Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 90

1.

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.

Mitsuhashi S, Nishino I.

Curr Opin Neurol. 2013 Oct;26(5):536-43. doi: 10.1097/WCO.0b013e328364c82d. Review.

PMID:
23945283
2.

[New congenital muscular dystrophy due to CHKB mutations].

Nishino I.

Rinsho Shinkeigaku. 2013;53(11):1112-3. Review. Japanese.

PMID:
24291895
3.

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.

Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.

4.

Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.

Gutiérrez Ríos P, Kalra AA, Wilson JD, Tanji K, Akman HO, Area Gómez E, Schon EA, DiMauro S.

Arch Neurol. 2012 May;69(5):657-61. doi: 10.1001/archneurol.2011.2333.

PMID:
22782513
5.

Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.

Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I.

Hum Mol Genet. 2011 Oct 1;20(19):3841-51. doi: 10.1093/hmg/ddr305. Epub 2011 Jul 12.

6.

Proximal myopathy with focal depletion of mitochondria and megaconial congenital muscular dystrophy are allelic conditions caused by mutations in CHKB.

Brady L, Giri M, Provias J, Hoffman E, Tarnopolsky M.

Neuromuscul Disord. 2016 Feb;26(2):160-4. doi: 10.1016/j.nmd.2015.11.002. Epub 2015 Dec 4.

PMID:
26782016
7.

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.

Sher RB, Aoyama C, Huebsch KA, Ji S, Kerner J, Yang Y, Frankel WN, Hoppel CL, Wood PA, Vance DE, Cox GA.

J Biol Chem. 2006 Feb 24;281(8):4938-48. Epub 2005 Dec 21.

8.

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J.

Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23.

PMID:
26855408
9.

Phospholipid synthetic defect and mitophagy in muscle disease.

Mitsuhashi S, Nishino I.

Autophagy. 2011 Dec;7(12):1559-61.

10.

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Cabrera-Serrano M, Junckerstorff RC, Atkinson V, Sivadorai P, Allcock RJ, Lamont P, Laing NG.

Muscle Nerve. 2015 Jan;51(1):140-3. doi: 10.1002/mus.24446. Epub 2014 Nov 22.

PMID:
25187204
11.

Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J, Martín MÁ, Martínez-Azorín F.

Eur J Paediatr Neurol. 2014 Nov;18(6):796-800. doi: 10.1016/j.ejpn.2014.06.005. Epub 2014 Jun 20.

PMID:
24997086
12.

Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Arenas J, Martín MÁ, Martínez-Azorín F.

Brain Dev. 2016 Jan;38(1):167-72. doi: 10.1016/j.braindev.2015.05.008. Epub 2015 May 23.

PMID:
26006750
13.

Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

Haliloglu G, Talim B, Sel CG, Topaloglu H.

J Inherit Metab Dis. 2015 Nov;38(6):1099-108. doi: 10.1007/s10545-015-9856-2. Epub 2015 Jun 12.

PMID:
26067811
14.

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.

Neuromuscul Disord. 2013 Jul;23(7):549-56. doi: 10.1016/j.nmd.2013.04.002. Epub 2013 May 18.

PMID:
23692895
15.

Understanding the muscular dystrophy caused by deletion of choline kinase beta in mice.

Wu G, Sher RB, Cox GA, Vance DE.

Biochim Biophys Acta. 2009 May;1791(5):347-56. doi: 10.1016/j.bbalip.2009.02.006. Erratum in: Biochim Biophys Acta. 2010 Feb;1801(2):205.

PMID:
19236939
16.

Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.

De Goede C, Oh T, Joseph J, Muntoni F, Sewry C, Phadke R.

Pediatr Neurol. 2016 Jan;54:49-54. doi: 10.1016/j.pediatrneurol.2015.09.018. Epub 2015 Nov 6.

PMID:
26548592
17.

A new congenital muscular dystrophy with mitochondrial structural abnormalities.

Nishino I, Kobayashi O, Goto Y, Kurihara M, Kumagai K, Fujita T, Hashimoto K, Horai S, Nonaka I.

Muscle Nerve. 1998 Jan;21(1):40-7.

PMID:
9427222
18.

Differential expression of choline kinase isoforms in skeletal muscle explains the phenotypic variability in the rostrocaudal muscular dystrophy mouse.

Wu G, Sher RB, Cox GA, Vance DE.

Biochim Biophys Acta. 2010 Apr;1801(4):446-54. doi: 10.1016/j.bbalip.2009.12.003. Epub 2009 Dec 21.

PMID:
20026284
19.

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

Oliveira J, Negrão L, Fineza I, Taipa R, Melo-Pires M, Fortuna AM, Gonçalves AR, Froufe H, Egas C, Santos R, Sousa M.

J Hum Genet. 2015 Jun;60(6):305-12. doi: 10.1038/jhg.2015.20. Epub 2015 Mar 5.

PMID:
25740612
20.

Choline kinase and its function.

Wu G, Vance DE.

Biochem Cell Biol. 2010 Aug;88(4):559-64. doi: 10.1139/O09-160. Review.

PMID:
20651826

Supplemental Content

Support Center