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Central nervous system abnormalities in patients with PMP22 gene mutations: a...

Chanson(Jean-Baptiste),Echaniz-Laguna(Ando... J Neurol Neurosurg Psychiat... 2013-04-29

...PMP22 mRNA and protein are also present in the central nervous system (CNS).,To investigate whether patients with PMP22 ...

Screening for candidate genes involved in the production of mouse subventricu...

Tabata(Hidenori),Hachiya(Tsuyoshi),Nagata(... Front Neuroanat 2013-08-05

...Pmp22 were stronger. Candidate molecules responsible for primate cortical expansion through an increase in bRGs may be i...

Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Tre...

Madrid(Ricardo E),Lofgren(Ann),Baets(Jonat... Neuromuscul Disord 2013-09-03

...PMP22 gene. The patient never walked independently and was wheelchair bound by age 18 years. Her parents and son were un...

Sequence motifs of myelin membrane proteins: towards the molecular basis of d...

Sedzik(Jan),Jastrzebski(Jan Pawel),Ikenaka... J Neurosci Res 2013-08-05

...PMP22 had the fewest myristoylation motifs, which was only one; rat PMP22 contained no such motifs. Cholesterol recognit...

Parental mosaicism of a novel PMP22 mutation with a minimal neuropathic pheno...

Taioli(Federica),Bertolasi(Laura),Ajena(Do... J Peripher Nerv Syst 2013-06-11

...PMP22) associated with an early-onset demyelinating CMT type 1 E (CMT1E) in two siblings born from asymptomatic non-cons...

Pemphigus vulgaris autoantibody profiling by proteomic technique.

Kalantari-Dehaghi(Mina),Anhalt(Grant J),Ca... PLoS One 2013-09-06

...PMP22 and HLA-E genes as well as mitochondrial proteins encoded by the NDUFS1, CYB5B, SOD2, PDHA1 and FH genes. The high...

Differential regulation of Wnt/beta-catenin signaling by Liver X Receptors in...

Shackleford(Ghjuvan'Ghjacumu),Makoukji(Joe... Biochem Pharmacol 2013-09-19

...PMP22) expression: 25-OH inhibits MPZ and PMP22 in Schwann cell line but not in oligodendrocyte cell line. Importantly, ...

Hereditary neuropathy with liability to pressure palsy: a recurrent and bilat...

Flor-de-Lima(Filipa),Macedo(Liliana),Taipa... Case Rep Pediatr 2013-11-19

...PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressiv...

Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.

Tokunaga(Shoko),Hashiguchi(Akihiro),Yoshim... Neurogenetics 2013-04-10

...PMP22 duplication. We investigated PRX mutations using a purpose-built resequencing array screen during the period 2006-...

[Genetic diagnosis and molecular pathology of inherited neuropathy].

Takashima(Hiroshi) Rinsho Shinkeigaku 2013-04-08

...PMP22, EGR2, MFN2, NEFL, PRX, AARS, GARS, DNM2, and SETX genes in CMT patients.

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