264 related articles for article (PubMed ID: 29226520)
21. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Maalej M; Kammoun T; Alila-Fersi O; Kharrat M; Ammar M; Felhi R; Mkaouar-Rebai E; Keskes L; Hachicha M; Fakhfakh F
Biochem Biophys Res Commun; 2018 Mar; 497(4):1043-1048. PubMed ID: 29481804
[TBL] [Abstract][Full Text] [Related]
22. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.
Shchelochkov OA; Li FY; Wang J; Zhan H; Towbin JA; Jefferies JL; Wong LJ; Scaglia F
Mol Genet Metab; 2010; 101(2-3):282-5. PubMed ID: 20728387
[TBL] [Abstract][Full Text] [Related]
23. Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.
Mandel H; Saita S; Edvardson S; Jalas C; Shaag A; Goldsher D; Vlodavsky E; Langer T; Elpeleg O
J Med Genet; 2016 Oct; 53(10):690-6. PubMed ID: 27208207
[TBL] [Abstract][Full Text] [Related]
24. Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.
Napoli E; Tassone F; Wong S; Angkustsiri K; Simon TJ; Song G; Giulivi C
J Biol Chem; 2015 Sep; 290(38):23240-53. PubMed ID: 26221035
[TBL] [Abstract][Full Text] [Related]
25. Quantitative metabolic flux analysis reveals an unconventional pathway of fatty acid synthesis in cancer cells deficient for the mitochondrial citrate transport protein.
Jiang L; Boufersaoui A; Yang C; Ko B; Rakheja D; Guevara G; Hu Z; DeBerardinis RJ
Metab Eng; 2017 Sep; 43(Pt B):198-207. PubMed ID: 27856334
[TBL] [Abstract][Full Text] [Related]
26. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission.
Chaouch A; Porcelli V; Cox D; Edvardson S; Scarcia P; De Grassi A; Pierri CL; Cossins J; Laval SH; Griffin H; Müller JS; Evangelista T; Töpf A; Abicht A; Huebner A; von der Hagen M; Bushby K; Straub V; Horvath R; Elpeleg O; Palace J; Senderek J; Beeson D; Palmieri L; Lochmüller H
J Neuromuscul Dis; 2014; 1(1):75-90. PubMed ID: 26870663
[TBL] [Abstract][Full Text] [Related]
27. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A; Antonicka H; Lalonde E; Nishimura T; Sasarman F; Brown GK; Brown RM; Majewski J; Shoubridge EA
Am J Hum Genet; 2012 Oct; 91(4):737-43. PubMed ID: 23022098
[TBL] [Abstract][Full Text] [Related]
28. Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
Simon MT; Eftekharian SS; Stover AE; Osborne AF; Braffman BH; Chang RC; Wang RY; Steenari MR; Tang S; Hwu PW; Taft RJ; Benke PJ; Abdenur JE
Mol Genet Metab; 2019 Jan; 126(1):53-63. PubMed ID: 30473481
[TBL] [Abstract][Full Text] [Related]
29. Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM; Venkatesh S; Pandey AK; Marshall CR; Hazrati LN; Blaser S; Ahmed S; Cameron J; Singh K; Ray PN; Suzuki CK; Yoon G
Hum Mol Genet; 2019 Jan; 28(2):290-306. PubMed ID: 30304514
[TBL] [Abstract][Full Text] [Related]
30. A multiomics approach to understanding pathology of Combined D,L-2- Hydroxyglutaric Aciduria and phenylbutyrate as potential treatment.
Phua YL; D'Annibale OM; Karunanidhi A; Mohsen AW; Kirmse B; Dobrowolski SF; Vockley J
bioRxiv; 2023 Feb; ():. PubMed ID: 36778323
[TBL] [Abstract][Full Text] [Related]
31. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X; Ghezzi D; Johnson MA; Biagosch CA; Shamseldin HE; Haack TB; Reyes A; Tsukikawa M; Sheldon CA; Srinivasan S; Gorza M; Kremer LS; Wieland T; Strom TM; Polyak E; Place E; Consugar M; Ostrovsky J; Vidoni S; Robinson AJ; Wong LJ; Sondheimer N; Salih MA; Al-Jishi E; Raab CP; Bean C; Furlan F; Parini R; Lamperti C; Mayr JA; Konstantopoulou V; Huemer M; Pierce EA; Meitinger T; Freisinger P; Sperl W; Prokisch H; Alkuraya FS; Falk MJ; Zeviani M
Am J Hum Genet; 2013 Sep; 93(3):482-95. PubMed ID: 23993194
[TBL] [Abstract][Full Text] [Related]
32. Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
Meng L; Donti T; Xia F; Niu Z; Al Shamsi A; Hertecant J; Al-Jasmi F; Gibson JB; Nagakura H; Zhang J; He W; Eng C; Yang Y; Elsea SH
Am J Med Genet A; 2017 Feb; 173(2):460-470. PubMed ID: 27860360
[TBL] [Abstract][Full Text] [Related]
33. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.
Alston CL; Howard C; Oláhová M; Hardy SA; He L; Murray PG; O'Sullivan S; Doherty G; Shield JP; Hargreaves IP; Monavari AA; Knerr I; McCarthy P; Morris AA; Thorburn DR; Prokisch H; Clayton PE; McFarland R; Hughes J; Crushell E; Taylor RW
J Med Genet; 2016 Sep; 53(9):634-41. PubMed ID: 27091925
[TBL] [Abstract][Full Text] [Related]
34. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel T; Yoon WH; Garone C; Gu S; Coban-Akdemir Z; Eldomery MK; Posey JE; Jhangiani SN; Rosenfeld JA; Cho MT; Fox S; Withers M; Brooks SM; Chiang T; Duraine L; Erdin S; Yuan B; Shao Y; Moussallem E; Lamperti C; Donati MA; Smith JD; McLaughlin HM; Eng CM; Walkiewicz M; Xia F; Pippucci T; Magini P; Seri M; Zeviani M; Hirano M; Hunter JV; Srour M; Zanigni S; Lewis RA; Muzny DM; Lotze TE; Boerwinkle E; ; ; Gibbs RA; Hickey SE; Graham BH; Yang Y; Buhas D; Martin DM; Potocki L; Graziano C; Bellen HJ; Lupski JR
Am J Hum Genet; 2016 Oct; 99(4):831-845. PubMed ID: 27640307
[TBL] [Abstract][Full Text] [Related]
35. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Morava E; Rodenburg RJ; Hol F; de Vries M; Janssen A; van den Heuvel L; Nijtmans L; Smeitink J
Am J Med Genet A; 2006 Apr; 140(8):863-8. PubMed ID: 16532470
[TBL] [Abstract][Full Text] [Related]
36. Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
Catania A; Legati A; Peverelli L; Nanetti L; Marchet S; Zanetti N; Lamperti C; Ghezzi D
Am J Med Genet A; 2019 May; 179(5):827-831. PubMed ID: 30773800
[TBL] [Abstract][Full Text] [Related]
37. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B; Barros MH; Sanna-Cherchi S; Emmanuele V; Akman HO; Ferreiro-Barros CC; Horvath R; Tadesse S; El Gharaby N; DiMauro S; De Vivo DC; Shokr A; Hirano M; Quinzii CM
Am J Hum Genet; 2012 Oct; 91(4):729-36. PubMed ID: 23022099
[TBL] [Abstract][Full Text] [Related]
38. Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Hartmannová H; Piherová L; Tauchmannová K; Kidd K; Acott PD; Crocker JF; Oussedik Y; Mallet M; Hodaňová K; Stránecký V; Přistoupilová A; Barešová V; Jedličková I; Živná M; Sovová J; Hůlková H; Robins V; Vrbacký M; Pecina P; Kaplanová V; Houštěk J; Mráček T; Thibeault Y; Bleyer AJ; Kmoch S
Hum Mol Genet; 2016 Sep; 25(18):4062-4079. PubMed ID: 27466185
[TBL] [Abstract][Full Text] [Related]
39. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N; Yano S; Sakai C; Hatakeyama H; Matsushima Y; Shiina M; Watanabe Y; Bartley J; Abdenur JE; Wang RY; Chang R; Tsurusaki Y; Doi H; Nakashima M; Saitsu H; Ogata K; Goto Y; Matsumoto N
Hum Mutat; 2013 Mar; 34(3):446-52. PubMed ID: 23281071
[TBL] [Abstract][Full Text] [Related]
40. A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Invernizzi F; Tigano M; Dallabona C; Donnini C; Ferrero I; Cremonte M; Ghezzi D; Lamperti C; Zeviani M
Hum Mutat; 2013 Dec; 34(12):1619-22. PubMed ID: 24014394
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
