Disease: Ocular Muscular Dystrophy
- 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
- Atheromatosis of the Scalp: A Novel Feature of Chronic Progressive External Ophthalmoplegia Plus Due to a Single Mitochondrial DNA Deletion
- 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
- 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 and molecular spectrum associated with Polymerase-γ related disorders
- 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
- 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
- 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
- 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
- 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 a novel large-scale deletion: a case report
- Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation
- Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy
- 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 External Ophthalmoplegia Diagnosed in the Glaucoma Clinic: The Importance of a Complete Clinical Examination
- 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
- Systemic manifestations and symptom burden of facioscapulohumeral muscular dystrophy in a referral cohort
- 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, 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