264 related articles for article (PubMed ID: 24367056)
1. 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]
2. 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]
3. SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Courage C; Jackson CB; Hahn D; Euro L; Nuoffer JM; Gallati S; Schaller A
Am J Med Genet A; 2017 Jan; 173(1):225-230. PubMed ID: 27683074
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S; Fasham J; Al-Hijawi F; Qutob N; Gunning A; Leslie JS; McGavin L; Ubeyratna N; Baker W; Zeid R; Turnpenny PD; Crosby AH; Baple EL; Khalaf-Nazzal R
Eur J Hum Genet; 2021 Oct; 29(10):1570-1576. PubMed ID: 34012134
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.
Astuti D; Hart-Holden N; Latif F; Lalloo F; Black GC; Lim C; Moran A; Grossman AB; Hodgson SV; Freemont A; Ramsden R; Eng C; Evans DG; Maher ER
Clin Endocrinol (Oxf); 2003 Dec; 59(6):728-33. PubMed ID: 14974914
[TBL] [Abstract][Full Text] [Related]
7. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.
Benn DE; Croxson MS; Tucker K; Bambach CP; Richardson AL; Delbridge L; Pullan PT; Hammond J; Marsh DJ; Robinson BG
Oncogene; 2003 Mar; 22(9):1358-64. PubMed ID: 12618761
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel germline mutations in the SDHB and SDHD genes in Japanese pheochromocytomas.
Isobe K; Minowada S; Tatsuno I; Suzukawa K; Nissato S; Nanmoku T; Hara H; Yashiro T; Kawakami Y; Takekoshi K
Horm Res; 2007; 68(2):68-71. PubMed ID: 17308434
[TBL] [Abstract][Full Text] [Related]
10. The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.
Bayley JP; Devilee P; Taschner PE
BMC Med Genet; 2005 Nov; 6():39. PubMed ID: 16288654
[TBL] [Abstract][Full Text] [Related]
11. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.
Douwes Dekker PB; Hogendoorn PC; Kuipers-Dijkshoorn N; Prins FA; van Duinen SG; Taschner PE; van der Mey AG; Cornelisse CJ
J Pathol; 2003 Nov; 201(3):480-6. PubMed ID: 14595761
[TBL] [Abstract][Full Text] [Related]
12. SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
Mhatre AN; Li Y; Feng L; Gasperin A; Lalwani AK
Clin Genet; 2004 Nov; 66(5):461-6. PubMed ID: 15479192
[TBL] [Abstract][Full Text] [Related]
13. High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands.
Hensen EF; van Duinen N; Jansen JC; Corssmit EP; Tops CM; Romijn JA; Vriends AH; van der Mey AG; Cornelisse CJ; Devilee P; Bayley JP
Clin Genet; 2012 Mar; 81(3):284-8. PubMed ID: 21348866
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. [From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].
Taschner PE; Bröcker-Vriends AH; van der Mey AG
Ned Tijdschr Geneeskd; 2002 Nov; 146(46):2188-90. PubMed ID: 12467161
[TBL] [Abstract][Full Text] [Related]
16. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP; van Minderhout I; Weiss MM; Jansen JC; Oomen PH; Menko FH; Pasini B; Ferrando B; Wong N; Alpert LC; Williams R; Blair E; Devilee P; Taschner PE
BMC Med Genet; 2006 Jan; 7():1. PubMed ID: 16405730
[TBL] [Abstract][Full Text] [Related]
17. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma.
Bayley JP; Kunst HP; Cascon A; Sampietro ML; Gaal J; Korpershoek E; Hinojar-Gutierrez A; Timmers HJ; Hoefsloot LH; Hermsen MA; Suárez C; Hussain AK; Vriends AH; Hes FJ; Jansen JC; Tops CM; Corssmit EP; de Knijff P; Lenders JW; Cremers CW; Devilee P; Dinjens WN; de Krijger RR; Robledo M
Lancet Oncol; 2010 Apr; 11(4):366-72. PubMed ID: 20071235
[TBL] [Abstract][Full Text] [Related]
18. SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N; Brière JJ; Libé R; Vescovo L; Rivière J; Tissier F; Jouanno E; Jeunemaitre X; Bénit P; Tzagoloff A; Rustin P; Bertherat J; Favier J; Gimenez-Roqueplo AP
Hum Mol Genet; 2010 Aug; 19(15):3011-20. PubMed ID: 20484225
[TBL] [Abstract][Full Text] [Related]
19. Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia.
Gill AJ
Pathology; 2012 Jun; 44(4):285-92. PubMed ID: 22544211
[TBL] [Abstract][Full Text] [Related]
20. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
Taschner PE; Jansen JC; Baysal BE; Bosch A; Rosenberg EH; Bröcker-Vriends AH; van Der Mey AG; van Ommen GJ; Cornelisse CJ; Devilee P
Genes Chromosomes Cancer; 2001 Jul; 31(3):274-81. PubMed ID: 11391798
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]