Arthur H.M. Burghes

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

Jerry R. Mendell, Samiah Al-Zaidy, Richard Shell et al. · New England Journal of Medicine · 2017 · 2.2K citations · Full text

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

Kevin D. Foust, Xueyong Wang, Vicki L. McGovern et al. · Nature Biotechnology · 2010 · 685 citations · Full text

Knockout Mouse, Early Postnatal Delivery, Spinal Cord Injury +8

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Elizabeth E. Zubrzycka‐Gaarn, Dennis E. Bulman, George Karpati et al. · Nature · 1988 · 659 citations

Muscle Physiology, Skeletal Muscle, Human Skeletal Muscle +5

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN

Thanh T. Le, Lan T. Pham, Matthew E.R. Butchbach et al. · Human Molecular Genetics · 2005 · 588 citations · Full text

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 · 529 citations · Full text

Genetic Analysis, Spinal Cord Injury, Genetic Disorder +9