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Liu(Shuyong),Chen(Zhiping) Med Sci Monit 2016-04-15

...PMP22 plasmid was confirmed to have a 305bp PMP22 fragment by EcoRI-XhoI dual digestion. Compared to the control group, ...

Asadchuk(T V),Rumiantseva(N V),Naumchik(I ... Zh Nevrol Psikhiatr Im S S ... 2016-04-21

...PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counsellin...

Oka(Nobuyuki) Brain Nerve 2016-05-02

...PMP22 duplication in CMT1A induces numerous large onion bulb lesions (OB). Compared to chronic inflammatory demyelinatin...

Iijima(Masahiro) Brain Nerve 2016-05-02

...PMP22 duplication) is the most frequent subtype, followed by CMTX1, HNPP (hereditary neuropathy with liability to pressu...

Kramer(Mark),Ly(Amy),Li(Jun) Am J Orthop (Belle Mead NJ) 2016-09-23

...PMP22 gene. HNPP is clinically characterized by asymmetric focal sensory loss and muscle weakness. Reports of HNPP have ...

Kim(Sung Min),Lee(Jinho),Yoon(Bo Ram),Kim(... J Hum Genet 2016-04-01

...PMP22. This study reports a woman with a family history of CMT1A due to PMP22 duplication. However, she presented with a...

Zhang(J),Suh(Y),Choi(Y M),Ahn(J),Davis(M E... Animal 2015-06-05

...PMP22) - were selected for study because they are relatively highly expressed in adipose tissue compared with muscle, he...

Potulska-Chromik(Anna),Sinkiewicz-Darol(El... Muscle Nerve 2015-02-18

...PMP22 and onset of symptoms before age 18 years. Direct sequencing of the LITAF (lipopolysaccharide-induced tumor necros...

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...