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Aggresome formation in neuropathy models based on peripheral myelin protein 2...

Ryan(Mary C),Shooter(Eric M),Notterpek(Lucia) Neurobiol Dis 2002-09-06

...PMP22 aggregates. Aggresome formation has now been observed with two mutant PMP22s, the Tr- and TrJ-PMP22 when the prote...

Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells.

Ingram(Wendy J),Wicking(Carol A),Grimmond(... Oncogene 2002-12-23

...PMP22, LASP1) and four of which are repressed (SFRP-1, SFRP-2, Mip1-gamma, Amh) by Shh. These targets have a diverse ran...

[PCR in the gene diagnosis of Charcot-Marie-Tooth disease].

Xiao(J),Tang(B),Xia(J) Zhonghua Yi Xue Za Zhi 2002-04-26

...PMP22 genes were performed by PCR-RFLP, PCR-SSCP, PCR-DGGE and/or direct sequencing in 32 CMT probands of the Hans in Ch...

An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Ja...

Kurihara(Saiko),Adachi(Yoshiki),Wada(Kenji... Neuroepidemiology 2002-10-08

...PMP22 gene was suggested and no abnormalities were found in 2 families. To identify the occurrence of mildly affected CM...

Hereditary neuropathy with liability to pressure palsies with a small deletio...

van de Wetering(R A C),Gabreëls-Festen(A A... Neuromuscul Disord 2002-12-13

...PMP22). Most hereditary neuropathy with liability to pressure palsies cases are caused by a deletion of a 1.5 Mb region ...

Immunohistochemistry study of human vestibular nerve schwannoma differentiation.

Hung(Gene),Colton(Joyce),Fisher(Laurel),Op... Glia 2002-08-07

...PMP22), were greatly reduced. However, high expression levels of nerve growth factor receptor (NGFR), neural cell adhesi...

The range of chronic demyelinating neuropathy of infancy: a clinico-pathologi...

Planté-Bordeneuve(V),Parman(Y),Guiochon-Ma... J Neurol 2002-02-21

...PMP22, P0 and Egr2 genes was performed in all cases and 14 underwent a nerve biopsy. First manifestations of neuropathy ...

[Hereditary neuropathy with liability to pressure palsies: study of six Spani...

Pou Serradell(A),Monells(J),Téllez(M J),Fo... Rev Neurol (Paris) 2002-07-29

...PMP22 mutation. However, the CMT disease-like chronic polyneuropathy was more common in the PMP22 mutation family. Intra...

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease ...

Bernard(Rafaëlle),Boyer(Amandine),Nègre(Ph... Eur J Hum Genet 2002-12-10

...PMP22 gene. This is a non-lethal disease with a wide spectrum of severity, from asymptomatism to severe motor and sensor...

Understanding Schwann cell-neurone interactions: the key to Charcot-Marie-Too...

Maier(Marcel),Berger(Philipp),Suter(Ueli) J Anat 2002-07-19

...PMP22 gene dosage or missense point mutations affecting the PMP22 gene (CMT type 1A; CMT1A). Animal models in rat and mo...

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