Associated Papers
Functional and Epigenomic Consequences of DNMT1 Variants in Inherited Neurological Disorders.
Yuan JH et al.
International Journal of Molecular Sciences, 2026
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.
Gorcenco S et al.
Journal of Neurology, 2024
37787810 (PubMed )
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Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
Davis KN et al.
Human Molecular Genetics, 2023
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
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Maresca A et al.
Human Molecular Genetics, 2020
Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.
Postiglione E et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2020
Modifiers and Readers of DNA Modifications and Their Impact on Genome Structure, Expression, and Stability in Disease.
Ludwig AK et al.
Frontiers in Genetics, 2016
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
Maresca A et al.
Frontiers in Genetics, 2015
A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
Pedroso JL et al.
Sleep, 2013
Genetic syndromes caused by mutations in epigenetic genes.
Berdasco M et al.
Human Genetics, 2013
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
DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.
Klein CJ et al.
Neurology, 2013
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
Winkelmann J et al.
Human Molecular Genetics, 2012
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