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Neurological Sciences

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01-09-2019 | Dementia | Letter to the Editor

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)

Authors: Alessia Catania, Lorenzo Peverelli, Silvia Tabano, Daniele Ghezzi, Costanza Lamperti

Published in: Neurological Sciences | Issue 9/2019

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Dear Sir, …

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Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ (2015 Apr) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain. 138(Pt 4):845–861. https://doi.org/10.1093/brain/awv010 CrossRefPubMedPubMedCentral

Zheng W, Yan Z, He R, Huang Y, Lin A, Huang W, Su Y, Li S, Zhang VW, Xie H (2018 Oct 20) Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE. BMC Neurol 18(1):174. https://doi.org/10.1186/s12883-018-1177-2. CrossRefPubMedPubMedCentral

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Title: 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)
Authors: Alessia Catania
Lorenzo Peverelli
Silvia Tabano
Daniele Ghezzi
Costanza Lamperti
Publication date: 01-09-2019
Publisher: Springer International Publishing
Keywords: Dementia
Dementia
Narcolepsy
Published in: Neurological Sciences / Issue 9/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-03859-7

At a glance: The STEP trials

Springer Medicine

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)

Excerpt

At a glance: The STEP trials

Springer Medicine

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