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Demyanenko(S V),Panchenko(S N),Uzdensky(A ... Biochemistry (Mosc) 2016-08-24

...PMP22); intercellular interactions (N-cadherin); synaptic transmission (glutamate decarboxylase, tryptophan hydroxylase,...

Høyer(Helle),Busk(Øyvind L),Holla(Øystein ... Tidsskr Nor Laegeforen 2016-04-21

...PMP22, 96 samples were analysed by NGS with physical enrichment of 52 hereditary peripheral neuropathy genes.,A genetic ...

Fernández-Ramos(Joaquín A),López-Laso(Edua... Rev Neurol 2016-09-20

...PMP22; two cases were diagnosed of hereditary neuropathy with liability to pressure palsies, one with a point mutation i...

Liu(Hui),Cao(Hui-qin),Ta(Jin-bao),Zhang(We... Oncol Res 2016-07-28

...PMP22) in the development of chronic myeloid leukemia (CML). The level of PMP22 expression in CD34(+) cells isolated fro...

Hong(Young Bin),Joo(Jaesoon),Hyun(Young Se... PLoS Genet 2016-07-19

...PMP22 duplication. Sural nerve biopsy showed onion bulbs and degenerating fibers with various myelin abnormalities. The ...

Choi(Hyoung Won),Kuntz(Nancy L) Pediatr Neurol Briefs 2016-03-02

...PMP22 gene deletion.

Scurry(Alexandra N),Heredia(Dante J),Feng(... J Neuropathol Exp Neurol 2016-07-21

Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, C...

Karadima(Georgia),Koutsis(Georgios),Raftop... J Peripher Nerv Syst 2016-05-26

...PMP22 micromutation frequency was 2.2%. Within mutation-positive patients, the common deletion represented 95.7% and PMP...

Schlebach(Jonathan P),Narayan(Malathi),Alf... J Am Chem Soc 2016-05-23

...PMP22), the intracellular misfolding of which is known to cause peripheral neuropathies associated with Charcot-Marie-To...

Chrestian(Nicolas),McMillan(Hugh),Poulin(C... Neuromuscul Disord 2016-05-09

...PMP22 gene deletion and reviewed the published reports of HNPP in children and compared our data with the reports from t...