• <em>POLG</em>-Related Disorders
• A case of hereditary sensory and autonomic neuropathy type 1E with frontal lobe dysfunction as an initial symptom
• A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea
• Autosomal dominant optic atrophy with <em>OPA1</em> gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort
• Clinical and serological insights into paraneoplastic brachial amyotrophic diplegia
• Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report
• I can't hear you, you said I had what?: A case report and literature review
• Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease
• Infantile-Onset Spinocerebellar Ataxia
• Infantile-Onset Spinocerebellar Ataxia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
• Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report
• Mitochondrial DNA Deletion Syndromes
• Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases
• Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
• MOG-IgG in NMO and related disorders: a multicenter study of 50 patients. Part 3: Brainstem involvement - frequency, presentation and outcome
• Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
• Opthalmoplegia externa progressiva. A clinical and morphological study (author's transl)
• Resolved External Ophthalmoplegia and Hearing Loss in Wernicke's Encephalopathy With Thiamine Replacement
• Reversal of Stroke-Like Episodes With L-Arginine and Meticulous Perioperative Management of Renal Transplantation in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. Case Report
• Single Large-Scale Mitochondrial DNA Deletion Syndromes
• Spinocerebellar Ataxia Type 38
• Wernicke encephalopathy hearing loss and palinacousis