Disease: Progressive external ophthalmoplegia
- <em>POLG</em>-Related Disorders
- 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 novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review
- Advances in the Applications of Bioinformatics and Chemoinformatics
- An unusually mild case of biotin-thiamine-responsive basal ganglia disease
- Bing Neel syndrome presenting as isolated cranial nerve palsies - a case report
- Case report: Clinical profile, molecular genetics, and neuroimaging findings presenting in a patient with Kearns-Sayre syndrome associated with inherited thrombophilia
- Clinical and genetic analysis of a patient with HUPRA syndrome due to missense variants of SARS2 gene and literature review
- Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy
- Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review
- Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders
- 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 with progressive scoliosis
- Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum
- Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics
- Kearns-Sayre Syndrome
- Lateral micro-orbitotomy as the technique of choice for orbital pseudotumor in IgG4-RD. Case report and review of the literature
- Living with chronic progressive external ophthalmoplegia alongside cataract, peptic ulcer disease, diabetes and hypertension in Ghana
- Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review
- Mitochondria and the eye-manifestations of mitochondrial diseases and their management
- Mitochondrial Chronic Progressive External Ophthalmoplegia
- Mitochondrial DNA 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
- Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease
- Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome
- Orbital mass as the presenting symptom of diffuse large B-cell lymphoma causing spontaneous tumor lysis syndrome and rapid multisystem organ failure
- Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis
- Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report
- Primary Human Herpes Virus-6 Causing Recalcitrant Pyrexia after Pilocytic Astrocytoma Resection
- Progressive external ophthalmoplegia - A case report
- Propofol and Kearns-Sayre Syndrome: An idiographic approach
- Ptosis Correction
- Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion
- Single Large-Scale Mitochondrial DNA Deletion Syndromes
- Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report
- Synthetic lethal mutants in <em>Escherichia coli</em> define pathways necessary for survival with RNase H deficiency
- 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
- The Y831C Mutation of the <em>POLG</em> Gene in Dementia
- Videographic analysis of blink dynamics in patients with chronic progressive external ophthalmoplegia, myogenic ptosis, and facial nerve palsy using smartphone camera: A comparative analysis