Associated Papers
Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.
Yuan JH et al.
International Journal of Molecular Sciences, 2026
Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.
Abenza-Abildúa MJ et al.
Acta Neurologica Belgica, 2025
[Hereditary sensory and autonomic neuropathy 1E showing hyperreflexia: a case report].
Hayashida H et al.
Rinsho Shinkeigaku = Clinical Neurology, 2024
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Kikuchi JK et al.
Journal of Molecular Neuroscience : Mn, 2021
Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Bi H et al.
Neurology. Genetics, 2020
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Baets J et al.
Brain : a Journal of Neurology, 2015
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
Maresca A et al.
Frontiers in Genetics, 2015
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK et al.
Brain : a Journal of Neurology, 2014
[A case of hereditary sensory autonomic neuropathy type II with late onset].
Shimoya K et al.
Rinsho Shinkeigaku = Clinical Neurology, 1999
[A sporadic case of hereditary sensory neuropathy with tonic pupil, ichthyosis vulgaris, deafness and atypical retinitis pigmentosa (author's transl)].
Saito T et al.
Rinsho Shinkeigaku = Clinical Neurology, 1980
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