A Curtis

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats

David C. Rubinsztein, Jayne Leggo, Rhian Coles et al. · SPIRE - Sciences Po Institutional REpository · 1996 · 468 citations

Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Frances Elmslie, Sarah Hutchings, V. Spencer et al. · Journal of Medical Genetics · 1996 · 75 citations · Full text

Glycine Receptor, Genetics, Sporadic Hyperekplexia +16

A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.

Laura Wilson, A Curtis, Julie R. Korenberg et al. · PubMed · 1993 · 54 citations

X chromosome linkage studies in familial Rett syndrome

A Curtis, Sophie Headland, Susan Lindsay et al. · Human Genetics · 1993 · 44 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Kennedy's disease: Unusual molecular pathologic and clinical features

Pamela J. Shaw, H. Thagesen, Janine Tomkins et al. · Neurology · 1998 · 38 citations