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  1. No Access

    Article

    Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family

    Charcot-Marie-Tooth disease type 1B (CMT 1B) is caused by mutations in the gene coding for peripheral myelin protein zero (MPZ, P0) that plays a fundamental role in adhesion and compaction of peripheral myelin...

    Alejandro Leal, Corinna Berghoff, Martin Berghoff, Gerardo Del Valle… in Neurogenetics (2003)

  2. Article

    Open Access

    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

    Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht… in neurogenetics (2009)

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  3. Article

    Open Access

    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

    Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. All mendelian patterns of inheritance have been described. We identified a homozygous p.A335V mutation in the MED25 gene i...

    Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht… in neurogenetics (2009)

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