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Smit(Liesbeth S),Roofthooft(Daniella),van ... Neuromuscul Disord 2008-05-20

...PMP22, and MTMR2. Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.

Da(Yuwei),Jia(Jianping) Neurosci Lett 2008-01-04

...PMP22 antibodies in the CMTX1 family varied with sex. Anti-PMP22 antibodies were found in all male patients but not in a...

Muglia(Maria),Patitucci(Alessandra),Rizzi(... J Neurol Sci 2008-02-14

...PMP22 gene. Point mutations in the PMP22 gene responsible for HNPP phenotypes are rare. We investigated a 17-years-old g...

Makowska(A),Pritchard(J),Sanvito(L),Gregso... J Neurol Neurosurg Psychiat... 2008-05-30

...PMP22, P0 and P2.,We investigated immunoreactivity to P0, P2 and PMP22 proteins in 37 patients with GBS and 32 healthy c...

Hung(Chia-Cheng),Lee(Chien-Nan),Lin(Chia-Y... Electrophoresis 2008-04-17

...PMP22 gene. We compared the methods for efficiency, sensitivity, and specificity. We determined the gene dosage of the P...

Caruso(Donatella),Scurati(Samuele),Roglio(... J Mol Neurosci 2008-06-20

...PMP22(tg) rats; i.e., an experimental model of CMT1A) and of the corresponding wild-type littermates. We observed that, ...

Liu(Fangfang),Ng(Seng Kah),Lu(Yanfen),Low(... J Cell Biol 2008-02-07

...PMP22/MPV17-related membrane protein with dual functions in WB biogenesis. WSC localizes to large peroxisome membranes w...

Magnaghi(Valerio),Ballabio(Marinella),Camo... Mol Cell Neurosci 2008-04-10

...PMP22 and P0. Moreover, the number of small myelinated fibers and small neurons of the lumbar dorsal root ganglia is hig...

Chen(Shyue-Ru),Lin(Kon-Ping),Kuo(Hung-Chou... Clin Neurol Neurosurg 2008-08-14

...pmp22 gene duplication (CMT1A) and deletion (HNPP) showed a sensitivity of 100.00% (53/53) and 100.00% (12/12), respecti...

Hernández-Zamora(Edgar),de la Luz Arenas-S... Electrophoresis 2008-07-31

...PMP22) takes place. The severity of the disease varies among patients, even within the same family, from almost no sympt...