文献库搜索 | GeneLibs

Sander(S),Nicholson(G A),Ouvrier(R A),McLe... Muscle Nerve 1998-02-19

...PMP22 duplication with biopsies of CMTX1 patients with proven Connexin32 mutations. In CMT1A nerve biopsies we found a s...

Huxley(C),Passage(E),Robertson(A M),Youl(B... Hum Mol Genet 1998-04-16

...PMP22). Over-expression of this gene leads to a hypomyelinating/demyelinating neuropathy and to severely reduced nerve c...

Sago(H),Kim(H S),Goldberg(J D),Chung(J H),... Hum Genet 1998-01-08

...Pmp22) is a model of human Charcot-Marie-Tooth type 1A disease. Mathematical models predict our experimental results ass...

Poropat(R A),Nicholson(G A) Clin Chem 1998-04-23

...PMP22 gene and EW401) and from within a reference region (NF1 gene), we tested 50 CMT1A, 30 HNPP, and 50 unaffected indi...

Ikegami(T),Ikeda(H),Aoyama(M),Matsuki(T),I... Hum Genet 1998-04-24

Peripheral myelin protein 22 (PMP22), a membrane glycoprotein, plays a significant role in the formation and/or maintena...

Hanemann(C O),Rosenbaum(C),Kupfer(S),Wosch... Glia 1998-12-23

...PMP22 is by far the most common cause of the hereditary demyelinating neuropathy CMT1A. A role for PMP22 in cell growth ...

Ben-Porath(I),Kozak(C A),Benvenisty(N) Genomics 1998-08-03

...PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved ...

Fabrizi(G M),Simonati(A),Morbin(M),Cavalla... Muscle Nerve 1998-06-25

...PMP22 overexpression. Yet none of the 20 patients examined had immunohistochemical evidence of altered PMP22 expression....

Erdem(S),Mendell(J R),Sahenk(Z) J Neuropathol Exp Neurol 1998-06-25

...PMP22 duplications and deletions. In frozen sections, apoptotic nuclei were detected using the TUNEL method. In adjacent...

Young(P),Stögbauer(F),Wiebusch(H),Löfgren(... Neurology 1998-04-17

...PMP22). We developed a rapid and simple quantitative PCR assay for the detection of the CMT1A duplication or the HNPP de...