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Annals of Clinical and Translational Neurology|December 15, 2024
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium studyLindsay N Alfano, Meredith K James, Kristine Grosfjeld Petersen, et al.Neuromuscular Disorders : NMD|April 10, 2026
Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium studyStephanie M Hunn, Andrew R Findlay, Lindsay N Alfano, et al.American Journal of Human Genetics|May 11, 2023
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophyJoel A Morales-Rosado, Tanya L Schwab, Sarah K Macklin-Mantia, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasetsBen Weisburd, Rakshya Sharma, Villem Pata, et al.Acta Neuropathologica|February 17, 2023
Variants in DTNA cause a mild, dominantly inherited muscular dystrophyAndres Nascimento, Christine C Bruels, Sandra Donkervoort, et al.Neuromuscular Disorders : NMD|June 4, 2013
Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research NetworkAnne M Connolly, Julaine M Florence, Mary M Cradock, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 13, 2024
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data setsBen Weisburd, Rakshya Sharma, Villem Pata, et al.Human Mutation|April 3, 2014
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMinttu Marttila, Vilma-Lotta Lehtokari, Steven Marston, et al.Science Translational Medicine|April 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBeryl B Cummings, Jamie L Marshall, Taru Tukiainen, et al.Nature Communications|February 19, 2021
POLRMT mutations impair mitochondrial transcription causing neurological diseaseMonika Oláhová, Bradley Peter, Zsolt Szilagyi, et al.Pageof 15