337 related articles for article (PubMed ID: 23631824)
1. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Dinwiddie DL; Smith LD; Miller NA; Atherton AM; Farrow EG; Strenk ME; Soden SE; Saunders CJ; Kingsmore SF
Genomics; 2013 Sep; 102(3):148-56. PubMed ID: 23631824
[TBL] [Abstract][Full Text] [Related]
2. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
Leslie N; Wang X; Peng Y; Valencia CA; Khuchua Z; Hata J; Witte D; Huang T; Bove KE
Hum Pathol; 2016 Mar; 49():27-32. PubMed ID: 26826406
[TBL] [Abstract][Full Text] [Related]
3. Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA; Vetro A; Limongelli I; Lunardi G; Casarin A; Doimo M; Spinazzi M; Angelini C; Cenacchi G; Burlina A; Rodriguez Hernandez MA; Chiandetti L; Clementi M; Trevisson E; Navas P; Zuffardi O; Salviati L
Eur J Hum Genet; 2015 Sep; 23(9):1254-8. PubMed ID: 25564041
[TBL] [Abstract][Full Text] [Related]
4. A family segregating lethal neonatal coenzyme Q
Smith AC; Ito Y; Ahmed A; Schwartzentruber JA; Beaulieu CL; Aberg E; Majewski J; Bulman DE; Horsting-Wethly K; Koning DV; ; Rodenburg RJ; Boycott KM; Penney LS
J Inherit Metab Dis; 2018 Jul; 41(4):719-729. PubMed ID: 29560582
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 26144946
[TBL] [Abstract][Full Text] [Related]
6. Clinical whole-exome sequencing reveals a common pathogenic variant in patients with CoQ
Ling TK; Law CY; Yan KW; Fong NC; Wong KC; Lee KL; Chu WC; Brea-Calvo G; Lam CW
Clin Chim Acta; 2019 Oct; 497():88-94. PubMed ID: 31325447
[TBL] [Abstract][Full Text] [Related]
7. Clinical spectrum in multiple families with primary COQ
Hashemi SS; Zare-Abdollahi D; Bakhshandeh MK; Vafaee A; Abolhasani S; Inanloo Rahatloo K; DanaeeFard F; Farboodi N; Rohani M; Alavi A
Am J Med Genet A; 2021 Feb; 185(2):440-452. PubMed ID: 33215859
[TBL] [Abstract][Full Text] [Related]
8. Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome.
Lu M; Zhou Y; Wang Z; Xia Z; Ren J; Guo Q
J Hum Genet; 2019 Apr; 64(4):297-304. PubMed ID: 30659264
[TBL] [Abstract][Full Text] [Related]
9. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C; Stranneheim H; Naess K; Mourier A; Felser A; Maffezzini C; Lesko N; Bruhn H; Engvall M; Wibom R; Barbaro M; Hinze Y; Magnusson M; Andeer R; Zetterström RH; von Döbeln U; Wredenberg A; Wedell A
J Med Genet; 2015 Nov; 52(11):779-83. PubMed ID: 26084283
[TBL] [Abstract][Full Text] [Related]
10. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A; Boczonadi V; Barca E; Pyle A; Bansagi B; Appleton M; Graham C; Hargreaves IP; Rasic VM; Lochmüller H; Griffin H; Taylor RW; Naini A; Chinnery PF; Hirano M; Quinzii CM; Horvath R
J Neurol; 2014 Nov; 261(11):2192-8. PubMed ID: 25182700
[TBL] [Abstract][Full Text] [Related]
11. Cellular Models for Primary CoQ Deficiency Pathogenesis Study.
Santos-Ocaña C; Cascajo MV; Alcázar-Fabra M; Staiano C; López-Lluch G; Brea-Calvo G; Navas P
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638552
[TBL] [Abstract][Full Text] [Related]
12. Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Marin SE; Mesterman R; Robinson B; Rodenburg RJ; Smeitink J; Tarnopolsky MA
Gene; 2013 Mar; 516(1):162-7. PubMed ID: 23266820
[TBL] [Abstract][Full Text] [Related]
13. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
Brea-Calvo G; Haack TB; Karall D; Ohtake A; Invernizzi F; Carrozzo R; Kremer L; Dusi S; Fauth C; Scholl-Bürgi S; Graf E; Ahting U; Resta N; Laforgia N; Verrigni D; Okazaki Y; Kohda M; Martinelli D; Freisinger P; Strom TM; Meitinger T; Lamperti C; Lacson A; Navas P; Mayr JA; Bertini E; Murayama K; Zeviani M; Prokisch H; Ghezzi D
Am J Hum Genet; 2015 Feb; 96(2):309-17. PubMed ID: 25658047
[TBL] [Abstract][Full Text] [Related]
14. ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
Hikmat O; Tzoulis C; Knappskog PM; Johansson S; Boman H; Sztromwasser P; Lien E; Brodtkorb E; Ghezzi D; Bindoff LA
Eur J Neurol; 2016 Jul; 23(7):1188-94. PubMed ID: 27106809
[TBL] [Abstract][Full Text] [Related]
15. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.
Shalata A; Edery M; Habib C; Genizi J; Mahroum M; Khalaily L; Assaf N; Segal I; Abed El Rahim H; Shapira H; Urian D; Tzur S; Douiev L; Saada A
Neurochem Res; 2019 Oct; 44(10):2372-2384. PubMed ID: 30968303
[TBL] [Abstract][Full Text] [Related]
16. 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
Biol Res; 2016 Jan; 49():4. PubMed ID: 26742794
[TBL] [Abstract][Full Text] [Related]
17. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
Starr MC; Chang IJ; Finn LS; Sun A; Larson AA; Goebel J; Hanevold C; Thies J; Van Hove JLK; Hingorani SR; Lam C
Pediatr Nephrol; 2018 Jul; 33(7):1257-1261. PubMed ID: 29637272
[TBL] [Abstract][Full Text] [Related]
18. Molecular diagnosis of coenzyme Q
Yubero D; Montero R; Santos-Ocaña C; Salviati L; Navas P; Artuch R
Expert Rev Mol Diagn; 2018 Jun; 18(6):491-498. PubMed ID: 29781757
[TBL] [Abstract][Full Text] [Related]
19. Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.
Eroglu FK; Ozaltin F; Gönç N; Nalçacıoğlu H; Özçakar ZB; Yalnızoğlu D; Güçer Ş; Orhan D; Eminoğlu FT; Göçmen R; Alikaşifoğlu A; Topaloğlu R; Düzova A
Pediatr Neurol; 2018 Nov; 88():71-74. PubMed ID: 30337132
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB; Gorza M; Danhauser K; Mayr JA; Haberberger B; Wieland T; Kremer L; Strecker V; Graf E; Memari Y; Ahting U; Kopajtich R; Wortmann SB; Rodenburg RJ; Kotzaeridou U; Hoffmann GF; Sperl W; Wittig I; Wilichowski E; Schottmann G; Schuelke M; Plecko B; Stephani U; Strom TM; Meitinger T; Prokisch H; Freisinger P
Mol Genet Metab; 2014 Mar; 111(3):342-352. PubMed ID: 24461907
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
