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Sun(A-Ping),Tang(Lu),Liao(Qin),Zhang(Hui),... Neural Regen Res 2015-12-22

Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the peripheral myelin protein 22 (PMP22) gene on...

Hoyle(J Chad),Isfort(Michael C),Roggenbuck... Appl Clin Genet 2015-11-03

...PMP22 duplication in CMT patients with demyelinating conduction velocities is still a reasonable strategy. As technology...

Hara(Taichi),Hashimoto(Yukiko),Akuzawa(Tom... Sci Rep 2015-10-19

...PMP22(L16P) and PMP22(G150D), and another ubiquitin ligase, gp78/AMFR, mediates ERAD of PMP22(G150D) as well. We also fo...

Bergamin(Giorgia),Boaretto(Francesca),Bria... Neuromolecular Med 2015-10-15

...PMP22. No mutations were found in GJB1. Two patients showed rearrangements in the PMP22 gene, which is commonly associat...

Mathis(Stéphane),Corcia(Philippe),Tazir(Me... Neuromuscul Disord 2015-01-06

...PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we re...

Maraldi(Tullia),Bertoni(Laura),Riccio(Mass... Cell Tissue Res 2015-04-17

...PMP22) were detected by immunofluorescence and Western blot analysis. Glial proteins were expressed as early as 2 weeks ...

Inglese(James),Dranchak(Patricia),Moran(Jo... ACS Chem Biol 2015-07-13

...Pmp22) gene. Using a Schwann cell line with constitutively high endogenous levels of Pmp22, we obtained allelic insertio...

Magnaghi(Valerio),Castelnovo(Luca Franco),... Biomed Res Int 2015-05-11

...PMP22) expression were observed. Nerve macrophage recruitment decreased and step coordination was improved. The PSL-indu...

Cortés(Hernán),Hernández-Hernández(Óscar),... Rev Neurol 2015-04-07

...PMP22 duplication is necessary for the diagnosis of CMT1A.,To establish a routinary test for detection of the PMP22 gene...

Høyer(Helle),Braathen(Geir J),Busk(Øyvind ... Biomed Res Int 2015-03-12

...PMP22 duplication and one family carried a MPZ duplication (1%). Most mutations were identified not only in known CMT ge...