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De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish p...

Kochański(Andrzej),Kabzińska(Dagmara) Acta Biochim Pol 2005-08-17

...PMP22 gene detected in patients of Polish origin suffering from CMT1 disease.

[The role of the immune system in hereditary demyelinating neuropathies].

Mäurer(M),Toyka(K V),Martini(R) Nervenarzt 2005-09-22

...PMP22, P0, and the gap junction protein Cx32. Myelin mutant mice are regarded as suitable animal models for several form...

Application of multiplex ligation-dependent probe analysis to define a small ...

Sutton(Ian J),Mocroft(A Paul),Lindley(Vict... Neuromuscul Disord 2005-03-03

...PMP22 gene is detected by analysis that utilises polymorphic (CA)n repeat markers which flank this gene. We report the c...

[Hereditary neuropathy with liability to pressure palsy presenting with an ac...

Degos(B),Echaniz-Laguna(A),Latour(P),Vande... Rev Neurol (Paris) 2005-03-08

...PMP22 gene (17p11.2).,We describe the case of a 31 year-old woman who presented with acute demyelinative peripheral poly...

Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys...

Sowden(J E),Logigian(E L),Malik(K),Herrman... J Neurol Neurosurg Psychiat... 2005-03-15

...PMP22 gene duplication).

An 8.5-kb segment of the PMP22 promoter responds to loss of axon signals duri...

Orfali(Wayel),Nicholson(Robert N),Guiot(Ma... J Neurosci Res 2005-05-26

...Pmp22) gene in transgenic mice. We found that the -8.5 kb rPmp22/chloramphenicol acetyl transferase (CAT)/beta-galactosi...

[Cellular contacts in myelinated fibers of the peripheral nervous system].

Oguievetskaia(Ksénia),Cifuentes-Diaz(Carme... Med Sci (Paris) 2005-04-26

...PMP22 and MBP. The basal lamina of myelinating Schwann cells contains laminin-2 which associates with the glial complex ...

[Update on hereditary neuropathy].

Nakagawa(Masanori),Takashima(Hiroshi) Rinsho Shinkeigaku 2005-03-04

...PMP22, GJB1, MPZ, EGR2, MTMR2, NDRG1, PRX, SOX10, GDAP1 and MTMR13/SBF2. In the primary peripheral axonal neuropathies (...

Impaired proteasome activity and accumulation of ubiquitinated substrates in ...

Fortun(Jenny),Li(Jie),Go(Jocelyn),Fensterm... J Neurochem 2005-04-22

...PMP22) have been observed in the Trembler J mouse model of Charcot-Marie-Tooth disease type 1A demyelinating neuropathy....

Distinct disease mechanisms in peripheral neuropathies due to altered periphe...

Giambonini-Brugnoli(Guya),Buchstaller(Joha... Neurobiol Dis 2005-05-17

...Pmp22-/- ("knockout"), Pmp22tg (increased Pmp22 copy number), and Trembler (Tr; point mutation in Pmp22) mutant mice wer...

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