Literature DB >> 7898717

Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia.

A Wright1, P J Dyck.   

Abstract

We report a kindred with autosomal dominantly inherited sensory neuropathy associated with sensorineural hearing loss and early-onset dementia. This kindred provides further evidence of the clinical variability among kindreds with hereditary sensory neuropathy, suggesting genetic heterogeneity.

Entities:  

Mesh：

Year:  1995        PMID： 7898717     DOI： 10.1212/wnl.45.3.560

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

Review 1.  Hearing and music in dementia.

Authors:  Julene K Johnson; Maggie L Chow
Journal:  Handb Clin Neurol       Date:  2015

2.  Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

Authors:  Juliane Winkelmann; Ling Lin; Barbara Schormair; Birgitte R Kornum; Juliette Faraco; Giuseppe Plazzi; Atle Melberg; Ferdinando Cornelio; Alexander E Urban; Fabio Pizza; Francesca Poli; Fabian Grubert; Thomas Wieland; Elisabeth Graf; Joachim Hallmayer; Tim M Strom; Emmanuel Mignot
Journal:  Hum Mol Genet       Date:  2012-02-09       Impact factor: 6.150

Review 3.  Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk.

Authors:  Jenna A Fernandez; Mrinal M Patnaik
Journal:  Curr Hematol Malig Rep       Date:  2022-06-02       Impact factor: 4.213

4.  Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E.

Authors:  Zhifu Sun; Yanhong Wu; Tamas Ordog; Saurabh Baheti; Jinfu Nie; Xiaohui Duan; Kaori Hojo; Jean-Pierre Kocher; Peter J Dyck; Christopher J Klein
Journal:  Epigenetics       Date:  2014-07-07       Impact factor: 4.528

5.  DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

Authors:  Christopher J Klein; Tom Bird; Nilufer Ertekin-Taner; Sarah Lincoln; Robert Hjorth; Yanhong Wu; John Kwok; Georges Mer; Peter J Dyck; Garth A Nicholson
Journal:  Neurology       Date:  2013-01-30       Impact factor: 9.910

6.  Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

Authors:  Christopher J Klein; Maria-Victoria Botuyan; Yanhong Wu; Christopher J Ward; Garth A Nicholson; Simon Hammans; Kaori Hojo; Hiromitch Yamanishi; Adam R Karpf; Douglas C Wallace; Mariella Simon; Cecilie Lander; Lisa A Boardman; Julie M Cunningham; Glenn E Smith; William J Litchy; Benjamin Boes; Elizabeth J Atkinson; Sumit Middha; P James B Dyck; Joseph E Parisi; Georges Mer; David I Smith; Peter J Dyck
Journal:  Nat Genet       Date:  2011-05-01       Impact factor: 38.330

Review 7.  Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.

Authors:  Wanda S Layman; Jian Zuo
Journal:  Front Cell Neurosci       Date:  2015-01-07       Impact factor: 5.505
  7 in total

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