• <em>DNMT1</em>-Related Disorder
• A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study
• A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient
• A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency
• Ataxia-deafness-retardation syndrome in three sisters
• Autosomal dominant cerebellar ataxia deafness and narcolepsy
• Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration
• Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function
• Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation
• Central nervous system superficial siderosis, headache, and epilepsy
• Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature
• Coenzyme Q-responsive Leigh's encephalopathy in two sisters
• Dementia/ataxia/deafness/myoclonus/retinopathy
• Dementia/ataxia/deafness/myoclonus/retinopathy
• DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
• DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss
• DNMT1-associated sensory neuropathy and cerebellar ataxia: A novel variant and review of genotype-phenotype correlation
• FAMILIAL SYNDROME COMBINING ATAXIA, DEAFNESS AND OLIGOPHRENIA. MYOCARDIAL SCLEROSIS WITH FATAL DEVELOPMENT IN ONE OF THE CHILDREN
• Infantile Refsum's disease: a peroxisomal storage disorder?
• Juvenile Leigh syndrome with protracted course presenting as chronic sensory motor neuropathy, ataxia, deafness and retinitis pigmentosa: a clinicopathological report
• May-white syndrome (myoclonus, ataxia, deafness)
• May-White syndrome(myoclonus, ataxia, deafness)
• Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript
• Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome
• Narcolepsy is a common phenotype in HSAN IE and ADCA-DN
• New roles for renal potassium channels
• Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype
• Wolfram's syndrome presenting as a cerebellar ataxia