• <em>DNAJB2</em> c.184C&gt;T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
• A <em>tropomyosin-receptor kinase-fused</em> gene mutation associates with vacuolar myopathy
• A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
• A novel heterozygous mutation in the C-terminal region of HSPB8 leads to limb-girdle rimmed vacuolar myopathy
• A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy
• A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology
• A rare cause of impaired general condition: Muscular and cardiac toxicity of antimalarials
• A tropomyosin-receptor kinase-fused gene mutation associates with vacuolar myopathy
• ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles
• Activation of the Keap1/Nrf2 stress response pathway in autophagic vacuolar myopathies
• Altered <em>in vitro</em> muscle differentiation in X-linked myopathy with excessive autophagy
• An unusual presentation of scleromyxedema as inflammatory myopathy
• ATG14 and RB1CC1 play essential roles in maintaining muscle homeostasis
• Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report
• Autophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3
• Autophagic vacuolar myopathy is a common feature of CLN3 disease
• Autophagy Defects in Skeletal Myopathies
• Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
• Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
• C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
• Chloroquine and Hydroxychloroquine Myopathy: Clinical Spectrum and Treatment Outcomes
• Class 3 PI3K coactivates the circadian clock to promote rhythmic de novo purine synthesis
• Clinical characteristics of Danon disease
• Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
• Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature
• Clinical, imaging, morphologic, and molecular features of X-linked VMA21-related myopathy in two unrelated Brazilian families
• Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy
• Creatine transport and pathological changes in creatine transporter deficient mice
• Danon disease: Gender differences in presentation and outcomes
• Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment
• Degeneration of muscle spindles in a murine model of Pompe disease
• Diagnosing X-Linked Myopathy With Excessive Autophagy After 30 years: Genetic, Ultrasonographic, and Electrodiagnostic Findings
• Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects
• Differential diagnosis of vacuolar myopathies in the NGS era
• Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients
• Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3
• Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation
• DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
• DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies
• Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G&gt;A (p.R528H) mutation in the CACNA1S Gene
• Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
• Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report
• Generalized Muscular Uptake of 99m Tc-MDP on Bone Scan in a Patient With Scleromyxedema-Associated Myopathy
• GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
• GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2)
• HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy
• HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes
• Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
• Human immunodeficiency virus-associated vacuolar encephalomyelopathy with granulomatous-lymphocytic interstitial lung disease improved after antiretroviral therapy: a case report
• Hydroxychloroquine-induced autophagic vacuolar myopathy with mitochondrial abnormalities
• Identification of a Novel Intronic Mutation in <em>VMA21</em> Associated with a Classical Form of X-Linked Myopathy with Autophagy
• Identification of Cellular Pathogenicity Markers for SIL1 Mutations Linked to Marinesco-Sjögren Syndrome
• Immunotherapy-refractory vacuolar myopathy with mucin deposition in scleromyxedema: A possible role of fibroblast growth factor 2
• Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
• International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review
• Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease
• Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone
• Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1
• Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
• Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway
• Mild form of Danon disease: two case reports
• Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum
• Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature
• Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
• Myopathy and scleromyxedema
• MYTHO is a novel regulator of skeletal muscle autophagy and integrity
• Neuromuscular disease: 2021 update
• Neuromuscular transmission defects in myopathies: Rare but worth searching for
• New family with <em>HSPB</em>8-associated autosomal dominant rimmed vacuolar myopathy
• New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
• NOTCH2NLC-related oculopharyngodistal myopathy type 3 complicated with focal segmental glomerular sclerosis: a case report
• Novel autophagic vacuolar myopathies: Phenotype and genotype features
• Novel Intronic Mutation in <em>VMA21</em> Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report
• Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy
• Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation
• Pompe disease: An Indian series diagnosed on muscle biopsy by ultrastructural characterization
• Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy
• Review: Danon disease: Review of natural history and recent advances
• Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies
• Severe congenital X-linked myopathy with excessive autophagy secondary to an apparently synonymous but pathogenic novel variant
• Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report
• SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
• Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders
• Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease
• Skeletal Muscle-Specific <em>Bis</em> Depletion Leads to Muscle Dysfunction and Early Death Accompanied by Impairment in Protein Quality Control
• Spastic paraparesis caused by X-linked adrenoleukodystrophy mimicking vacuolar myelopathy in a human immunodeficiency virus patient: A case report
• Systemic AAV9.LAMP2B injection reverses metabolic and physiologic multiorgan dysfunction in a murine model of Danon disease
• Teaching NeuroImages: Colchicine-induced vacuolar myopathy
• The clinical features and TCAP mutation spectrum in a Chinese cohort of patients with limb-girdle muscular dystrophy R7
• The clinical spectrum of <em>CASQ1</em>-related myopathy
• Treatment responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy (MGAM)
• Treatment-responsive glycogen storage myopathy in a patient with POEMS syndrome: A new monoclonal gammopathy-associated myopathy
• ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97
• Use of Colchicine for Pericardial Inflammation: Risks and Toxicities-A Cautionary Tale
• Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report
• Vacuolar-ATPase-mediated muscle acidification caused muscular mechanical nociceptive hypersensitivity after chronic stress in rats, which involved extracellular matrix proteoglycan and ASIC3
• VCP-related myopathy: a case series and a review of literature
• X-linked Myopathy with Excessive Autophagy - A Rare Cause of Vacuolar Myopathy in Children
• X-Linked Myopathy with Excessive Autophagy; A Case Report
• X-linked myopathy with excessive autophagy: First report of an Israeli family presenting with late onset lower limb girdle weakness