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Mutation testing in Charcot-Marie-Tooth neuropathy.

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...

Abnormal Schwann cell-axon interactions in CMT neuropathies. The effects of m...

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...

Development of early postnatal peripheral nerve abnormalities in Trembler-J a...

Robertson(A M),Huxley(C),King(R H),Thomas(... J Anat 1999-12-14

...PMP22) are associated with peripheral neuropathy in mice and humans. Although PMP22 is strongly expressed in peripheral ...

Localization and functional roles of PMP22 in peripheral nerves of P0-deficie...

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...

Myelin uncompaction in Charcot-Marie-Tooth neuropathy type 1A with a point mu...

Fabrizi(G M),Cavallaro(T),Taioli(F),Orrico... Neurology 1999-10-29

...PMP22 and the gene of the major structural myelin protein zero (P0).,Nucleotide 159 of PMP22 showed an A-to-T heterozygo...

Embryonic expression of epithelial membrane protein 1 in early neurons.

Wulf(P),Suter(U) Brain Res Dev Brain Res 1999-11-23

...PMP22) family. This family is best known for the crucial contribution of PMP22 to the development and maintenance of the...

A novel type of hereditary motor and sensory neuropathy characterized by a mi...

De Jonghe(P),Timmerman(V),Nelis(E),De Vrie... Arch Neurol 1999-10-28

...PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus...

Expression of myelin proteins in the adult heterozygous Trembler mouse.

Vallat(J M),Sindou(P),Garbay(B),Preux(P M)... Acta Neuropathol 1999-10-20

...PMP22 immunolabeling. This pointed to an involvement of PMP22 in the structure of myelin sheaths.

Molecular evolution of the CMT1A-REP region: a human- and chimpanzee-specific...

Keller(M P),Seifried(B A),Chance(P F) Mol Biol Evol 1999-09-29

...PMP22). Unequal meiotic crossover mediated by misalignment of proximal and distal copies of the CMT1A-REP in humans lead...

PMP22 accumulation in aggresomes: implications for CMT1A pathology.

Notterpek(L),Ryan(M C),Tobler(A R),Shooter... Neurobiol Dis 1999-12-06

...PMP22) is a 22-kDa glycoprotein mainly expressed by Schwann cells (SCs). Duplication or deletion of the PMP22 gene locus...

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