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Items: 1 to 20 of 28

1.

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

Mollet J, Giurgea I, Schlemmer D, Dallner G, Chretien D, Delahodde A, Bacq D, de Lonlay P, Munnich A, Rötig A.

J Clin Invest. 2007 Mar;117(3):765-72.

2.

Infantile and pediatric quinone deficiency diseases.

Rötig A, Mollet J, Rio M, Munnich A.

Mitochondrion. 2007 Jun;7 Suppl:S112-21. Epub 2007 Mar 16. Review.

PMID:
17442627
3.

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.

Montero R, Pineda M, Aracil A, Vilaseca MA, Briones P, Sánchez-Alcázar JA, Navas P, Artuch R.

Cerebellum. 2007;6(2):118-22. Review.

PMID:
17510911
4.

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

Jakobs BS, van den Heuvel LP, Smeets RJ, de Vries MC, Hien S, Schaible T, Smeitink JA, Wevers RA, Wortmann SB, Rodenburg RJ.

J Neurol Sci. 2013 Mar 15;326(1-2):24-8. doi: 10.1016/j.jns.2013.01.004. Epub 2013 Jan 21. Review.

PMID:
23343605
5.

Coenzyme Q10 in neuromuscular and neurodegenerative disorders.

Mancuso M, Orsucci D, Volpi L, Calsolaro V, Siciliano G.

Curr Drug Targets. 2010 Jan;11(1):111-21. Review.

PMID:
20017723
6.

Primary coenzyme Q10 (CoQ 10) deficiencies and related nephropathies.

Ozaltin F.

Pediatr Nephrol. 2014 Jun;29(6):961-9. doi: 10.1007/s00467-013-2482-z. Epub 2013 Jun 5. Review.

PMID:
23736673
7.

The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease.

Haas RH.

Mitochondrion. 2007 Jun;7 Suppl:S136-45. Epub 2007 Mar 30. Review.

PMID:
17485245
8.

Coenzyme Q10 in phenylketonuria and mevalonic aciduria.

Hargreaves IP.

Mitochondrion. 2007 Jun;7 Suppl:S175-80. Epub 2007 Mar 16. Review.

PMID:
17442628
9.

Exercise intolerance and the mitochondrial respiratory chain.

DiMauro S.

Ital J Neurol Sci. 1999 Dec;20(6):387-93. Review.

PMID:
10937858
10.

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L.

J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. Review.

PMID:
25091424
11.

[Susceptibility gene in multiple system atrophy (MSA)].

Tsuji S.

Rinsho Shinkeigaku. 2014;54(12):969-71. doi: 10.5692/clinicalneurol.54.969. Review. Japanese.

PMID:
25672683
12.

The transmission of OXPHOS disease and methods to prevent this.

Jacobs LJ, de Wert G, Geraedts JP, de Coo IF, Smeets HJ.

Hum Reprod Update. 2006 Mar-Apr;12(2):119-36. Epub 2005 Sep 30. Review.

PMID:
16199488
13.

Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms.

Kawamukai M.

Biotechnol Appl Biochem. 2009 Jun 22;53(Pt 4):217-26. doi: 10.1042/BA20090035. Review.

PMID:
19531029
14.

Molecular genetic and clinical aspects of mitochondrial disorders in childhood.

Moslemi AR, Darin N.

Mitochondrion. 2007 Jul;7(4):241-52. Epub 2007 Feb 14. Review.

PMID:
17376748
15.

Protein synthesis and assembly in mitochondrial disorders.

Pérez-Martínez X, Funes S, Camacho-Villasana Y, Marjavaara S, Tavares-Carreón F, Shingú-Vázquez M.

Curr Top Med Chem. 2008;8(15):1335-50. Review.

PMID:
18991722
16.

[Progress in mitochondrial nephropathy].

Guan N.

Zhonghua Er Ke Za Zhi. 2014 Jul;52(7):503-5. Review. Chinese. No abstract available.

PMID:
25224054
17.

[Coenzyme Q10 deficiency].

Imataka G, Yamanouchi H.

Nihon Rinsho. 2002 Apr;60 Suppl 4:462-5. Review. Japanese. No abstract available.

PMID:
12013914
18.

Molecular diagnosis of coenzyme Q10 deficiency.

Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Review.

PMID:
26144946
19.

CoQ10 deficiency diseases in adults.

Quinzii CM, Hirano M, DiMauro S.

Mitochondrion. 2007 Jun;7 Suppl:S122-6. Epub 2007 Mar 27. Review.

20.

[Mitochondrial diseases with recurrent myoglobinuria].

Murakami N.

Ryoikibetsu Shokogun Shirizu. 2001;(36):183-5. Review. Japanese. No abstract available.

PMID:
11596365

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