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Differential expression of cyclin G2, cyclin-dependent kinase inhibitor 2C an...

Zhang(J),Suh(Y),Choi(Y M),Ahn(J),Davis(M E... Animal 2015-06-05

...PMP22) - were selected for study because they are relatively highly expressed in adipose tissue compared with muscle, he...

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Calpena(E),Martínez-Rubio(D),Arpa(J),Garcí... Neuromuscul Disord 2015-03-02

...PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9...

Normal nerve striations are altered in the trembler-J mouse, a model of Charc...

Power(Bridget J),O'reilly(Gavin),Murphy(Ro... Muscle Nerve 2015-03-11

...PMP22) possess excessively long axons may be related to the excess Schwann cell numbers found in this disorder.

Developmental regulations of Perp in mice molar morphogenesis.

Neupane(Sanjiv),Sohn(Wern-Joo),Rijal(Girdh... Cell Tissue Res 2015-06-11

...PMP22), which is found in the plasma membrane as a component of the desmosome, is reported to be involved in the morphog...

Rapamycin improves peripheral nerve myelination while it fails to benefit neu...

Nicks(Jessica),Lee(Sooyeon),Harris(Andrew)... Neurobiol Dis 2015-04-21

...PMP22) has been linked to CMT1A and is modeled by Trembler J (TrJ) mice, which carry the same leucine to proline substit...

Unravelling crucial biomechanical resilience of myelinated peripheral nerve f...

Rosso(Gonzalo),Liashkovich(Ivan),Gess(Burk... Sci Rep 2015-10-09

...Pmp22(-/-) fibres is significantly altered compared to wild-type fibres. In conclusion, the basal lamina and PMP22 act i...

PMP22 is critical for actin-mediated cellular functions and for establishing ...

Lee(Sooyeon),Amici(Stephanie),Tavori(Hagai... J Neurosci 2015-01-26

...PMP22, the migration and adhesion capacity of Schwann cells and fibroblasts are similarly impaired. Furthermore, PMP22-d...

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropa...

Fridman(V),Bundy(B),Reilly(M M),Pareyson(D... J Neurol Neurosurg Psychiat... 2015-09-30

...PMP22 duplication, CMT1X/GJB1 mutation, CMT2A/MFN2 mutation, CMT1B/MPZ mutation, and hereditary neuropathy with liabilit...

Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Ital...

Manganelli(Fiore),Tozza(Stefano),Pisciotta... J Peripher Nerv Syst 2015-10-16

...PMP22, GJB1, MPZ, and GDAP1) accounted for 92% of all genetically confirmed CMT cases. In CMT1, PMP22 duplication was th...

Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an...

Tazir(Meriem),Hamadouche(Tarik),Nouioua(So... J Neurol Sci 2015-08-06

...PMP22, MPZ, MFN2 and GJB1. Given the considerable genetic heterogeneity of CMT, we emphasize the interest of both clinic...

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