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De Jonghe(P),Timmerman(V),Nelis(E),Martin(... J Peripher Nerv Syst 2000-09-26

...PMP22) and myelin protein zero (MPZ) for the autosomal dominant form and connexin 32 (Cx32) for the X-linked dominant va...

Wilke(K),Duman(B),Horst(J) Hum Mutat 2000-11-21

...PMP22 gene located within the 1.5 Mb region. The genomic copy number of the test locus was precisely measured, and the p...

Zielasek(J),Martini(R),Suter(U),Toyka(K V) Muscle Nerve 2000-05-19

...Pmp22-/-), and Trembler mice, which carry a point mutation of Pmp22. By electromyography (EMG), we found irregular high-...

Xu(W),Manichella(D),Jiang(H),Vallat(J M),L... J Neurosci Res 2000-09-06

...PMP22 expression is down-regulated, MAG and PLP expression are up-regulated, and MBP expression is unchanged. As in quak...

Ohnishi(A),Yamamoto(T),Ikeda(M) J UOEH 2000-08-08

...PMP22 gene duplication to re-evaluate such relationships as are revealed in hereditary motor sensory neuropathy, type 1 ...

Désarnaud(F),Bidichandani(S),Patel(P I),Ba... Brain Res 2000-07-21

...PMP22) or the protein zero (P(0)) genes. GLUC stimulated the activity of the P(0) promoter and the PMP22 promoters 1 and...

Niemann(S),Sereda(M W),Suter(U),Griffiths(... J Neurosci 2000-06-15

We have generated previously transgenic rats that overexpress peripheral myelin protein 22 (PMP22) in Schwann cells. In ...

Sabéran-Djoneidi(D),Sanguedolce(V),Assouli... Gene 2000-07-06

PMP22, one of the major components of myelin, is overexpressed in Charcot-Marie-Tooth type 1A (CMT1A) patients. In an at...

Isaacs(A M),Davies(K E),Hunter(A J),Nolan(... Hum Mol Genet 2000-10-27

...Pmp22). Sequence analysis revealed novel point mutations in Pmp22 in both lines. The first mutation, H12R, alters the sa...

Kitamura(K),Uyemura(K),Shibuya(K),Sakamoto... J Neurochem 2000-08-17

...PMP22 glycopeptides. The labeled PASII/PMP22 glycopeptides were isolated by HPLC and were digested further with glycopep...