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 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
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
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
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 novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.
Pedroso JL et al.
Sleep, 2013
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