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Report of a novel mutation in the PMP22 gene causing an axonal neuropathy.

Gess(Burkhard),Jeibmann(Astrid),Schirmache... Muscle Nerve 2011-05-16

Point mutations in the peripheral myelin protein 22 (PMP22) gene rarely cause the hereditary neuropathies Charcot-Marie-...

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic ...

Choi(Byung-Ok),Kim(Nam Keun),Park(Sun Wha)... Neurogenetics 2011-05-06

...PMP22 have been recently suggested to be associated with CMT1A peripheral neuropathy. As a mechanism of the nonrecurrent...

Inherited demyelinating neuropathies with micromutations of peripheral myelin...

Taioli(Federica),Cabrini(Ilaria),Cavallaro... Brain 2011-04-11

...PMP22) encodes an intrinsic membrane protein of compact myelin. Duplication or deletion of PMP22 causes the most common ...

Effects of an avidin-biotin binding system on Schwann cells attachment, proli...

Feng(Sha),Yan(Zuoqin),Guo(Changan),Chen(Zh... J Biomed Mater Res A 2011-08-15

...PMP22 were up-regulated significantly by biotin rather than aligned scaffolds or avidin. The present study demonstrated ...

Specialization of endoplasmic reticulum chaperones for the folding and functi...

Jung(Joanna),Coe(Helen),Michalak(Marek) FASEB J 2011-12-27

Peripheral myelin protein 22 (PMP22) and protein 0 (P0) are major peripheral myelin glycoproteins, and mutations in thes...

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mu...

Miltenberger-Miltenyi(Gabriel),Schwarzbrau... Eur J Hum Genet 2010-01-13

Duplication within the chromosome 17p11.2 (CMT1Adup), peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) an...

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth d...

Abe(Akiko),Numakura(Chikahiko),Saito(Kayok... J Hum Genet 2010-02-03

...PMP22, MPZ, GJB1, LITAF, EGR2, GDAP1, MTMR2 and PRX in the demyelinating form and negative for MFN2, MPZ, GJB1, HSP27, H...

Rapidly progressive amyotrophic lateral sclerosis in a young patient with her...

Canali(Elena),Chiari(Annalisa),Sola(Patriz... Amyotroph Lateral Scler 2010-08-10

...PMP22 protein in the nervous system might interfere with motor neuron function by impairing myelin formation and exposur...

Charcot-Marie-Tooth type 1A disease caused by a novel Ser112Arg mutation in t...

Kabzińska(D),Sinkiewicz-Darol(E),Hausmanow... J Appl Genet 2010-08-13

Among 57 mutations in the peripheral myelin protein 22 gene (PMP22) identified so far in patients affected by Charcot-Ma...

Rapamycin activates autophagy and improves myelination in explant cultures fr...

Rangaraju(Sunitha),Verrier(Jonathan D),Mad... J Neurosci 2010-09-16

...PMP22. Nutrient deprivation-induced autophagy is able to suppress the formation of PMP22 aggregates in a toxin-induced c...

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