Patricia McAndrew

Identification of Proximal Spinal Muscular Atrophy Carriers and Patients by Analysis of SMNT and SMNC Gene Copy Number

Patricia McAndrew, D. Williams Parsons, Louise R. Simard et al. · The American Journal of Human Genetics · 1997 · 533 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Myoblast Transfer in the Treatment of Duchenne's Muscular Dystrophy

Jerry R. Mendell, John T. Kissel, Anthony A. Amato et al. · New England Journal of Medicine · 1995 · 522 citations · Full text

Medicine, Genetics, Molecular Genetics +13

Mutation detection in the <i>ABCC6</i> gene and genotype–phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Ellen G Pfendner, O. Vanakker, Sharon F. Terry et al. · Journal of Medical Genetics · 2007 · 197 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

D. Williams Parsons, Patricia McAndrew, ST Iannaccone et al. · The American Journal of Human Genetics · 1998 · 177 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy

Alissa V. Winnard, Christopher J. Klein, Daniel D. Coovert et al. · Human Molecular Genetics · 1993 · 99 citations

Medicine, Molecular Genetics, Molecular Medicine +15