Associated Papers
Specification of frequency criteria for secondary findings genes to improve variant classification concordance.
Johnston JJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy.
Horvat C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE et al.
Neuromuscular Disorders : Nmd, 2016
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.
Maddison P et al.
European Neurology, 2012
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
Chourbagi O et al.
Experimental Cell Research, 2011
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
Hong D et al.
Neuropathology and Applied Neurobiology, 2011
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].
Hong DJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010
Mutations in desmin's carboxy-terminal "tail" domain severely modify filament and network mechanics.
Bär H et al.
Journal of Molecular Biology, 2010
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.
Mavroidis M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.
Goebel HH et al.
Neuromuscular Disorders : Nmd, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H et al.
Human Mutation, 2007
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D et al.
Brain : a Journal of Neurology, 2004