145 related articles for article (PubMed ID: 20335238)
1. Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.
Honzík T; Tesarová M; Mayr JA; Hansíková H; Jesina P; Bodamer O; Koch J; Magner M; Freisinger P; Huemer M; Kostková O; van Coster R; Kmoch S; Houstêk J; Sperl W; Zeman J
Arch Dis Child; 2010 Apr; 95(4):296-301. PubMed ID: 20335238
[TBL] [Abstract][Full Text] [Related]
2. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A; Stránecký V; Mayr JA; Tesarová M; Havlícková V; Paul J; Ivánek R; Kuss AW; Hansíková H; Kaplanová V; Vrbacký M; Hartmannová H; Nosková L; Honzík T; Drahota Z; Magner M; Hejzlarová K; Sperl W; Zeman J; Houstek J; Kmoch S
Nat Genet; 2008 Nov; 40(11):1288-90. PubMed ID: 18953340
[TBL] [Abstract][Full Text] [Related]
3. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.
Spiegel R; Khayat M; Shalev SA; Horovitz Y; Mandel H; Hershkovitz E; Barghuti F; Shaag A; Saada A; Korman SH; Elpeleg O; Yatsiv I
J Med Genet; 2011 Mar; 48(3):177-82. PubMed ID: 21147908
[TBL] [Abstract][Full Text] [Related]
4. Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Sperl W; Jesina P; Zeman J; Mayr JA; Demeirleir L; VanCoster R; Pícková A; Hansíková H; Houst'ková H; Krejcík Z; Koch J; Smet J; Muss W; Holme E; Houstek J
Neuromuscul Disord; 2006 Dec; 16(12):821-9. PubMed ID: 17052906
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy.
Atay Z; Bereket A; Turan S; Haliloglu B; Memisoglu A; Khayat M; Shalev SA; Spiegel R
Gene; 2013 Feb; 515(1):197-9. PubMed ID: 23235116
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients.
Catteruccia M; Verrigni D; Martinelli D; Torraco A; Agovino T; Bonafé L; D'Amico A; Donati MA; Adorisio R; Santorelli FM; Carrozzo R; Bertini E; Dionisi-Vici C
Mol Genet Metab; 2014 Mar; 111(3):353-359. PubMed ID: 24485043
[TBL] [Abstract][Full Text] [Related]
8. TMEM70 deficiency: long-term outcome of 48 patients.
Magner M; Dvorakova V; Tesarova M; Mazurova S; Hansikova H; Zahorec M; Brennerova K; Bzduch V; Spiegel R; Horovitz Y; Mandel H; Eminoğlu FT; Mayr JA; Koch J; Martinelli D; Bertini E; Konstantopoulou V; Smet J; Rahman S; Broomfield A; Stojanović V; Dionisi-Vici C; van Coster R; Morava E; Sperl W; Zeman J; Honzik T
J Inherit Metab Dis; 2015 May; 38(3):417-26. PubMed ID: 25326274
[TBL] [Abstract][Full Text] [Related]
9. Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.
Okhuijsen-Kroes EJ; Trijbels JM; Sengers RC; Mariman E; van den Heuvel LP; Wendel U; Koch G; Smeitink JA
Neuropediatrics; 2001 Aug; 32(4):183-90. PubMed ID: 11571698
[TBL] [Abstract][Full Text] [Related]
10. TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Staretz-Chacham O; Wormser O; Manor E; Birk OS; Ferreira CR
Am J Med Genet A; 2019 Jul; 179(7):1293-1298. PubMed ID: 30950220
[TBL] [Abstract][Full Text] [Related]
11. ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment.
Braczynski AK; Vlaho S; Müller K; Wittig I; Blank AE; Tews DS; Drott U; Kleinle S; Abicht A; Horvath R; Plate KH; Stenzel W; Goebel HH; Schulze A; Harter PN; Kieslich M; Mittelbronn M
Biomed Res Int; 2015; 2015():462592. PubMed ID: 26550569
[TBL] [Abstract][Full Text] [Related]
12. Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Cameron JM; Levandovskiy V; Mackay N; Ackerley C; Chitayat D; Raiman J; Halliday WH; Schulze A; Robinson BH
Mitochondrion; 2011 Jan; 11(1):191-9. PubMed ID: 20920610
[TBL] [Abstract][Full Text] [Related]
13. Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.
Mayr JA; Havlícková V; Zimmermann F; Magler I; Kaplanová V; Jesina P; Pecinová A; Nusková H; Koch J; Sperl W; Houstek J
Hum Mol Genet; 2010 Sep; 19(17):3430-9. PubMed ID: 20566710
[TBL] [Abstract][Full Text] [Related]
14. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
Torraco A; Verrigni D; Rizza T; Meschini MC; Vazquez-Memije ME; Martinelli D; Bianchi M; Piemonte F; Dionisi-Vici C; Santorelli FM; Bertini E; Carrozzo R
Neurogenetics; 2012 Nov; 13(4):375-86. PubMed ID: 22986587
[TBL] [Abstract][Full Text] [Related]
15. Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy.
Kollberg G; Tulinius M; Melberg A; Darin N; Andersen O; Holmgren D; Oldfors A; Holme E
Brain; 2009 Aug; 132(Pt 8):2170-9. PubMed ID: 19567699
[TBL] [Abstract][Full Text] [Related]
16. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Mackay L; Gijavanekar C; Streff H; Price JF; Elsea SH; Scaglia F
Am J Med Genet A; 2023 May; 191(5):1366-1372. PubMed ID: 36751706
[TBL] [Abstract][Full Text] [Related]
17. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R; Dionisi-Vici C; Steuerwald U; Lucioli S; Deodato F; Di Giandomenico S; Bertini E; Franke B; Kluijtmans LA; Meschini MC; Rizzo C; Piemonte F; Rodenburg R; Santer R; Santorelli FM; van Rooij A; Vermunt-de Koning D; Morava E; Wevers RA
Brain; 2007 Mar; 130(Pt 3):862-74. PubMed ID: 17301081
[TBL] [Abstract][Full Text] [Related]
18. Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.
Moslemi AR; Darin N; Tulinius M; Wiklund LM; Holme E; Oldfors A
Neuropediatrics; 2008 Feb; 39(1):24-8. PubMed ID: 18504678
[TBL] [Abstract][Full Text] [Related]
19. TMEM70 protein - a novel ancillary factor of mammalian ATP synthase.
Houstek J; Kmoch S; Zeman J
Biochim Biophys Acta; 2009 May; 1787(5):529-32. PubMed ID: 19103153
[TBL] [Abstract][Full Text] [Related]
20. Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation.
Havlíčková Karbanová V; Cížková Vrbacká A; Hejzlarová K; Nůsková H; Stránecký V; Potocká A; Kmoch S; Houštěk J
Biochim Biophys Acta; 2012 Jul; 1817(7):1037-43. PubMed ID: 22433607
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
