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International Journal of Molecular Sciences|October 14, 2023
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the <i>DMD</i> GeneLeoni S Erbe, Sabine Hoffjan, Sören Janßen, et al.
Neuromuscular Disorders : NMD|April 8, 2022
Serum miRNAs as biomarkers for the rare types of muscular dystrophyAndrie Koutsoulidou, Demetris Koutalianos, Kristia Georgiou, et al.
The Journal of Pathology|October 2, 2021
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvementAndrea Gangfuß, Artur Czech, Andreas Hentschel, et al.
Human Molecular Genetics|April 13, 2018
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neuronsVeronika Boczonadi, Kathrin Meyer, Humberto Gonczarowska-Jorge, et al.
Molecular Metabolism|April 22, 2022
SGPL1 stimulates VPS39 recruitment to the mitochondria in MICU1 deficient cellsJoshua Jackson, Lena Wischhof, Enzo Scifo, et al.
Acta Neuropathologica|September 29, 2023
Senescent fibro-adipogenic progenitors are potential drivers of pathology in inclusion body myositisChristopher Nelke, Christina B Schroeter, Lukas Theissen, et al.
Skeletal Muscle|August 30, 2018
Biochemical and pathological changes result from mutated Caveolin-3 in muscleJosé Andrés González Coraspe, Joachim Weis, Mary E Anderson, et al.
Neuropathology and Applied Neurobiology|January 11, 2021
Molecular pathophysiology of human MICU1 deficiencyNicolai Kohlschmidt, Miriam Elbracht, Artur Czech, et al.
Acta Neuropathologica|December 24, 2013
Myopathy in Marinesco-Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathologyAndreas Roos, Stephan Buchkremer, Laxmikanth Kollipara, et al.
Scientific Reports|October 3, 2024
Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic studyAlexander Schaiter, Andreas Hentschel, Felix Kleefeld, et al.
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