Associated Papers
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
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
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