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Page 1
Normal oxidative phosphorylation in intestinal smooth muscle of childhood chronic intestinal pseudo-obstruction.
Galmiche L, Jaubert F, Sauvat F, Sarnacki S, Goulet O, Assouline Z, Vedrenne V, Lebre AS, Boddaert N, Brousse N, Chrétien D, Munnich A, Rötig A. Galmiche L, et al. Among authors: assouline z. Neurogastroenterol Motil. 2011 Jan;23(1):24-9, e1. doi: 10.1111/j.1365-2982.2010.01595.x. Epub 2010 Sep 14. Neurogastroenterol Motil. 2011. PMID: 20879992
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z, Jambou M, Rio M, Bole-Feysot C, de Lonlay P, Barnerias C, Desguerre I, Bonnemains C, Guillermet C, Steffann J, Munnich A, Bonnefont JP, Rötig A, Lebre AS. Assouline Z, et al. Biochim Biophys Acta. 2012 Jun;1822(6):1062-9. doi: 10.1016/j.bbadis.2012.01.013. Epub 2012 Feb 3. Biochim Biophys Acta. 2012. PMID: 22326555 Free article.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Metodiev MD, Thompson K, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Metodiev MD, et al. Among authors: assouline z. Am J Hum Genet. 2016 May 5;98(5):993-1000. doi: 10.1016/j.ajhg.2016.03.010. Epub 2016 Apr 28. Am J Hum Genet. 2016. PMID: 27132592 Free PMC article.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
Metodiev MD, Thompson K, Alston CL, Morris AA, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Metodiev MD, et al. Among authors: assouline z. Am J Hum Genet. 2016 Jul 7;99(1):246. doi: 10.1016/j.ajhg.2016.06.013. Am J Hum Genet. 2016. PMID: 27392079 Free PMC article. No abstract available.
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia.
Sperelakis-Beedham B, Gitiaux C, Rajaoba M, Magen M, Derive N, Chansard J, de Sainte Agathe JM, Maurin ML, Assouline Z, Barnerias C, Desguerre I, Steffann J, Barcia G. Sperelakis-Beedham B, et al. Among authors: assouline z. Eur J Hum Genet. 2024 Nov 4. doi: 10.1038/s41431-024-01728-2. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39496895
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: assouline z. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Torraco A, Nasca A, Verrigni D, Pennisi A, Zaki MS, Olivieri G, Assouline Z, Martinelli D, Maroofian R, Rizza T, Di Nottia M, Invernizzi F, Lamantea E, Longo D, Houlden H, Prokisch H, Rötig A, Dionisi-Vici C, Bertini E, Ghezzi D, Carrozzo R, Diodato D. Torraco A, et al. Among authors: assouline z. Hum Mutat. 2021 Jun;42(6):699-710. doi: 10.1002/humu.24195. Epub 2021 Mar 25. Hum Mutat. 2021. PMID: 33715266
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: assouline z. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Biallelic IARS2 mutations presenting as sideroblastic anemia.
Barcia G, Pandithan D, Ruzzenente B, Assouline Z, Pennisi A, Ormieres C, Besmond C, Roux CJ, Boddaert N, Desguerre I, Thorburn DR, Bratkovic D, Munnich A, Bonnefont JP, Rötig A, Steffann J. Barcia G, et al. Among authors: assouline z. Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710. Haematologica. 2021. PMID: 33327715 Free PMC article.
44 results