Concepedia

Clinical and molecular genetic study in seven Japanese families with spinocerebellar ataxia type 6

Yoshitaka Nagai, Tsutomu Azuma, Masahiro Funauchi, Masashi Fujita, Masao Umi, Makito Hirano, Tsuyoshi Matsubara, Satoshi Ueno

Journal of the Neurological Sciences · 1998 · 35 citations · 48 references

DOI

Concepts

References

48

“Mini-mental state”

Marshal F. Folstein, Susan E. Folstein, Paul R. McHugh · Journal of Psychiatric Research · 1975 · 86.9K citations

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

, , +13

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

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