Similar articles for PMID: 17332895

Year	Number of Results
1983	1
1992	1
1997	1
2000	4
2001	4
2002	3
2003	2
2004	6
2005	8
2006	9
2007	21
2008	18
2009	9
2010	6
2011	8
2012	4
2013	8
2014	11
2015	7
2016	11
2017	13
2018	11
2019	4
2020	12
2021	7
2022	2
2023	2
2024	0

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. Mollet J, et al. J Clin Invest. 2007 Mar;117(3):765-72. doi: 10.1172/JCI29089. J Clin Invest. 2007. PMID: 17332895 Free PMC article.

2

Infantile and pediatric quinone deficiency diseases.

Rötig A, Mollet J, Rio M, Munnich A. Rötig A, et al. Mitochondrion. 2007 Jun;7 Suppl:S112-21. doi: 10.1016/j.mito.2007.02.008. Epub 2007 Mar 16. Mitochondrion. 2007. PMID: 17442627 Review.

3

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L. Scalais E, et al. Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28. Eur J Paediatr Neurol. 2013. PMID: 23816342

4

Functional characterization of OsPPT1, which encodes p-hydroxybenzoate polyprenyltransferase involved in ubiquinone biosynthesis in Oryza sativa.

Ohara K, Yamamoto K, Hamamoto M, Sasaki K, Yazaki K. Ohara K, et al. Plant Cell Physiol. 2006 May;47(5):581-90. doi: 10.1093/pcp/pcj025. Epub 2006 Feb 24. Plant Cell Physiol. 2006. PMID: 16501255

5

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

Diomedi-Camassei F, Di Giandomenico S, Santorelli FM, Caridi G, Piemonte F, Montini G, Ghiggeri GM, Murer L, Barisoni L, Pastore A, Muda AO, Valente ML, Bertini E, Emma F. Diomedi-Camassei F, et al. J Am Soc Nephrol. 2007 Oct;18(10):2773-80. doi: 10.1681/ASN.2006080833. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855635

6

Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.

Nardecchia F, De Giorgi A, Palombo F, Fiorini C, De Negri AM, Carelli V, Caporali L, Leuzzi V. Nardecchia F, et al. Ann Clin Transl Neurol. 2021 Jan;8(1):247-251. doi: 10.1002/acn3.51232. Epub 2020 Dec 7. Ann Clin Transl Neurol. 2021. PMID: 33285023 Free PMC article.

7

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

López-Martín JM, Salviati L, Trevisson E, Montini G, DiMauro S, Quinzii C, Hirano M, Rodriguez-Hernandez A, Cordero MD, Sánchez-Alcázar JA, Santos-Ocaña C, Navas P. López-Martín JM, et al. Hum Mol Genet. 2007 May 1;16(9):1091-7. doi: 10.1093/hmg/ddm058. Epub 2007 Mar 20. Hum Mol Genet. 2007. PMID: 17374725 Free PMC article.

8

Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.

Forsgren M, Attersand A, Lake S, Grünler J, Swiezewska E, Dallner G, Climent I. Forsgren M, et al. Biochem J. 2004 Sep 1;382(Pt 2):519-26. doi: 10.1042/BJ20040261. Biochem J. 2004. PMID: 15153069 Free PMC article.

9

Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.

Fragaki K, Chaussenot A, Benoist JF, Ait-El-Mkadem S, Bannwarth S, Rouzier C, Cochaud C, Paquis-Flucklinger V. Fragaki K, et al. Biol Res. 2016 Jan 8;49:4. doi: 10.1186/s40659-015-0065-0. Biol Res. 2016. PMID: 26742794 Free PMC article.

10

Clinical spectrum in multiple families with primary COQ₁₀ deficiency.

Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A. Hashemi SS, et al. Am J Med Genet A. 2021 Feb;185(2):440-452. doi: 10.1002/ajmg.a.61983. Epub 2020 Nov 20. Am J Med Genet A. 2021. PMID: 33215859

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