An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Markus Feldkötter, Verena Schwarzer, Radu Wirth et al. · The American Journal of Human Genetics · 2002 · 1K citations · Full text

Medicine, Molecular Biology, Molecular Genetics +8

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

Lars Brichta · Human Molecular Genetics · 2003 · 382 citations

Life Sciences, Genetics, Neurology +17

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

Judith Melki, Suzie Lefebvre, Lydie Bürglen et al. · Science · 1994 · 316 citations

Life Sciences, Genetics, Molecular Genetics +17

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

Charlotte J. Sumner, Thanh N. Huynh, Jennifer A. Markowitz et al. · Annals of Neurology · 2003 · 288 citations

Life Sciences, Genetics, Molecular Genetics +12

The Hammersmith Functional Motor Scale for Children with Spinal Muscular Atrophy: a Scale to Test Ability and Monitor Progress in Children with Limited Ambulation

Marion Main, Harvey Kairon, Eugenio Mercuri et al. · European Journal of Paediatric Neurology · 2003 · 241 citations

Medicine, Neurology, Pediatrics +17