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Lee(Yi-Chung),Soong(Bing-Wen),Lin(Kon-Ping... J Neurol Sci 2004-06-04

...PMP22) duplication (CMT1A), myelin protein zero gene (MPZ) mutations may account for a certain portion of CMT1 patients ...

Estivill(Xavier),Cheung(Joseph),Pujana(Mig... Hum Mol Genet 2003-02-03

...PMP22 gene were ambiguously mapped, but 93% of the SNPs at LCRs mapped on both LCR copies, indicating that they are in f...

Hattori(Naoki),Yamamoto(Masahiko),Yoshihar... Brain 2003-03-20

...PMP22 duplication, MPZ mutations or Cx32 mutations. PMP22 duplication caused mainly demyelinating phenotypes with slowed...

Fortun(Jenny),Dunn(William A),Joy(Shale),L... J Neurosci 2003-12-11

...PMP22 must be tightly regulated. Therefore, we speculate that mutant, misfolded PMP22 might overload the proteasome and ...

Saifi(Gulam Mustafa),Szigeti(Kinga),Snipes... J Investig Med 2003-11-18

...PMP22 gene product, the disease-associated gene in the duplication cases, could thus be avoided. We also discuss alterna...

Vital(Anne),Vital(Claude),Lagueny(Alain),F... Muscle Nerve 2003-09-26

...PMP22 gene duplication (CMT type 1A), and with evidence of an inflammatory demyelinating process superimposed on the cou...

Christophe-Hobertus(C),Szpirer(C),Guyon(R)... BMC Genomics 2003-10-31

...PMP22)/ epithelial membrane proteins (EMPs) and Claudins, defining the encoded protein as representative of the existenc...

Melcangi(R C),Ballabio(M),Cavarretta(I),Go... J Steroid Biochem Mol Biol 2003-10-29

...PMP22 needs the GABA(A) receptor. Because Po and PMP22 play an important physiological role for the maintenance of the m...

van Dartel(Maaike),Leenstra(Sieger),Troost... Cancer Genet Cytogenet 2003-04-17

...PMP22 and D17S1843 in 17p11.2. From the high-level amplifications we conclude that at least one, but possibly more, puta...

Huehne(Kathrin),Benes(Vladimir),Thiel(Chri... Hum Mutat 2003-01-29

...PMP22) gene. Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (...