Machado-Joseph Disease:Correlation between the ClinicalFeatures, the CAG Repeat Lengthand Homozygosity for the Mutation

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +11

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

Francis Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Nature · 1994 · 934 citations

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An lmproved method for directly sequencing PCR-amplified material using dimethyl sulphoxide

Peter R. Winship · Nucleic Acids Research · 1989 · 589 citations · Full text

Life Sciences, Biology, Molecular Biology +10

Homozygotes for Huntington's disease

Nancy S. Wexler, Anne B. Young, Rudolph E. Tanzi et al. · Nature · 1987 · 352 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano et al. · PubMed · 1995 · 320 citations

Medicine, Molecular Genetics, Molecular Medicine +12