Associated Papers
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B et al.
Journal of Child Neurology, 2022
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
Altuame FD et al.
American Journal of Medical Genetics. Part A, 2021
Multifaceted Function of Myosin-18, an Unconventional Class of the Myosin Superfamily.
Ouyang Z et al.
Frontiers in Cell and Developmental Biology, 2021
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.
Mihaylova V et al.
Neurology. Genetics, 2020
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
Schieffer KM et al.
European Journal of Medical Genetics, 2019
A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.
Malfatti E et al.
Journal of Neuromuscular Diseases, 2015
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