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Alterations in degradative pathways and protein aggregation in a neuropathy m...

Fortun(Jenny),Go(Jocelyn C),Li(Jie),Amici(... Neurobiol Dis 2006-06-01

...PMP22) gene. Mice expressing seven copies of the human PMP22, termed C22, suffer from a demyelinating neuropathy and dis...

Central nervous system involvement in hereditary neuropathy with liability to...

Sanahuja(Jordi),Franco(Elena),Rojas-García... Arch Neurol 2006-01-20

...PMP22 (peripheral myelin protein 22) gene deletion in the central nervous system should be further studied.

[Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth ...

Luo(Wei),Tang(Ye-Lei),Tang(Bei-sha),Ding(M... Zhejiang Da Xue Xue Bao Yi ... 2006-12-05

...PMP22 gene duplications were detected by highly polymorphic short tandem repeat. Point mutation analysis of PMP22, MPZ a...

Analyses of the differentiation potential of satellite cells from myoD-/-, md...

Schuierer(Marion M),Mann(Christopher J),Bi... BMC Musculoskelet Disord 2006-01-31

...PMP22 mice, a model of human motor and sensory neuropathy type 1A (HMSN1A).,Single extensor digitorum longus muscle fibr...

Charcot-Marie-Tooth disease and related hereditary polyneuropathies: molecula...

Szigeti(Kinga),Garcia(Carlos A),Lupski(Jam... Genet Med 2006-04-03

...PMP22 mutations are less common, identified on average in 2.9% and 1.5% of patients, respectively. Other genes not teste...

Pathogenesis of chronic inflammatory demyelinating polyradiculoneuropathy.

Hughes(Richard A C),Allen(David),Makowska(... J Peripher Nerv Syst 2006-05-10

...PMP22, each induce experimental autoimmune neuritis in rodent models and might be autoantigens in CIDP. The strongest ev...

Normal expression of myelin protein zero with frame-shift mutation correlates...

Steck(Andreas J),Erne(Beat),Pareyson(David... J Peripher Nerv Syst 2006-05-10

...PMP22) protein expression levels in a nerve biopsy of a Charcot-Marie-Tooth type 1B patient heterozygous for the Val 102...

Large-scale molecular comparison of human schwann cells to malignant peripher...

Miller(Shyra J),Rangwala(Fatima),Williams(... Cancer Res 2006-04-18

...PMP22, and NGFR) was down-regulated in MPNSTs whereas neural crest stem cell markers, SOX9 and TWIST1, were overexpresse...

Clinical, electrophysiological and molecular genetic studies in a family with...

Beauvais(Katell),Furby(Alain),Latour(Phili... Neuromuscul Disord 2006-04-12

...PMP22, MPZ, LITAF/SIMPLE, EGR2 (CMT1A to D), and GJB1 (CMTX). Here, we report clinical, electrophysiological and molecul...

Molecular alterations resulting from frameshift mutations in peripheral myeli...

Johnson(J S),Roux(K J),Fletcher(B S),Fortu... J Neurosci Res 2006-03-14

...PMP22s are retained in the cell, prior to reaching the medial Golgi compartment. Similar to Wt-PMP22, both frameshift mu...

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