Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 4K citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +6

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

Medicine, Neurology, Neuroscience +11

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

The survival motor neuron protein in spinal muscular atrophy

Daniel D. Coovert · Human Molecular Genetics · 1997 · 712 citations

Medicine, Neurology, Neuroscience +12

International SMA Consortium Meeting (26–28 June 1992, Bonn, Germany)

Theodore L. Munsat, Kay E. Davies · Neuromuscular Disorders · 1992 · 655 citations

Engineering, International Relations, Metrology +1