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Khan(Wahab A),Rogan(Peter K),Knoll(Joan Hm... Mol Cytogenet 2014-12-18

...PMP22:IVS3, ADORA2B:IVS1, ACR) and were not unique to known imprinted domains or specific chromosomes. DNA probes within...

Li(Xiaobo),Zi(Xiaohong),Li(Lin),Zhan(Yajin... Neural Regen Res 2014-10-22

...PMP22 gene duplication; one patient from the hereditary neuropathy with liability to pressure palsies family had a PMP22...

Fledrich(Robert),Stassart(Ruth M),Klink(Ax... Nat Med 2014-11-03

Duplication of the gene encoding the peripheral myelin protein of 22 kDa (PMP22) underlies the most common inherited neu...

Cho(Sun-Mi),Hong(Bo Young),Kim(Yoonjung),L... Case Rep Genet 2014-12-16

...PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, althou...

Kumar(Chundi Vinay),Swetha(Rayapadi G),Anb... Adv Bioinformatics 2014-11-17

The T118M mutation in PMP22 gene is associated with Charcot Marie Tooth, type 1A (CMT1A). CMT1A is a form of Charcot-Mar...

Li(Jun) Neural Regen Res 2014-11-06

...PMP22 gene. PMP22 deficiency disrupts myelin junctions (such as tight junction and adherens junctions), leading to abnor...

van Paassen(Barbara W),van der Kooi(Anneke... Orphanet J Rare Dis 2014-11-12

PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) P...

Simske(Jeffrey S) Tissue Barriers 2014-06-24

...PMP22/EMP/claudin/voltage-gated calcium channel γ subunit family, including nsy-4, and vab-9, while highly divergent at ...

Koros(Christos),Evangelopoulos(Maria-Eleft... Case Rep Neurol Med 2014-01-23

...PMP22, the target protein in CMT1A, might influence the immunological self-tolerance to CNS proteins via molecular mimic...

Sivera(Rafael),Sevilla(Teresa),Vílchez(Jua... Neurology 2013-12-16

...PMP22 gene) was the most frequent genetic diagnosis (50.4%), followed by mutations in the GJB1 gene (15.3%), and in the ...