130 related articles for article (PubMed ID: 23382305)
1. Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.
Stojanović V; Doronjski A
J Pediatr Endocrinol Metab; 2013; 26(1-2):151-4. PubMed ID: 23382305
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB; Rodenburg RJ; Jonckheere A; de Vries MC; Huizing M; Heldt K; van den Heuvel LP; Wendel U; Kluijtmans LA; Engelke UF; Wevers RA; Smeitink JA; Morava E
Brain; 2009 Jan; 132(Pt 1):136-46. PubMed ID: 19015156
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
Wortmann SB; Duran M; Anikster Y; Barth PG; Sperl W; Zschocke J; Morava E; Wevers RA
J Inherit Metab Dis; 2013 Nov; 36(6):923-8. PubMed ID: 23296368
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
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. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
Davey KM; Parboosingh JS; McLeod DR; Chan A; Casey R; Ferreira P; Snyder FF; Bridge PJ; Bernier FP
J Med Genet; 2006 May; 43(5):385-93. PubMed ID: 16055927
[TBL] [Abstract][Full Text] [Related]
10. Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.
Tort F; Del Toro M; Lissens W; Montoya J; Fernàndez-Burriel M; Font A; Buján N; Navarro-Sastre A; López-Gallardo E; Arranz JA; Riudor E; Briones P; Ribes A
Clin Genet; 2011 Sep; 80(3):297-300. PubMed ID: 21815885
[No Abstract] [Full Text] [Related]
11. 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]
12. Delayed appearance of 3-methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis.
Baban A; Adorisio R; Corica B; Rizzo C; Calì F; Semeraro M; Taurisano R; Magliozzi M; Carrozzo R; Parisi F; Dallapiccola B; Vaz FM; Drago F; Dionisi-Vici C
Am J Med Genet A; 2020 Jan; 182(1):64-70. PubMed ID: 31729175
[TBL] [Abstract][Full Text] [Related]
13. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
Wortmann SB; Kluijtmans LA; Rodenburg RJ; Sass JO; Nouws J; van Kaauwen EP; Kleefstra T; Tranebjaerg L; de Vries MC; Isohanni P; Walter K; Alkuraya FS; Smuts I; Reinecke CJ; van der Westhuizen FH; Thorburn D; Smeitink JA; Morava E; Wevers RA
J Inherit Metab Dis; 2013 Nov; 36(6):913-21. PubMed ID: 23355087
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Ojala T; Polinati P; Manninen T; Hiippala A; Rajantie J; Karikoski R; Suomalainen A; Tyni T
Pediatr Res; 2012 Oct; 72(4):432-7. PubMed ID: 22797137
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Coincidence of 3-methylglutaconic aciduria and duplication 5q - a case report and literature review.
Zapolnik P; Sykut-Cegielska J; Pyrkosz A
Acta Biochim Pol; 2020 Jun; 67(2):263-266. PubMed ID: 32511901
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA; Staretz-Chacham O; Dayan D; Stephen J; Weech A; Damseh N; Pri Chen H; Edvardson S; Mazaheri S; Saada A; ; Hershkovitz E; Shaag A; Huizing M; Abu-Libdeh B; Gahl WA; Azem A; Anikster Y; Vilboux T; Elpeleg O; Malicdan MC
Clin Genet; 2017 May; 91(5):690-696. PubMed ID: 27573165
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
