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Use of multiplex PCR and CE for gene dosage quantification and its biomedical...

Hung(Chia-Cheng),Chien(Shu-Chin),Lin(Chia-... Electrophoresis 2007-10-24

...PMP22, and alpha-globin genes. The reliability of this novel methodology shows that it is a relatively speedy and low-co...

Identification of Alu elements mediating a partial PMP22 deletion.

Matejas(Verena),Huehne(Kathrin),Thiel(Chri... Neurogenetics 2007-03-27

...PMP22) gene. Smaller deletions partially affecting the PMP22 gene are less frequently observed. We identified in a HNPP ...

Animal models of inherited neuropathies.

Meyer Zu Hörste(Gerd),Nave(Klaus-Armin) Curr Opin Neurol 2007-02-22

...Pmp22) transgenic rat model of CMT1A, administration of a progesterone receptor antagonist reduced Pmp22 overexpression,...

A multicenter, randomized, double-blind, placebo-controlled trial of long-ter...

Pareyson(Davide),Schenone(Angelo),Fabrizi(... Pharmacol Res 2007-01-23

...PMP22 expression. The study will last 34 months, starting from March 2006.

Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth di...

Houlden(Henry),Reilly(Mary M) Neuromolecular Med 2007-03-15

...PMP22, MPZ, LITAF, and EGR2) have been described in the last 15 yr associated with AD CMTI and a further gene (NEFL), or...

Inherited focal, episodic neuropathies: hereditary neuropathy with liability ...

Chance(Phillip F) Neuromolecular Med 2007-03-15

...PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein level...

Animal models of Charcot-Marie-Tooth disease type 1A.

Sereda(M W),Nave(K-A) Neuromolecular Med 2007-03-15

...Pmp22 gene have provided formal proof that overexpression of only this candidate gene is sufficent to cause peripheral d...

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acroce...

Ou(Zhishuo),Jarmuz(Małgorzata),Sparagana(S... Hum Genet 2007-04-10

...PMP22 gene was duplicated. The chromosome 17 breakpoint was mapped within an approximately 383 kb LCR17pA that is known ...

The formation of peripheral myelin protein 22 aggregates is hindered by the e...

Fortun(Jenny),Verrier(Jonathan D),Go(Jocel... Neurobiol Dis 2007-04-11

...PMP22 are additive and provide a potential avenue for therapeutic approaches in hereditary neuropathies linked to PMP22 ...

Antiprogesterone therapy uncouples axonal loss from demyelination in a transg...

Meyer zu Horste(Gerd),Prukop(Thomas),Liebe... Ann Neurol 2007-03-27

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy, and a duplication of the Pmp22 gene causes th...

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