Piersma, F. A.M. Hennekam, P. L. Pearson, N. V.A.M. Knoers, H. P.H. Kremer, and R. J. Sinke
Neurology 2003; 61: 1760-1765. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Phenotypic variability of aprataxin gene mutations
C. Tranchant, M. Fleury, M. C. Moreira, M. Koenig, and J. M. Warter
Neurology 2003; 60: 868-870. [Abstract] [Full text] [PDF]  

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* Related collections:
 Genetics
 All Genetics
 Neurofibromatosis
 Other neurocutaneous disorders
 Genetic linkage
 Association studies in genetics
 Gene expression studies
 Gene therapy
 Mitochondrial disorders
 Ion channel gene defects
 Spinocerebellar ataxia
 Trinucleotide repeat diseases
 Chromosomes


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