Associated Papers
Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.
Labella B et al.
Journal of Neuromuscular Diseases, 2025
Structural basis of nonmuscle myosin-2 autoinhibition mechanisms.
Heissler SM et al.
Biorxiv : the Preprint Server for Biology, 2025
Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.
Hedberg-Oldfors C et al.
Bmc Neurology, 2022
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Myogenic tremor - a novel tremor entity.
Schaefer J et al.
Current Opinion in Neurology, 2021
Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.
Madigan NN et al.
Acta Neuropathologica Communications, 2021
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.
Findlay AR et al.
Neuromuscular Disorders : Nmd, 2018
A Drosophila model of dominant inclusion body myopathy type 3 shows diminished myosin kinetics that reduce muscle power and yield myofibrillar defects.
Suggs JA et al.
Disease Models & Mechanisms, 2017
Mutations in the SH1 helix alter the thermal properties of myosin II.
Shibata K et al.
Biophysics and Physicobiology, 2017
A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.
Willis T et al.
Journal of Neurology, 2016
Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.
Cabrera-Serrano M et al.
Clinical Genetics, 2015
Genetic advances in sporadic inclusion body myositis.
Gang Q et al.
Current Opinion in Rheumatology, 2015
Hereditary inclusion-body myopathies.
Broccolini A et al.
Biochimica Et Biophysica Acta, 2015
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Tajsharghi H et al.
European Journal of Human Genetics : Ejhg, 2014
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.
D'Amico A et al.
Neuromuscular Disorders : Nmd, 2013
The myosin chaperone UNC-45 is organized in tandem modules to support myofilament formation in C. elegans.
Gazda L et al.
Cell, 2013
Myosinopathies: pathology and mechanisms.
Tajsharghi H et al.
Acta Neuropathologica, 2013
Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.
Wang Y et al.
Molecular Biology of the Cell, 2012
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R et al.
Human Molecular Genetics, 2012
Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
Tajsharghi H et al.
Brain : a Journal of Neurology, 2010
Beta-tropomyosin mutations alter tropomyosin isoform composition.
Nilsson J et al.
European Journal of Neurology, 2008
Thick filament diseases.
Oldfors A et al.
Advances in Experimental Medicine and Biology, 2008
Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys).
Li M et al.
Neuromuscular Disorders : Nmd, 2006
A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation.
Tajsharghi H et al.
Annals of Neurology, 2005
When contractile proteins go bad: the sarcomere and skeletal muscle disease.
Laing NG et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2005
Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
Tajsharghi H et al.
European Journal of Human Genetics : Ejhg, 2005
Dynamics of actomyosin interactions in relation to the cross-bridge cycle.
Zeng W et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2004
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
Bohlega S et al.
Neurology, 2004
Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.
Tajsharghi H et al.
Journal of Neurology, 2004
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
Tajsharghi H et al.
Neurology, 2002