Literature DB >> 16922730

Mutation analysis of the PMP22, MPZ, EGR2, LITAF, and GJB1 genes in Korean patients with Charcot-Marie-Tooth neuropathy type 1.

H-K Park, B J Kim, D H Sung, C-S Ki, J-W Kim.   

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Year:  2006        PMID： 16922730     DOI： 10.1111/j.1399-0004.2006.00669.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

1.  Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.

Authors:  Gladys Montenegro; Eric Powell; Jia Huang; Fiorella Speziani; Yvonne J K Edwards; Gary Beecham; William Hulme; Carly Siskind; Jeffery Vance; Michael Shy; Stephan Züchner
Journal:  Ann Neurol       Date:  2011-01-20       Impact factor: 10.422

2.  Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.

Authors:  Georgios Koutsis; Amelie Pandraud; James M Polke; Nicholas W Wood; Marios Panas; Georgia Karadima; Henry Houlden
Journal:  Brain       Date:  2012-03-01       Impact factor: 13.501

Review 3.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046
  3 in total

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