Literature DB >> 30911858

DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).

Alessia Catania1, Lorenzo Peverelli2,3, Silvia Tabano4, Daniele Ghezzi2,4, Costanza Lamperti2.   

Abstract

Entities:  

Year:  2019        PMID： 30911858     DOI： 10.1007/s10072-019-03859-7

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  2 in total

1.  Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day.

Authors:  Antonio Federico
Journal:  Neurol Sci       Date:  2020-03       Impact factor: 3.307

2.  Expanded genetic insight and clinical experience of DNMT1-complex disorder.

Authors:  Hongyan Bi; Kaori Hojo; Masashi Watanabe; Christina Yee; Kiran Maski; Sadaf Saba; Jonathan Graff-Radford; Mary M Machulda; Erik K St Louis; Ilona Spitsyna Humes; Eoin P Flanagan; Stefan Nicolau; David T Jones; Marc C Patterson; Suresh Kotagal; Yael Raz; Zhiyv Niu; Jun Li; Christopher J Klein
Journal:  Neurol Genet       Date:  2020-06-12
  2 in total

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