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Journal of Medical Genetics|April 1, 1996
A novel splice site mutation in a Becker muscular dystrophy patientC Bartolo, A C Papp, P J Snyder, et al.
American Journal of Medical Genetics|March 1, 1994
Heteroduplex analysis of the dystrophin gene: application to point mutation and carrier detectionT W Prior, A C Papp, P J Snyder, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 22, 2020
Last step in the path of LDL cholesterol from lysosome to plasma membrane to ER is governed by phosphatidylserineMichael N Trinh, Michael S Brown, Joseph L Goldstein, et al.
The Journal of General Virology|July 31, 2009
Toll-like receptor 7-induced immune response to cutaneous West Nile virus infectionThomas Welte, Krystle Reagan, Hao Fang, et al.
Annals of Neurology|July 1, 1989
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular geneticsA Lombes, J R Mendell, H Nakase, et al.
Neurology|August 1, 1994
Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysisL J Ptáĉek, R Tawil, R C Griggs, et al.
Neurology|May 1, 1991
Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study GroupK L Burrow, D D Coovert, C J Klein, et al.
Plos Currents|March 22, 2013
Proof of concept of the ability of the kinect to quantify upper extremity function in dystrophinopathyLinda P Lowes, Lindsay N Alfano, Brent A Yetter, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|April 18, 2012
RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapyLindsay M Wallace, Jian Liu, Jacqueline S Domire, et al.
Biorxiv : the Preprint Server for Biology|July 9, 2025
<i>Plagl1</i> and <i>Lrrc58</i> control mammalian body size by triggering target-directed microRNA degradation of miR-322 and miR-503Collette A LaVigne, Jaeil Han, He Zhang, et al.
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