Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
Santhoshkumar R et al.
Journal of Molecular Neuroscience : Mn, 2021
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield EV et al.
Bmc Medicine, 2021
34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG et al.
European Journal of Human Genetics : Ejhg, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Brodehl A et al.
Human Mutation, 2016
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
Clemen CS et al.
Acta Neuropathologica, 2015
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A et al.
Circulation. Cardiovascular Genetics, 2013
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
McLaughlin HM et al.
Bmc Medical Genetics, 2013
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities.
Henderson M et al.
Acta Neuropathologica, 2013
Select a paper to view details