Literature DB >> 11073364

Autosomal recessive hereditary motor and sensory neuropathy.

P K Thomas1.   

Abstract

Recent years have witnessed considerable advances in the nosography and molecular genetics of the hereditary motor and sensory neuropathies of autosomal dominant and X-linked recessive inheritance. Those with autosomal recessive inheritance are in general much less common, although in some communities where consanguineous marriages are prevalent they represent the most frequently encountered forms. They are now beginning to be characterized both clinically and genetically.

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Year:  2000        PMID: 11073364     DOI: 10.1097/00019052-200010000-00010

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  6 in total

1.  Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

Authors:  Dana Gabrikova; Martin Mistrik; Jarmila Bernasovska; Alexandra Bozikova; Regina Behulova; Iveta Tothova; Sona Macekova
Journal:  J Appl Genet       Date:  2013-08-31       Impact factor: 3.240

2.  A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

Authors:  T Rogers; D Chandler; D Angelicheva; P K Thomas; B Youl; I Tournev; V Gergelcheva; L Kalaydjieva
Journal:  Am J Hum Genet       Date:  2000-07-27       Impact factor: 11.025

3.  Novel GDAP1 mutation in a Turkish family with CMT2K (CMT2K with novel GDAP1 mutation).

Authors:  Nilufer Sahin-Calapoglu; Meliha Tan; Mustafa Soyoz; Mustafa Calapoglu; Nurten Ozcelik
Journal:  Neuromolecular Med       Date:  2009-04-19       Impact factor: 3.843

4.  Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Authors:  Jan Senderek; Carsten Bergmann; Claudia Stendel; Jutta Kirfel; Nathalie Verpoorten; Peter De Jonghe; Vincent Timmerman; Roman Chrast; Mark H G Verheijen; Greg Lemke; Esra Battaloglu; Yesim Parman; Sevim Erdem; Ersin Tan; Haluk Topaloglu; Andreas Hahn; Wolfgang Müller-Felber; Nicolò Rizzuto; Gian Maria Fabrizi; Manfred Stuhrmann; Sabine Rudnik-Schöneborn; Stephan Züchner; J Michael Schröder; Eckhard Buchheim; Volker Straub; Jörg Klepper; Kathrin Huehne; Bernd Rautenstrauss; Reinhard Büttner; Eva Nelis; Klaus Zerres
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

5.  A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H.

Authors:  Henry Houlden; Simon Hammans; Haider Katifi; Mary M Reilly
Journal:  Neurology       Date:  2009-02-17       Impact factor: 9.910

6.  Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.

Authors:  Meiyan Chen; Jing Wu; Ning Liang; Lihui Tang; Yanhua Chen; Huishuang Chen; Wei Wei; Tianying Wei; Hui Huang; Xin Yi; Ming Qi
Journal:  Genomics Proteomics Bioinformatics       Date:  2014-10-28       Impact factor: 7.691

  6 in total

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