文献库搜索 | GeneLibs

Sander(S),Ouvrier(R A),McLeod(J G),Nichols... J Neurol Neurosurg Psychiat... 2000-06-05

...PMP22), myelin protein zero (P0), or myelin associated glycoprotein (MAG). These proteins share the HNK-1 epitope which ...

Keller(M P),Chance(P F) Semin Neurol 2000-03-30

...PMP22) gene. CMT1 B result from point mutations in the myelin protein zero (Po or MPZ) gene. The molecular defect in CMT...

Hughes(R A),Hadden(R D),Gregson(N A),Smith... J Neuroimmunol 2000-03-09

...PMP22, are sufficient to induce experimental autoimmune neuritis. Activated T cells are present in the circulation in th...

Numakura(C),Lin(C),Oka(N),Akiguchi(I),Haya... Ann Neurol 2000-02-16

...PMP22) and an Arg157Gly mutation of PMP22. Hemizygous mutation of PMP22 should be considered in patients with autosomal ...

Müller(H W) Glia 2000-02-17

It has been demonstrated that abnormal levels of PMP22 expression due to altered gene dosage in CMT1A neuropathy alters ...

Hanemann(C O),D'Urso(D),Gabreëls-Festen(A ... Brain 2000-06-06

...PMP22 point mutations. In these patients, in contrast to findings in patients with PMP22 duplication, PMP22 partially ac...

Ohnishi(A),Yamamoto(T),Izawa(K),Yamamori(S... Acta Neuropathol 2000-05-23

The Ser149Arg mutation of peripheral myelin protein 22 (PMP22) was found in a 19-year-old woman with a sporadic case of ...

LaPoint(S F),Powers(J M),Woodruff(J M),Mac... Acta Neuropathol 2000-03-08

...PMP22, or Connexin 32 genes. Similar and previously reported cases are discussed, as well as other onion bulb-forming en...

Kamholz(J),Menichella(D),Jani(A),Garbern(J... Brain 2000-02-25

...PMP22) gene, protein zero (P0) gene, early growth response gene 2 (EGR-2) and connexin-32 gene, which are expressed in S...

Ruiz-Ponte(C),Loidi(L),Vega(A),Carracedo(A... Clin Chem 2000-10-25

...PMP22 gene was amplified to determine gene dosage for heterozygous samples. The presence of two alleles was used to indi...