Associated Papers
Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype.
Abenza-Abildúa MJ et al.
Acta Neurologica Belgica, 2025
Hummingbird sign in a patient with DNMT1-related disorder.
Tamura M et al.
Neurocase, 2025
DNA methyltransferase 1 modulates mitochondrial function through bridging m5C RNA methylation.
Wang J et al.
Molecular Cell, 2025
An Unusual Presentation of a DNMT1 Mutation: Progressive Supranuclear Palsy Look-Alike Disorder.
Lukić MJ et al.
Movement Disorders Clinical Practice, 2025
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Sossamon J et al.
Cerebellum (london, England), 2025
A systematic review on the contribution of DNA methylation to hearing loss.
Patil V et al.
Clinical Epigenetics, 2024
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
Dratch L et al.
Biology, 2024
First case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with confirmed DMNT1 gene mutation in Spain. Review of the DMNT1 mutation syndromes.
de Miguel-Sanchez CJ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.
Davis KN et al.
Human Molecular Genetics, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 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
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 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
A genome-wide DNA methylation signature for SETD1B-related syndrome.
Krzyzewska IM et al.
Clinical Epigenetics, 2019
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Kang C et al.
Cerebellum (london, England), 2019
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
Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy.
Kernohan KD et al.
Clinical Epigenetics, 2016
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
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
Moghadam KK et al.
Sleep Medicine, 2014
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