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PMP22 expression in dermal nerve myelin from patients with CMT1A.

Katona(Istvan),Wu(Xingyao),Feely(Shawna M ... Brain 2009-09-09

...PMP22 in CMT1A results in disruption of the tightly regulated expression of PMP22. Thus, variability of PMP22 levels, ra...

Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.

Fusco(Carlo),Frattini(Daniele),Scarano(Ang... Pediatr Neurol 2009-08-10

...PMP22. Her father, carrying the same gene duplication, developed neuropathy, tremor, and auditory impairment beginning i...

Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomis...

Burns(Joshua),Ouvrier(Robert A),Yiu(Eppie ... Lancet Neurol 2009-06-23

...PMP22, the gene that encodes peripheral myelin protein 22. High-dose ascorbic acid has been shown to have remyelinating ...

[Detection of duplications or deletions of the PMP22 gene using real-time qua...

Zhang(Fu-feng),Tang(Bei-sha),Shen(Yan),Zha... Zhonghua Yi Xue Yi Chuan Xu... 2009-03-19

...PMP22 duplication, 4 HNPP cases had the PMP22 deletion. No duplication or deletion was found in 50 normal controls.,The ...

Myelin sheaths are formed with proteins that originated in vertebrate lineage...

Gould(Robert M),Oakley(Todd),Goldstone(Jar... Neuron Glia Biol 2009-10-30

...PMP22) and (6) stathmin-1 (STMN1). Although widely distributed in gnathostome/vertebrate genomes, neither MBP nor MPZ ar...

Charcot-Marie-Tooth (CMT) disease 1A with superimposed inflammatory polyneuro...

Desurkar(A),Lin(J-P),Mills(K),Al-Sarraj(S)... Neuropediatrics 2009-12-07

...PMP22 segment on chromosome 17p, often arises in childhood but is generally a slowly progressive disease. We report 2 ch...

[Charcot-Marie-Tooth disorders with autosomal recessive inheritance. Search f...

Kabzińska(Dagmara),Franaszczyk(Maria),Koch... Med Wieku Rozwoj 2009-11-17

...PMP22 gene dosage (real-time polymerase chain reaction and polymerase chain reaction restriction fragments length polymo...

Antiproliferative effect of ascorbic acid is associated with the inhibition o...

Belin(Sophie),Kaya(Ferdinand),Duisit(Ghisl... PLoS One 2009-03-20

...PMP22 gene expression and partially correct the Charcot-Marie-Tooth disease phenotype in a mouse model. This is due to t...

[Hereditary neuropathy: recent advance].

Nakagawa(Masanori) Rinsho Shinkeigaku 2009-04-08

...PMP22 (CMT1A) accounts for about 70% of CMT1 and MFN2 mutations account for 25% of CMT2. Genes involved in phosphoinosit...

Diabetes mellitus exacerbates motor and sensory impairment in CMT1A.

Sheth(Soham),Francies(Kevin),Siskind(Carly... J Peripher Nerv Syst 2009-04-30

...PMP22 on chromosome 17 and is the most commonly inherited demyelinating neuropathy. Diabetes frequently causes predomina...

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