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Yoshihisa Takiyama

Niigata University

22

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863

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A large Japanese SPG4 family with a novel insertion mutation of the SPG4 gene: a clinical and genetic study

2001 Journal of the Neurological Sciences
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Meiotic instability of the CAG repeats in the SCA6/CACNA1A gene in two Japanese SCA6 families

2001 Journal of the Neurological Sciences
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Predisposing chromosome for spinocerebellar ataxia type 6 (SCA6) in Japanese.

2001 Journal of Medical Genetics
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A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter.

2000 Annals of Neurology
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An unusual case of facial diplegia

1999 Muscle & Nerve
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Single Sperm Analysis of the CAG Repeats in the Gene for Dentatorubral-Pallidoluysian Atrophy (DRPLA): The Instability of the CAG Repeats in the DRPLA Gene is Prominent Among the CAG Repeat Diseases

1999 Human Molecular Genetics
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A case of McLeod syndrome with unusually severe myopathy

1999 Journal of the Neurological Sciences
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Late cortical cerebellar atrophy

1999 Ryōikibetsu shōkōgun shirīzu
- Yoshihisa Takiyama
- Nakano I
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Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado‐Joseph disease

1998 Annals of Neurology
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Machado–Joseph disease gene products carrying different carboxyl termini

1997 Neuroscience Research
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Citations (70)