SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

By Nakamura K.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1441-1448

Oxford University Press

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Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

By Winkelmann Juliane   Lin Ling   Schormair Barbara   Kornum Birgitte R.   Faraco Juliette   Plazzi Giuseppe   Melberg Atle   Cornelio Ferdinando   Urban Alexander E.   Pizza Fabio   Poli Francesca   Grubert Fabian   Wieland Thomas   Graf Elisabeth   Hallmayer Joachim   Strom Tim M.   Mignot Emmanuel  

Human Molecular Genetics, Vol. 21, Iss. 10, 2012-05 ,pp. : 2205-2210

Oxford University Press

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion

By van Regenmorter N.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 177-186

Oxford University Press

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Clinical, biochemical and molecular genetic correlations in Friedreich’s ataxia

By Bradley J.L.  

Human Molecular Genetics, Vol. 9, Iss. 2, 2000-01 ,pp. : 275-282

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Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

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Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 709-715

Oxford University Press

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