Concepedia

A Japanese family with spinocerebellar ataxia type 6 which includes three individuals homozygous for an expanded CAG repeat in the SCA6/CACNL1A4 gene

Yoshihisa Takiyama, Kumi Sakoe, Michito Namekawa, Michiyo Soutome, Eisaku Esumi, Tomoko Ogawa, Kin-ya Ishikawa, Hidehiro Mizusawa, Imaharu Nakano, Masatoyo Nishizawa

Journal of the Neurological Sciences · 1998 · 39 citations · 30 references

DOI

Concepts

References

30

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.4K citations · Full text

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Manish A. Shah, Nicole A. Datson, Lakshmi Srinidhi et al. · Cell · 1993 · 3.1K citations

, , +12

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

Marian DiFiglia, Ellen Sapp, Kathryn Chase et al. · Science · 1997 · 2.9K citations

, , +16

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

, , +14

Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

Roel A. Ophoff, Gisela M. Terwindt, Monique N. Vergouwe et al. · Cell · 1996 · 2.3K citations · Full text

, , +16