Literature DB >> 19909487

Two families with novel PMP22 point mutations: genotype-phenotype correlation.

Chiara Pisciotta, Fiore Manganelli, Rosa Iodice, Emilia Bellone, Alessandro Geroldi, Nila Volpi, Paola Mandich, Lucio Santoro.   

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Year:  2009        PMID： 19909487     DOI： 10.1111/j.1529-8027.2009.00235.x

Source DB:  PubMed          Journal:  J Peripher Nerv Syst        ISSN： 1085-9489            Impact factor:   3.494


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  3 in total

1.  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 2.  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.  A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

Authors:  Li-Xi Li; Hai-Lin Dong; Bao-Guo Xiao; Zhi-Ying Wu
Journal:  Chin Med J (Engl)       Date:  2017-08-05       Impact factor: 2.628
  3 in total

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