Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

Genetics, Gene Characterization, Molecular Genetics +3

Correlation between severity and SMN protein level in spinal muscular atrophy

Suzie Lefebvre, Philippe Burlet, Qing Liu et al. · Nature Genetics · 1997 · 1.1K citations

Skeletal Muscle, Medicine, Pathology +7

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 · 994 citations · Full text

Real-time Lightcycler Pcr, Kinesiology, Medicine +6

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang, Richard S. Finkel, Enrico Bertini et al. · Journal of Child Neurology · 2007 · 917 citations

Spine Care, Primary Care, Medical Treatment +14

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3

Linda M. Brzustowicz, Thomas Lehner, Lucio H. Castilla et al. · Nature · 1990 · 617 citations

Developmental Biology, Genetic Disorder, Genetics +5