• A case of mitochondrial DNA depletion syndrome type 11 - expanding the genotype and phenotype
• A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia
• A new missense variant in RAB3GAP2 in a family with muscular dystrophy-short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
• A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review
• A retrospective cohort study exploring the association between different mitochondrial diseases and hearing loss
• A review of surgical management of progressive myogenic ptosis
• Advances in the Applications of Bioinformatics and Chemoinformatics
• Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
• Case Report: Rare Homozygous <em>RNASEH1</em> Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions
• Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms
• Changing faces of mitochondrial disease: autosomal recessive <em>POLG</em> disease mimicking myasthenia gravis and progressive supranuclear palsy
• Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy
• Chronic mimics of myasthenia gravis: a retrospective case series
• Chronic progressive external ophthalmoplegia plus syndrome due to homozygous missense variant in TOP3A gene
• Chronic progressive external ophthalmoplegia that could not be diagnosed by biceps muscle biopsy, but was genetically diagnosed by extraocular muscle biopsy
• Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review
• Clinical and imaging clues to the diagnosis and follow-up of ptosis and ophthalmoparesis
• Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy
• Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation
• Diagnosing myasthenia gravis using orthoptic measurements: assessing extraocular muscle fatiguability
• Diagnosis of Kearns-Sayre syndrome requires genetic confirmation
• Diagnosis of Kearns-Sayre syndrome requires genetic confirmation
• Effect of efgartigimod on muscle group subdomains in participants with generalized myasthenia gravis: post hoc analyses of the phase 3 pivotal ADAPT study
• Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review
• Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
• Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
• Exophthalmos associated with chronic progressive external ophthalmoplegia
• Exophthalmos associated with chronic progressive external ophthalmoplegia
• Eye manifestations in the <em>NSUN2</em> intellectual disability syndrome
• Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders
• French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)
• Frontalis Suspension in Muscular Dystrophy: 16-years Follow-up
• GDP-Mannose Pyrophosphorylase B (<em>GMPPB</em>)-Related Disorders
• Generalizable anchor aptamer strategy for loading nucleic acid therapeutics on exosomes
• Genome Sequencing for Diagnosing Rare Diseases
• Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review
• Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
• HNRNPA2B1 myopathy presenting in a family with an early onset oculopharyngeal muscular dystrophy-like phenotype
• Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins
• Horizontal gaze palsy with progressive scoliosis
• Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum
• Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern
• Implication of Corneal Refractive Surgery in Duchenne Muscular Dystrophy
• Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics
• Kearns-Sayre Syndrome
• Kearns-Sayre Syndrome
• Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletion
• KEARNS-SAYRE SYNDROME MASQUERADING AS MYASTHENIA GRAVIS
• Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
• Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
• Kidney manifestations of mitochondrial disorders
• Lady in red: A case of Kearns-Sayre syndrome supported by histopathology
• Living with chronic progressive external ophthalmoplegia alongside cataract, peptic ulcer disease, diabetes and hypertension in Ghana
• Macrocytosis in Mitochondrial DNA Deletion Syndromes
• Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review
• Mass spectrometry database of lacrimal gland adenoid cystic carcinoma and normal lacrimal gland tissue identifies extracellular matrix remodeling in these tumors
• Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives
• Mitochondrial augmentation of hematopoietic stem cells in children with single large-scale mitochondrial DNA deletion syndromes
• Mitochondrial Chronic Progressive External Ophthalmoplegia
• Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes
• Mitochondrial Dysfunction in Kidney Tubulopathies
• Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes
• Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
• Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile
• MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO)
• Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions
• Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia
• Neuropathic Pain as Main Manifestation of <em>POLG</em>-Related Disease: A Case Report
• Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions
• Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects
• Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome
• Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy
• Ocular findings in a Spanish cohort of myotonic dystrophy type 1
• One case of adult-onset dystonia presenting with chronic progressive external ophthalmoplegia
• Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
• Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis
• Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure
• Perioperative total intravenous anesthesia in a child with Walker-Warburg syndrome: A case report
• Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report
• Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder
• Potpourri of retinopathies in rare eye disease - A case series
• Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing
• Prevention of sudden death in Kearns-Sayre syndrome requires prospective studies
• Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort
• Progressive external ophthalmoplegia
• Progressive external ophthalmoplegia - A case report
• Progressive Keratoconus in a Patient With Severe Pectus Excavatum and a Cartilage Oligomeric Matrix Protein Gene Mutation: A Case Report
• Propofol and Kearns-Sayre Syndrome: An idiographic approach
• Ptosis Correction
• Ptosis Correction
• Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion
• Response to comments on: Diagnosis of Kearns-Sayre syndrome requires genetic confirmation
• Tau-RNA complexes inhibit microtubule polymerization and drive disease-relevant conformation change
• Teaching Video NeuroImage: <em>TWNK</em> Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype
• Teaching Video NeuroImage: TWNK Mutation Causes Chronic Progressive External Ophthalmoplegia and Cerebellar Ataxia: A POLG-Like Phenotype
• The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study
• The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions
• Ultrasonography in neurology: A comprehensive analysis and review
• Ventricular arrhythmias in Kearns-Sayre syndrome: A cohort study using the National Inpatient Sample database 2016-2019
• Videographic analysis of blink dynamics in patients with chronic progressive external ophthalmoplegia, myogenic ptosis, and facial nerve palsy using smartphone camera: A comparative analysis