• A mutation in desmin makes skeletal muscle less vulnerable to acute muscle damage after eccentric loading in rats
• A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies
• A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein
• A novel phenotype with splicing mutation identified in a Chinese family with desminopathy
• A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings
• AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies
• AAV9-mediated gene transfer of desmin ameliorates cardiomyopathy in desmin-deficient mice
• Aberrant Mitochondrial Fission Is Maladaptive in Desmin Mutation-Induced Cardiac Proteotoxicity
• Abnormal spontaneous activity in primary myopathic disorders
• Activation of Yap1/Taz signaling in ischemic heart disease and dilated cardiomyopathy
• Added Value of Next Generation Sequencing in Characterizing the Evolution of HIV-1 Drug Resistance in Kenyan Youth
• Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies
• An unusual phenotype of late-onset desminopathy
• Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy
• Autophagic vacuolar pathology in desminopathies
• Bi-Allelic <em>DES</em> Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function
• Cardiac Fibrosis in Proteotoxic Cardiac Disease is Dependent Upon Myofibroblast TGF -β Signaling
• Case report of an exercise training and nutritional intervention plan in a patient with A350P mutation in DES gene
• Clinical and genetic analysis of a patient with Desminopathy manifesting initially with myalgia after lower limb activity
• Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
• Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes
• Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications
• Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
• Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
• Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy
• Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
• Desmin Modulates Muscle Cell Adhesion and Migration
• Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts
• Desmin variants: Trigger for cardiac arrhythmias?
• Desmin-related myopathy characterized by non-compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection
• Desmin, desminopathy and the complexity of genetics
• Desminopathy presenting as late onset bilateral facial weakness, with diagnosis supported by lower limb MRI
• Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction
• Developmental Alterations in Heart Biomechanics and Skeletal Muscle Function in Desmin Mutants Suggest an Early Pathological Root for Desminopathies
• Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness
• Early detection of cardiac involvement of desminopathy by cardiovascular magnetic resonance
• Editorial: Proteostasis in cardiac health and disease
• Effect of epicatechin consumption on the inflammatory pathway and mitochondria morphology in PBMC from a R350P desminopathy patient: A case report
• Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation
• Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
• Expanding the Phenotypic Spectrum of Desminopathy
• Features of myocardial injury detected by cardiac magnetic resonance in a patient with desmin-related restrictive cardiomyopathy
• Friedreich cardiomyopathy is a desminopathy
• 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
• 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
• Generation of desminopathy in rats using CRISPR-Cas9
• Genetic and antiretroviral drug resistance mutations analysis of reverse transcriptase and protease gene from Pakistani people living with HIV-1
• Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India
• Growing Old Too Early: Skeletal Muscle Single Fiber Biomechanics in Ageing R349P Desmin Knock-in Mice Using the <em>MyoRobot</em> Technology
• Heart Disease in Disorders of Muscle, Neuromuscular Transmission, and the Nerves
• Heart failure after pressure overload in autosomal-dominant desminopathies: Lessons from heterozygous DES-p.R349P knock-in mice
• Imbalances in protein homeostasis caused by mutant desmin
• Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria
• Intermediate filaments in cardiomyopathy
• Isolated cardiac desminopathy
• Isolated left bundle branch block progressing to complete heart block and asystole: A novel presentation of a desmin mutation
• Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions
• Mitochondrial proteomics reveal potential targets involved in mitochondrial abnormalities of desminopathy
• Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions
• Molecular insights into cardiomyopathies associated with desmin (DES) mutations
• Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue
• Myofibrillar and distal myopathies
• Myofibrillar Cardiomyopathy due to a Novel Desmin Gene Mutation: Complementary Role of Echocardiography, Cardiac Magnetic Resonance, and Genetic Testing in Delineating Diagnosis
• Myopathy With Crescent of Nuclei: A Novel Histopathologic Finding in Desminopathy
• N-acetyl-L-cysteine prevents stress-induced desmin aggregation in cellular models of desminopathy
• Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice
• Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia
• P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy
• Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
• Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B
• Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy
• Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy
• Phenotypic variability within the desminopathies: A case series of three patients
• Phosphorylation and degradation of αB-crystallin during enterovirus infection facilitates viral replication and induces viral pathogenesis
• Phosphorylation of NBR1 by GSK3 modulates protein aggregation
• Posttranslational modifications of desmin and their implication in biological processes and pathologies
• Preaged remodeling of myofibrillar cytoarchitecture in skeletal muscle expressing R349P mutant desmin
• Pregnancy in Desmin-Related Cardiomyopathy
• Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
• Recurrent suspected myocarditis combined with infrahisian conduction disturbances revealing a desminopathy
• Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (<em>DES</em>) Mutation p.Y122H Leading to a Severe Filament Assembly Defect
• Role of the Alpha-B-Crystallin Protein in Cardiomyopathic Disease
• Significance of Asymptomatic Hyper Creatine-Kinase Emia
• Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins
• Sudden cardiac death in neuromuscular disorders
• The Desmin (<em>DES</em>) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy
• The desmin mutation R349P increases contractility and fragility of stem cell-generated muscle micro-tissues
• The desmin network is a determinant of the cytoplasmic stiffness of myoblasts
• The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates
• The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
• The MyoRobot technology discloses a premature biomechanical decay of skeletal muscle fiber bundles derived from R349P desminopathy mice
• The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic <em>DES</em> Mutations Affecting Filament Assembly
• The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy
• The toxic effect of R350P mutant desmin in striated muscle of man and mouse
• Trouble at the junction: When myopathy and myasthenia overlap
• Two desmin gene mutations associated with myofibrillar myopathies in Polish families
• Voltage-Dependent Anion Channel 1(VDAC1) Participates the Apoptosis of the Mitochondrial Dysfunction in Desminopathy
• What does desmin do: A bibliometric assessment of the functions of the muscle intermediate filament
• αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments
• αB-Crystallin R120G variant causes cardiac arrhythmias and alterations in the expression of Ca(2+) -handling proteins and endoplasmic reticulum stress in mice