Associated Papers
Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.
Yuan JH et al.
International Journal of Molecular Sciences, 2026
Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).
Parissis D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.
Yuan JH et al.
Frontiers in Neurology, 2022
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
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Expanded genetic insight and clinical experience of DNMT1-complex disorder.
Bi H et al.
Neurology. Genetics, 2020
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
Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE.
Yuan J et al.
Journal of the Peripheral Nervous System : Jpns, 2013
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