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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1997 | 1 |
1998 | 1 |
2000 | 2 |
2005 | 1 |
2006 | 1 |
2011 | 1 |
2014 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 1120
7 results
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Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
Eur J Paediatr Neurol. 2014 Nov;18(6):796-800. doi: 10.1016/j.ejpn.2014.06.005. Epub 2014 Jun 20.
Eur J Paediatr Neurol. 2014.
PMID: 24997086
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.
Mitsuhashi S, et al.
Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.
Am J Hum Genet. 2011.
PMID: 21665002
Free PMC article.
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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.
Sher RB, et al.
J Biol Chem. 2006 Feb 24;281(8):4938-48. doi: 10.1074/jbc.M512578200. Epub 2005 Dec 21.
J Biol Chem. 2006.
PMID: 16371353
Free article.
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Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.
Yamazaki N, Shinohara Y, Kajimoto K, Shindo M, Terada H.
Yamazaki N, et al.
J Biol Chem. 2000 Oct 13;275(41):31739-46. doi: 10.1074/jbc.M006322200.
J Biol Chem. 2000.
PMID: 10918069
Free article.
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Structure and characterization of the genes for murine choline/ethanolamine kinase isozymes alpha and beta.
Aoyama C, Yamazaki N, Terada H, Ishidate K.
Aoyama C, et al.
J Lipid Res. 2000 Mar;41(3):452-64.
J Lipid Res. 2000.
PMID: 10706593
Free article.
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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.
Nishino I, et al.
Muscle Nerve. 1998 Jan;21(1):40-7. doi: 10.1002/(sici)1097-4598(199801)21:1<40::aid-mus6>3.0.co;2-g.
Muscle Nerve. 1998.
PMID: 9427222
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Choline/ethanolamine kinase from mammalian tissues.
Ishidate K.
Ishidate K.
Biochim Biophys Acta. 1997 Sep 4;1348(1-2):70-8. doi: 10.1016/s0005-2760(97)00118-5.
Biochim Biophys Acta. 1997.
PMID: 9370318
Review.
No abstract available.
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