118 related articles for article (PubMed ID: 16798039)
1. Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
Pagnamenta AT; Hargreaves IP; Duncan AJ; Taanman JW; Heales SJ; Land JM; Bitner-Glindzicz M; Leonard JV; Rahman S
Mol Genet Metab; 2006 Nov; 89(3):214-21. PubMed ID: 16798039
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE; Rubinstein WS; Taschner PE
J Mol Med (Berl); 2001 Sep; 79(9):495-503. PubMed ID: 11692162
[TBL] [Abstract][Full Text] [Related]
3. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.
Alston CL; Davison JE; Meloni F; van der Westhuizen FH; He L; Hornig-Do HT; Peet AC; Gissen P; Goffrini P; Ferrero I; Wassmer E; McFarland R; Taylor RW
J Med Genet; 2012 Sep; 49(9):569-77. PubMed ID: 22972948
[TBL] [Abstract][Full Text] [Related]
4. Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy.
Ma YY; Wu TF; Liu YP; Wang Q; Li XY; Ding Y; Song JQ; Shi XY; Zhang WN; Zhao M; Hu LY; Ju J; Wang ZL; Yang YL; Zou LP
Brain Dev; 2014 May; 36(5):394-8. PubMed ID: 23849264
[TBL] [Abstract][Full Text] [Related]
5. Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.
Jackson CB; Nuoffer JM; Hahn D; Prokisch H; Haberberger B; Gautschi M; Häberli A; Gallati S; Schaller A
J Med Genet; 2014 Mar; 51(3):170-5. PubMed ID: 24367056
[TBL] [Abstract][Full Text] [Related]
6. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.
Spiekerkoetter U; Sun B; Khuchua Z; Bennett MJ; Strauss AW
Hum Mutat; 2003 Jun; 21(6):598-607. PubMed ID: 12754706
[TBL] [Abstract][Full Text] [Related]
7. Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).
Tomitsuka E; Hirawake H; Goto Y; Taniwaki M; Harada S; Kita K
J Biochem; 2003 Aug; 134(2):191-5. PubMed ID: 12966066
[TBL] [Abstract][Full Text] [Related]
8. Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.
Kaur P; Sharma S; Kadavigere R; Girisha KM; Shukla A
Ann Hum Genet; 2020 Jul; 84(4):345-351. PubMed ID: 32124427
[TBL] [Abstract][Full Text] [Related]
9. Preliminary molecular characterization and crystallization of mitochondrial respiratory complex II from porcine heart.
Huo X; Su D; Wang A; Zhai Y; Xu J; Li X; Bartlam M; Sun F; Rao Z
FEBS J; 2007 Mar; 274(6):1524-9. PubMed ID: 17480203
[TBL] [Abstract][Full Text] [Related]
10. The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M; McFarland R; Taylor RW; Alston CL
Mol Genet Metab; 2020; 131(1-2):53-65. PubMed ID: 33162331
[TBL] [Abstract][Full Text] [Related]
11. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Bourgeron T; Rustin P; Chretien D; Birch-Machin M; Bourgeois M; Viegas-Péquignot E; Munnich A; Rötig A
Nat Genet; 1995 Oct; 11(2):144-9. PubMed ID: 7550341
[TBL] [Abstract][Full Text] [Related]
12. Crystal structure of mitochondrial respiratory membrane protein complex II.
Sun F; Huo X; Zhai Y; Wang A; Xu J; Su D; Bartlam M; Rao Z
Cell; 2005 Jul; 121(7):1043-57. PubMed ID: 15989954
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation.
Berger I; Hershkovitz E; Shaag A; Edvardson S; Saada A; Elpeleg O
Ann Neurol; 2008 Mar; 63(3):405-8. PubMed ID: 18306244
[TBL] [Abstract][Full Text] [Related]
14. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Potluri P; Davila A; Ruiz-Pesini E; Mishmar D; O'Hearn S; Hancock S; Simon M; Scheffler IE; Wallace DC; Procaccio V
Mol Genet Metab; 2009 Apr; 96(4):189-95. PubMed ID: 19185523
[TBL] [Abstract][Full Text] [Related]
15. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS; Rio M; Faivre d'Arcier L; Vernerey D; Landrieu P; Slama A; Jardel C; Laforêt P; Rodriguez D; Dorison N; Galanaud D; Chabrol B; Paquis-Flucklinger V; Grévent D; Edvardson S; Steffann J; Funalot B; Villeneuve N; Valayannopoulos V; de Lonlay P; Desguerre I; Brunelle F; Bonnefont JP; Rötig A; Munnich A; Boddaert N
J Med Genet; 2011 Jan; 48(1):16-23. PubMed ID: 20972245
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy.
Fassone E; Taanman JW; Hargreaves IP; Sebire NJ; Cleary MA; Burch M; Rahman S
J Med Genet; 2011 Oct; 48(10):691-7. PubMed ID: 21931170
[TBL] [Abstract][Full Text] [Related]
17. The deleterious G15498A mutation in mitochondrial DNA-encoded cytochrome b may remain clinically silent in homoplasmic carriers.
Haut S; de Villemeur TB; Brivet M; Guiochon-Mantel A; Boutron A; Rustin P; Legrand A; Slama A
Eur J Hum Genet; 2004 Mar; 12(3):220-4. PubMed ID: 14735157
[TBL] [Abstract][Full Text] [Related]
18. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.
Vanniarajan A; Rajshekher GP; Joshi MB; Reddy AG; Singh L; Thangaraj K
Acta Neurol Scand; 2006 Nov; 114(5):350-3. PubMed ID: 17022785
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
Ueki I; Koga Y; Povalko N; Akita Y; Nishioka J; Yatsuga S; Fukiyama R; Matsuishi T
Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222
[TBL] [Abstract][Full Text] [Related]
20. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Levitas A; Muhammad E; Harel G; Saada A; Caspi VC; Manor E; Beck JC; Sheffield V; Parvari R
Eur J Hum Genet; 2010 Oct; 18(10):1160-5. PubMed ID: 20551992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
