143 related articles for article (PubMed ID: 34839152)
1. A novel bi-allelic variant in the SDHB gene causes a severe mitochondrial complex II deficiency: a case report.
Ece Solmaz A; Pariltay E; Talim B; Onay H
Clin Neurol Neurosurg; 2022 Jan; 212():107039. PubMed ID: 34839152
[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. 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]
4. 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]
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. 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]
7. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency.
Nimmo GAM; Ejaz R; Cordeiro D; Kannu P; Mercimek-Andrews S
Am J Med Genet A; 2018 Feb; 176(2):399-403. PubMed ID: 29193829
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Sturrock BRH; Macnamara EF; McGuire P; Kruk S; Yang I; Murphy J; ; Tifft CJ; Gordon-Lipkin E
Mol Genet Genomic Med; 2021 Jun; 9(6):e1692. PubMed ID: 33960148
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Complex II deficiency--a case report and review of the literature.
Jain-Ghai S; Cameron JM; Al Maawali A; Blaser S; MacKay N; Robinson B; Raiman J
Am J Med Genet A; 2013 Feb; 161A(2):285-94. PubMed ID: 23322652
[TBL] [Abstract][Full Text] [Related]
13. The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ; Tarailo-Graovac M; Ghani A; Champion M; Deshpande C; Dursun A; Ozgul RK; Freisinger P; Garber I; Haack TB; Horvath R; Barić I; Husain RA; Kluijtmans LAJ; Kotzaeridou U; Morris AA; Ross CJ; Santra S; Smeitink J; Tarnopolsky M; Wortmann SB; Mayr JA; Brunner-Krainz M; Prokisch H; Wasserman WW; Wevers RA; Engelke UF; Rodenburg RJ; Ting TW; McFarland R; Taylor RW; Salvarinova R; van Karnebeek CDM
Mol Genet Metab; 2018 Jan; 123(1):28-42. PubMed ID: 29331171
[TBL] [Abstract][Full Text] [Related]
14. A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling.
Yakirevich E; Ali SM; Mega A; McMahon C; Brodsky AS; Ross JS; Allen J; Elvin JA; Safran H; Resnick MB
Am J Surg Pathol; 2015 Jun; 39(6):858-63. PubMed ID: 25724004
[TBL] [Abstract][Full Text] [Related]
15. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Wolfe LA; He M; Vockley J; Payne N; Rhead W; Hoppel C; Spector E; Gernert K; Gibson KM
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(0 3):S481-7. PubMed ID: 21088898
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.
Miettinen M; Killian JK; Wang ZF; Lasota J; Lau C; Jones L; Walker R; Pineda M; Zhu YJ; Kim SY; Helman L; Meltzer P
Am J Surg Pathol; 2013 Feb; 37(2):234-40. PubMed ID: 23282968
[TBL] [Abstract][Full Text] [Related]
18. MITOCHONDRIA: Succinate dehydrogenase subunit B-associated phaeochromocytoma and paraganglioma.
Dona M; Neijman K; Timmers HJLM
Int J Biochem Cell Biol; 2021 May; 134():105949. PubMed ID: 33609747
[TBL] [Abstract][Full Text] [Related]
19. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T; Kurolap A; Gonzaga-Jauregui C; Paperna T; Mory A; Wolf SE; ; Overton JD; Shuldiner AR; Saada A; Mandel H; Baris Feldman H
J Hum Genet; 2019 Jun; 64(6):589-595. PubMed ID: 30903008
[TBL] [Abstract][Full Text] [Related]
20. SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors.
Italiano A; Chen CL; Sung YS; Singer S; DeMatteo RP; LaQuaglia MP; Besmer P; Socci N; Antonescu CR
BMC Cancer; 2012 Sep; 12():408. PubMed ID: 22974104
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
