Li(Li-Xi),Zhao(Shao-Yun),Liu(Zhi-Jun),Ni(W... Oncotarget 0000-00-00

...PMP22 duplication/deletion analysis to screen causative genes in 22 Chinese CMT families. The novel variants detected by...

Sociali(Giovanna),Visigalli(Davide),Prukop... Neurobiol Dis 0000-00-00

...PMP22-mediated overexpression of the P2X7 purinoceptor. The purpose of this study was to investigate the tolerability an...

Uzdensky(Anatoly),Demyanenko(Svetlana),Fed... Mol Neurobiol 0000-00-00

...PMP22); cytoskeleton (neurofilament 68, neurofilament-M, doublecortin); and other proteins (LRP1, prion protein, β-amylo...

Jouaud(Maxime),Gonnaud(Pierre-Marie),Richa... Neuromuscul Disord 0000-00-00

...PMP22), and early growth response 2 (EGR2). We present a patient with two compound mutations in PMP22: a point mutation ...

Lopez-Anido(Camila),Poitelon(Yannick),Gopi... Hum Mol Genet 0000-00-00

...Pmp22 overexpression mitigates several aspects of a CMT1A-related phenotype. Mechanistic studies of Pmp22 regulation ide...

Werheid(Friederike),Azzedine(Hamid),Zweren... Brain Behav 0000-00-00

...PMP22,MPZ,MFN2), and autonomous nervous system involvement in 18% (PMP22,MPZ, LITAF,MFN2). RLS and respiratory insuffici...

Piscosquito(Giuseppe),Saveri(Paola),Magri(... J Peripher Nerv Syst 0000-00-00

...PMP22 duplication, GJB1 and MPZ mutations, for SH3TC2 mutations. Twelve patients (11 index cases) had CMT4C as they carr...

Donadio(V),Liguori(R),Incensi(A),Chiaro(G)... Auton Neurosci 0000-00-00

...PMP22 gene who complained of chronic orthostatic hypotension due to a dopamine-β-hydroxylase deficiency confirmed by gen...

Brandt(Alexander U),Meinert-Bohn(Elena),Ri... PLoS One 0000-00-00

The PMP22 gene encodes a protein integral to peripheral myelin. Its deletion leads to hereditary neuropathy with liabili...

Yang(Xiaofan),Chen(Jianghai),Xue(Pingping)... Biotechnol Lett 0000-00-00

...PMP22) mRNA expression was found. Immunofluorescence and Western blot showed the similar results.,DHT in combination wit...