Case report - Recurrent myocarditis-like episodes in a patient with a rare variant in DES gene: an uncommon hot-phases cardiomyopathy.

Novel muscle MRI features in Desmin related myasthenic myopathy.

Epidermolysis Bullosa Related to the KLHL24 Gene: A Rare Pediatric Manifestation of Arrhythmogenic Cardiomyopathy.

Natural History and Phenotypic Spectrum of Myofibrillar Myopathies and Myopathies Associated With MFM-Related Genes.

Quantification of Exercise-Induced Sarcomeric Damage in R349P Desmin Knock-In Mice: A New Approach in Myofibrillar Myopathy Research.

Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience.

Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features.

Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.

Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation.

Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.

TANGO2 binds crystallin alpha B and its loss causes desminopathy.

Severe conduction block and cardiomyopathy associated with desminopathy.

Fiber Type-Specific Proteomic Alterations in R349P Desminopathy Mice.

Mutational and clinical spectrum of myofibrillar myopathy in one center from China.

The deubiquitinase USP5 prevents accumulation of protein aggregates in cardiomyocytes.

Common and Key Differential Pathogenic Pathways in Desminopathy and Titinopathy.

Expanding the Phenotypic Spectrum of Desminopathy.

Myopathy With Crescent of Nuclei: A Novel Histopathologic Finding in Desminopathy.

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

Effect of epicatechin consumption on the inflammatory pathway and mitochondria morphology in PBMC from a R350P desminopathy patient: A case report.

Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.

Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.

Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease.

Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria.

[Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity].

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.

The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.

Phenotypic variability within the desminopathies: A case series of three patients.

Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.

The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.

Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.

A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.

Early detection of cardiac involvement of desminopathy by cardiovascular magnetic resonance.

Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.

Friedreich cardiomyopathy is a desminopathy.

The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues.

A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats.

Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.

P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.

Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI.

Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.

Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions.

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.

Generation of desminopathy in rats using CRISPR-Cas9.

Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the MyoRobot Technology.

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene.

Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice.

Significance of Asymptomatic Hyper Creatine-Kinase Emia.

Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice.

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.

Imbalances in protein homeostasis caused by mutant desmin.

Aberrant Mitochondrial Fission Is Maladaptive in Desmin Mutation-Induced Cardiac Proteotoxicity.

Molecular insights into cardiomyopathies associated with desmin (DES) mutations.

Isolated left bundle branch block progressing to complete heart block and asystole: A novel presentation of a desmin mutation.

Phosphorylation and degradation of αB-crystallin during enterovirus infection facilitates viral replication and induces viral pathogenesis.

Preaged remodeling of myofibrillar cytoarchitecture in skeletal muscle expressing R349P mutant desmin.

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.

Isolated cardiac desminopathy.

Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis.

Abnormal spontaneous activity in primary myopathic disorders.

Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy.

Mitochondrial proteomics reveal potential targets involved in mitochondrial abnormalities of desminopathy.

Myofibrillar and distal myopathies.

Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice.

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.

Desmin, desminopathy and the complexity of genetics.

Sudden cardiac death in neuromuscular disorders.

Pregnancy in Desmin-Related Cardiomyopathy.

Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy.

Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy.

Autophagic vacuolar pathology in desminopathies.