Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot

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

Medicine, Genetics, Molecular Genetics +14

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions

Frédéric Saudou, Steven Finkbeiner, Didier Devys et al. · Cell · 1998 · 1.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +12

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Life Sciences, Genetics, Neurology +16

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

Susan E. Andrew, Y. Paul Goldberg, Berry Kremer et al. · Nature Genetics · 1993 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +12