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Kelly(John J) Rev Neurol Dis 2006-02-16

...PMP22 repeat defect characteristic of Charcot-Marie-Tooth disease. Endoscopy revealed that the patient had Osler-Weber-R...

Berger(Philipp),Niemann(Axel),Suter(Ueli) Glia 2006-10-02

...PMP22, P0/MPZ, Cx32/GJB1, and periaxin. A second group contains the regulators of myelin gene transcription EGR2/Krox20 ...

Ohsawa(Yutaka),Murakami(Tatsufumi),Miyazak... J Neurol Sci 2006-11-03

...PMP22 cDNA as a probe. As two alternative PMP22 transcripts have been reported and since exon 1A-containing transcripts ...

Meyer zu Hörste(Gerd),Prukop(Thomas),Nave(... J Mol Neurosci 2006-06-27

...PMP22). Increased PMP22 gene dosage results in demyelination, secondary axonal loss, and neurogenic muscle atrophy. Expe...

Magnaghi(Valerio),Ballabio(Marinella),Cons... J Mol Neurosci 2006-06-27

...PMP22]). Moreover, the progesterone (P) metabolite allopregnanolone, acting via the GABAA receptor, can influence PMP22 ...

Nestler(Matthias),Martin(Ulrike),Hortschan... Mol Cell Biochem 2006-12-04

...PMP22 may be involved in the host response against CVB3. Previous investigations showed that Siva interacts with the cyt...

Song(Shujuan),Zhang(Yuanzhi),Chen(Biao),Zh... Genet Med 2006-09-28

...PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients.,The mutation frequency for the Chinese CMT1 is sim...

Pegoraro(Elena),Gavassini(Bruno F),Benedet... Neuromuscul Disord 2006-03-02

...PMP22 gene. Interestingly, the double LMNA/PMP22 mutations carriers showed clinical features more severe than usually se...

Dracheva(Stella),Davis(Kenneth L),Chin(Ben... Neurobiol Dis 2006-04-28

...PMP22, but not MBP and MOBP, was reduced in the hippocampus and anterior cingulate cortex but not in the putamen of pati...

Bellone(E),Balestra(P),Ribizzi(G),Schenone... J Neurol Neurosurg Psychiat... 2006-05-18

...PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G-->C) is reported in an HNPP family. B...