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Chittoor-Vinod(Vinita G),Lee(Sooyeon),Judg... ASN Neuro 2015-09-03

...PMP22)-associated peripheral neuropathies. Cytosolic aggregates of PMP22, linked with a demyelinating Schwann cell pheno...

Reményi(Viktória),Inczédy-Farkas(Gabriella... Ideggyogy Sz 2015-04-01

...PMP22 and EGR2 genes cause Charcot-Marie-Tooth (CMT) disease type 1. Deletion of the PMP22 gene, results in hereditary n...

Zhan(Yajing),Zi(Xiaohong),Hu(Zhengmao),Pen... Muscle Nerve 2015-08-20

Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22)...

Høyer(Helle),Braathen(Geir J),Eek(Anette K... Biomed Res Int 2015-11-16

...PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charc...

Qi(Faying),Che(Fengyuan) Zhonghua Yi Xue Yi Chuan Xu... 2015-06-16

...PMP22) gene was identified by genetic analysis.,HNPP usually affects areas where nerves are liable to entrapment, and pr...

Tae(Hyun-Jin),Rahman(Md Mahfujur),Park(Byu... Gene Expr Patterns 2015-10-22

...Pmp22), a member of the junction protein family Claudin/EMP/PMP22, contributes to the formation and maintenance of myeli...

DiVincenzo(Christina),Elzinga(Christopher ... Mol Genet Genomic Med 2015-01-23

We report the frequency, positive rate, and type of mutations in 14 genes (PMP22, GJB1, MPZ, MFN2, SH3TC2, GDAP1, NEFL, ...

Liu(Xiaoxuan),Fan(Dongsheng),Song(Shujuan) Zhonghua Nei Ke Za Zhi 2015-11-14

...PMP22 mutation pedigree. In Chinese Han population, the proportion of PMP22 duplication was relatively lower than that i...

Attarian(Shahram),Vallat(Jean-Michel),Magy... Orphanet J Rare Dis 2015-07-20

...PMP22, which induces abnormal Schwann cell differentiation and dysmyelination, eventually leading to axonal suffering th...

Chumakov(Ilya),Milet(Aude),Cholet(Nathalie... Orphanet J Rare Dis 2015-07-20

...Pmp22 transgenic rat model of CMT1A. Their ability to lower Pmp22 mRNA in Schwann cells relative to house-keeping genes ...