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4. Mutation in the AGK gene in two siblings with unusual Sengers syndrome. Allali S; Dorboz I; Samaan S; Slama A; Rambaud C; Boespflug-Tanguy O; Sarret C Metab Brain Dis; 2017 Dec; 32(6):2149-2154. PubMed ID: 28868593 [TBL] [Abstract][Full Text] [Related]
5. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. Kang Y; Stroud DA; Baker MJ; De Souza DP; Frazier AE; Liem M; Tull D; Mathivanan S; McConville MJ; Thorburn DR; Ryan MT; Stojanovski D Mol Cell; 2017 Aug; 67(3):457-470.e5. PubMed ID: 28712726 [TBL] [Abstract][Full Text] [Related]
7. A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy. Fan P; Yang KQ; Han B; Kong D; Yin WH; Li JH; Yang ZX; Niu LL; Fu CS; Rong CZ; Lin YH; Wang H; Zhou XL; Gao LG; Qin XC; Tian T Pediatr Res; 2023 Aug; 94(2):683-690. PubMed ID: 36759750 [TBL] [Abstract][Full Text] [Related]
8. Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in Wang B; Du Z; Shan G; Yan C; Zhang VW; Li Z Front Pediatr; 2021; 9():639687. PubMed ID: 34164355 [TBL] [Abstract][Full Text] [Related]
9. Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria. Vukotic M; Nolte H; König T; Saita S; Ananjew M; Krüger M; Tatsuta T; Langer T Mol Cell; 2017 Aug; 67(3):471-483.e7. PubMed ID: 28712724 [TBL] [Abstract][Full Text] [Related]
10. Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Beck DB; Cusmano-Ozog K; Andescavage N; Leon E Transl Sci Rare Dis; 2018 Apr; 3(1):45-48. PubMed ID: 29682452 [TBL] [Abstract][Full Text] [Related]
12. Long term follow-up in two siblings with Sengers syndrome: Case report. Panicucci C; Schiaffino MC; Nesti C; Derchi M; Trocchio G; Severino M; Stagnaro N; Priolo E; Zara F; Santorelli FM; Bruno C Ital J Pediatr; 2022 Oct; 48(1):180. PubMed ID: 36253788 [TBL] [Abstract][Full Text] [Related]
13. Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. Barbosa-Gouveia S; Vázquez-Mosquera ME; Gonzalez-Vioque E; Hermida-Ameijeiras Á; Valverde LL; Armstrong-Moron J; Fons-Estupiña MDC; Wintjes LT; Kappen A; Rodenburg RJ; Couce ML Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948281 [TBL] [Abstract][Full Text] [Related]
14. A case report of children of the same family presenting with congenital cataract- as part of a rare genetic disorder-Sengers Syndrome. Prabu RV; Priyambada P; Ranjini H; Wasnik RB Indian J Ophthalmol; 2020 Nov; 68(11):2567-2569. PubMed ID: 33120694 [TBL] [Abstract][Full Text] [Related]
15. Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report. Fnon NF; Hassan HH; Ali HM; Sobh ZK Cardiovasc Pathol; 2021; 54():107371. PubMed ID: 34274418 [TBL] [Abstract][Full Text] [Related]
16. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Morava E; Sengers R; Ter Laak H; Van Den Heuvel L; Janssen A; Trijbels F; Cruysberg H; Boelen C; Smeitink J Eur J Pediatr; 2004 Aug; 163(8):467-71. PubMed ID: 15168109 [TBL] [Abstract][Full Text] [Related]
17. The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism. Jackson TD; Hock DH; Fujihara KM; Palmer CS; Frazier AE; Low YC; Kang Y; Ang CS; Clemons NJ; Thorburn DR; Stroud DA; Stojanovski D Mol Biol Cell; 2021 Mar; 32(6):475-491. PubMed ID: 33476211 [TBL] [Abstract][Full Text] [Related]
18. AGK regulates the progression to NASH by affecting mitochondria complex I function. Ding N; Wang K; Jiang H; Yang M; Zhang L; Fan X; Zou Q; Yu J; Dong H; Cheng S; Xu Y; Liu J Theranostics; 2022; 12(7):3237-3250. PubMed ID: 35547757 [No Abstract] [Full Text] [Related]
19. Neuroradiologic findings in Sengers syndrome. Perry MS; Sladky JT Pediatr Neurol; 2008 Aug; 39(2):113-5. PubMed ID: 18639755 [TBL] [Abstract][Full Text] [Related]
20. Features of a syndrome with congenital cataract and hypertrophic cardiomyopathy. Cruysberg JR; Sengers RC; Pinckers A; Kubat K; van Haelst UJ Am J Ophthalmol; 1986 Dec; 102(6):740-9. PubMed ID: 3789054 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]