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Neurogenetics|February 29, 2012
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicoresSteven E Boyden, Lane J Mahoney, Genri Kawahara, et al.
Physiological Genomics|October 23, 2018
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and SudanMadhurima Saha, Hemakumar M Reddy, Mustafa A Salih, et al.
FEBS Letters|September 19, 2024
The splicing factor hnRNPL demonstrates conserved myocardial regulation across species and is altered in heart failureIsabelle Draper, Wanting Huang, Suchita Pande, et al.
Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|July 19, 2025
Preclinical quality, safety, and efficacy of a CGMP iPSC-derived myogenic progenitor product for the treatment of muscular dystrophiesKarim Azzag, Alessandro Magli, James Kiley, et al.
Pediatric Neurology|February 15, 2023
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne SyndromeSeth A Stafki, Johnnie Turner, Hannah R Littel, et al.
The FEBS Journal|January 17, 2025
Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Biorxiv : the Preprint Server for Biology|June 21, 2024
Effects of HMGCR deficiency on skeletal muscle developmentMekala Gunasekaran, Hannah R Littel, Natalya M Wells, et al.
Neurology. Genetics|April 6, 2026
Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9John Vissing, Tahseen Mozaffar, Nicholas E Johnson, et al.
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