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Neurology|January 14, 2021
CLIA Laboratory Testing for Facioscapulohumeral Dystrophy: A Retrospective AnalysisAutumn Rieken, Aaron D Bossler, Katherine D Mathews, et al.Current Neurology and Neuroscience Reports|January 1, 2003
Limb-girdle muscular dystrophyKatherine D Mathews, Steven A MooreMuscle & Nerve|January 25, 2018
Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's dataCourtney R Carlson, Steven A Moore, Katherine D MathewsJournal of the Peripheral Nervous System : JPNS|April 3, 2012
Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARSJamie M Eskuri, Christine M Stanley, Steven A Moore, et al.The Journal of Molecular Diagnostics : JMD|August 13, 2021
Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular DystrophyAaron A Stence, Jon G Thomason, Jonathan A Pruessner, et al.Seminars in Pediatric Neurology|June 6, 2003
Hereditary causes of chorea in childhoodKatherine D MathewsNeurologic Clinics|January 28, 2004
Muscular dystrophy overview: genetics and diagnosisKatherine D MathewsCase Reports in Neurology|July 27, 2023
Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1Aparna Ajjarapu, Shawna M E Feely, Michael E Shy, et al.Human Molecular Genetics|December 22, 2011
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscleGeorge Dialynas, Kaitlin M Flannery, Luka N Zirbel, et al.Pageof 26