De Goede(Christian),Oh(Teik),Joseph(Jacob)... Pediatr Neurol 2016-09-23

...CHKB gene.,This selective pattern of skeletal muscle involvement might be helpful for identifying other patients with th...

Cabrera-Serrano(Macarena),Junckerstorff(Re... Muscle Nerve 2015-03-09

Mutations in the choline kinase beta (CHKB) gene are associated with a congenital muscular dystrophy with giant mitochon...

Wortmann(Saskia B),Espeel(Marc),Almeida(Li... J Inherit Metab Dis 2015-10-08

...CHKB deficiency (CHKB). Boucher-Neuhäuser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic p...

Castro-Gago(Manuel),Dacruz-Alvarez(David),... Eur J Paediatr Neurol 2015-07-10

...CHKB gene (NM_005198.4:c.810T>A, p.Tyr270*).,Our data confirm the role of CHKB in MDCMC and point to this gene as unique...

Kular(Jasreen),Tickner(Jennifer C),Pavlos(... J Biol Chem 2015-05-04

...CHKB corresponds with a reduction in bone formation by osteoblasts. Taken together, these data posit CHKB as a new modul...

Nishino(Ichizo) Rinsho Shinkeigaku 2015-08-17

...Chkb gene encoding the choline kinase β that catalyzes first enzymatic step in a biosynthetic pathway for phosphatidylch...

Mitsuhashi(Satomi),Nishino(Ichizo) Curr Opin Neurol 2014-04-14

Recessive mutations in CHKB cause a megaconial congenital muscular dystrophy whose most characteristic feature is mitoch...

Li(Zhuo),Wu(Gengshu),Sher(Roger B),Khavand... Biochim Biophys Acta 2014-08-18

...Chkb. Inactivation of Chka in mice results in embryonic lethality, whereas Chkb(-/-) mice display neonatal forelimb bone...

da Costa(Kerry-Ann),Corbin(Karen D),Nicule... FASEB J 2014-09-25

...CHKB (rs1557502, A) were more common in these individuals. This suggests that pathways related to choline metabolism are...

Cingoz(Sultan),Agilkaya(Sinem),Oztura(Ibra... Genet Test Mol Biomarkers 2014-11-24

The HLA-DQB1*06:02 allele across all ethnic groups and the rs5770917 variation between CPT1B and CHKB genes in Japanese ...