Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

Intraclass correlations: Uses in assessing rater reliability.

Patrick E. Shrout, Joseph L. Fleiss · Psychological Bulletin · 1979 · 23K citations

Social Sciences, Psychology, Individual Differences +14

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

Long-Term Treatment of Girls with Ornithine Transcarbamylase Deficiency

Nancy E. Maestri, Saul W. Brusilow, David B. Clissold et al. · New England Journal of Medicine · 1996 · 259 citations · Full text

Life Sciences, Biochemistry, Pediatrics +17