Associated Papers
Muscular dystrophy patients show low exercise-induced blood flow in muscles with normal strength.
Gera O et al.
Annals of Clinical and Translational Neurology, 2024
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Phenotypic variability within the desminopathies: A case series of three patients.
Yeow D et al.
Frontiers in Neurology, 2022
Transiently structured head domains control intermediate filament assembly.
Zhou X et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Autophagic vacuolar pathology in desminopathies.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2015
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2012
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
Sharma S et al.
Journal of Molecular Medicine (berlin, Germany), 2009
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
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.
Selcen D et al.
Brain : a Journal of Neurology, 2004