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Meyer zu Horste(Gerd),Miesbach(Timo A),Mul... Neurobiol Dis 2011-12-23

...PMP22) gene causes the most frequent subform CMT1A. Clinical impairments are determined by the amount of axonal loss. Ax...

Morales(Shawn A),Telander(David),Notterpek... Invest Ophthalmol Vis Sci 2011-09-16

...PMP22 cells was partially reversed through either PMP22 siRNA or by blockade of AKT.,Relative expression of EMP2 or PMP2...

Gess(Burkhard),Jeibmann(Astrid),Schirmache... Muscle Nerve 2011-05-16

Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-...

Abe(Akiko),Numakura(Chikahiko),Kijima(Kazu... J Hum Genet 2011-09-20

...PMP22 duplication, 10 patients with PMP22 mutations, 20 patients with MPZ mutations, eight patients with NEFL mutations,...

Homs(J),Ariza(L),Pagès(G),Udina(E),Navarro... Gene Ther 2011-10-07

...PMP22 myelin proteins, four weeks after transduction of injured sciatic nerves. Importantly, CNTF-transduced mice showed...

Taioli(Federica),Cabrini(Ilaria),Cavallaro... Brain 2011-04-11

...PMP22) encodes an intrinsic membrane protein of compact myelin. Duplication or deletion of PMP22 causes the most common ...

McCorquodale(Donald S),Montenegro(Gladys),... J Neurol 2011-11-15

...PMP22 duplication, which itself causes the demyelinating form CMT1A. Another mutation was a novel in frame deletion, whi...

Makoukji(Joelle),Shackleford(Ghjuvan'Ghjac... J Neurosci 2011-09-13

...PMP22)] in a Schwann cell line. This downregulation is mediated by either LXRα or LXRβ, depending on the promoter contex...

Baets(Jonathan),Deconinck(Tine),De Vriendt... Brain 2011-11-08

...PMP22, MPZ and EGR2 are known to be a typical cause of very early onset hereditary neuropathies. In addition, mutations ...

Jung(Joanna),Coe(Helen),Michalak(Marek) FASEB J 2011-12-27

Peripheral myelin protein 22 (PMP22) and protein 0 (P0) are major peripheral myelin glycoproteins, and mutations in thes...