Associated Papers
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Biorxiv : the Preprint Server for Biology, 2023
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C et al.
Journal of Medical Genetics, 2022
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.
Dai Z et al.
European Journal of Medical Genetics, 2017
Developmental myosins: expression patterns and functional significance.
Schiaffino S et al.
Skeletal Muscle, 2015
Fetal akinesia: review of the genetics of the neuromuscular causes.
Ravenscroft G et al.
Journal of Medical Genetics, 2011
Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.
Bonapace G et al.
American Journal of Medical Genetics. Part A, 2010
Thick and thin filament gene mutations in striated muscle diseases.
Tajsharghi H
International Journal of Molecular Sciences, 2008
Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation.
Minzer-Conzetti K et al.
Clinical Dysmorphology, 2008
Thick filament diseases.
Oldfors A et al.
Advances in Experimental Medicine and Biology, 2008
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
Toydemir RM et al.
American Journal of Medical Genetics. Part A, 2006
Inherited disposition to cardiac myxoma development.
Wilkes D et al.
Nature Reviews. Cancer, 2006
Clinical phenotypes and molecular genetic mechanisms of Carney complex.
Wilkes D et al.
The Lancet. Oncology, 2005
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
Veugelers M et al.
The New England Journal of Medicine, 2004