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Kovach(M J),Campbell(K C M),Herman(K),Wagg... Am J Med Genet 2002-04-24

...PMP22 gene located on chromosome 17p11.2-p12. This mutation is predicted to cause an Ala67Pro substitution in the second...

Hai(Mehreen),Muja(Naser),DeVries(George H)... J Neurosci Res 2002-10-16

...PMP22, P0, MBP, MAG, and LNGF-R) were assessed in primary Schwann cells and six representative Schwann cell lines (RT4-D...

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 ...

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...

Plante-Bordeneuve(Violaine),Said(Gérard) Muscle Nerve 2002-12-13

...PMP22, the transcriptional factor EGR2, and others have been implicated. Thus, DSD is now a component of the hereditary ...

Misko(A),Ferguson(T),Notterpek(L) J Neurochem 2002-12-24

...pmp22) of the Trembler-J (TrJ) mouse models the human peripheral neuropathy, Charcot-Marie-Tooth disease type 1 A (CMT1A...

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...

Takashima(H),Boerkoel(C F),Lupski(J R) Genet Med 2002-01-31

...PMP22, MPZ, GJB1 and EGR2. (2) Comparison of DHPLC with DNA sequencing for mutation detection in 168 patient DNA samples...

Takeda(Y),Notsu(T),Kitamura(K),Uyemura(K) Neurochem Res 2002-01-29

...PMP22 shows similarity in structure to OSP, which is a tetraspan membrane protein, we speculated if PASII/PMP22 could be...

Boerkoel(C F),Takashima(H),Bacino(C A),Dae... Neurogenetics 2002-01-16

...PMP22), the myelin protein zero gene (MPZ), or the gap junction protein beta1 gene (GJB1) and identified two DSN patient...