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Gabreëls-Festen(A),Wetering(R V) Ann N Y Acad Sci 1999-12-21

...PMP22 mutational mechanisms. Duplication of chromosome 17p11.2, causing an overexpression of the PMP22 gene, results in ...

Nicholson(G A) Ann N Y Acad Sci 1999-12-21

...PMP22) and myelin protein zero (P0) point mutations. A cutoff value for median motor conduction velocity of less than 50...

Sahenk(Z) Ann N Y Acad Sci 1999-12-21

...PMP22 duplications or deletions and point mutations, as well as Cx32 point mutations were grafted into cut ends of the s...

Naef(R),Suter(U) Neurobiol Dis 1999-05-06

...PMP22). To study the mechanisms by which these mutations cause the CMT pathology, we transiently transfected COS7 and Sc...

Tobler(A R),Notterpek(L),Naef(R),Taylor(V)... J Neurosci 1999-04-13

...PMP22 forms a heterodimer with the wt-PMP22. This interaction causes a fraction of the wt-PMP22 to be retained with TrJ-...

Carenini(S),Neuberg(D),Schachner(M),Suter(... Glia 1999-12-15

...PMP22 (P0(-)/PMP22(-) double mutants) we investigated the functional role(s) of PMP22 in P0(-) mice. In 4-week-old doubl...

Hagedorn(L),Suter(U),Sommer(L) Development 1999-10-28

...PMP22 show severe defects in myelination. Recent expression studies suggest a role of P0 and PMP22 not only in myelinati...

Wulf(P),Bernhardt(R R),Suter(U) J Neurosci Res 1999-09-09

...PMP22) is a component of compact myelin of the peripheral nervous system (PNS). Mutations affecting PMP22 are associated...

Sancho(S),Magyar(J P),Aguzzi(A),Suter1(U) Brain 1999-09-07

...PMP22 is sensitive to gene dosage. Homozygous PMP22 knockout (PMP22(0/0)) mice and transgenic animals carrying additiona...

Simonati(A),Fabrizi(G M),Pasquinelli(A),Ta... Neuromuscul Disord 1999-09-01

...PMP22. Codon 72 mutations of PMP22 are associated with different phenotypes encompassing the Dejerine-Sottas syndrome an...