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Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/...

Poitelon(Yannick),Kozlov(Serguei),Devaux(J... Neuromolecular Med 2012-07-20

...Pmp22 in Lmna (R298C/R298C) mice are still unclear, our results support a relation between Lmna and Pmp22 and constitute...

Bridging peripheral nerve defects with a tissue engineered nerve graft compos...

Tang(Xin),Xue(Chengbin),Wang(Yaxian),Ding(... Biomaterials 2012-07-05

...PMP22. Twelve weeks after nerve grafting, the TENG produced a further improved outcome of nerve regeneration and functio...

Lithium enhances remyelination of peripheral nerves.

Makoukji(Joelle),Belle(Martin),Meffre(Delp... Proc Natl Acad Sci U S A 2012-05-04

...PMP22 promoter activities, transcripts, and protein levels are stimulated by GSK3β inhibitors (LiCl and SB216763) in Sch...

Psychiatric symptoms of patients with primary mitochondrial DNA disorders.

Inczedy-Farkas(Gabriella),Remenyi(Viktoria... Behav Brain Funct 2012-08-09

...PMP22) mutation were examined with the same tools.,The two groups did not differ significantly in gender, age or educati...

[Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease].

Berciano(J),Sevilla(T),Casasnovas(C),Siver... Neurologia 2012-08-07

...PMP22, GJB1 and MPZ; for CMT2, MFN2 and GJB1; for CMT4, GDAP1, and NDRG1, HK1 and SH3TC2 (gypsies); for AR-CMT2, GDAP1; ...

Identification of novel candidate oncogenes in chromosome region 17p11.2-p12 ...

Both(Joeri),Wu(Thijs),Bras(Johannes),Schaa... PLoS One 2012-06-04

...PMP22 have been identified as candidate oncogenes in this region. Considering the complexity and variation of the amplif...

Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel...

Nakamura(Tomonori),Hashiguchi(Akihiro),Suz... Neurogenetics 2012-05-22

...PMP22) gene. However, whether or not VCR exacerbates neuropathies through mutations in other CMT-associated genes beside...

ENU mutagenesis in mice identifies candidate genes for hypogonadism.

Weiss(Jeffrey),Hurley(Lisa A),Harris(Rebec... Mamm Genome 2012-09-17

...Pmp22), growth retardation (unknown gene), and hydrocephalus (unknown gene). These results demonstrate that the ENU scre...

Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.

Jones(Erin A),Brewer(Megan H),Srinivasan(R... Hum Mol Genet 2012-11-19

...PMP22. The correct gene dosage of PMP22 is critical; a duplication of PMP22 is the most common cause of the peripheral n...

A novel small deletion in PMP22 causes a mild hereditary neuropathy with liab...

Casasnovas(Carlos),Banchs(Isabel),De Jorge... Muscle Nerve 2012-02-07

...PMP22 gene.,Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP wit...

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