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Page 1
Nitrous oxide and vitamin B12 in sickle cell disease: Not a laughing situation.
Desprairies C, Imbard A, Koehl B, Lorrot M, Gaschignard J, Sommet J, Pichard S, Holvoet L, Faye A, Benkerrou M, Benoist JF, Schiff M. Desprairies C, et al. Among authors: imbard a. Mol Genet Metab Rep. 2020 Mar 17;23:100579. doi: 10.1016/j.ymgmr.2020.100579. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32195121 Free PMC article.
Maternal and fetal tyrosinemia type I.
Garcia Segarra N, Roche S, Imbard A, Benoist JF, Grenèche MO, Davit-Spraul A, Ogier de Baulny H. Garcia Segarra N, et al. Among authors: imbard a. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S507-10. doi: 10.1007/s10545-012-9569-8. Epub 2012 Dec 19. J Inherit Metab Dis. 2010. PMID: 23250512
Neural tube defects, folic acid and methylation.
Imbard A, Benoist JF, Blom HJ. Imbard A, et al. Int J Environ Res Public Health. 2013 Sep 17;10(9):4352-89. doi: 10.3390/ijerph10094352. Int J Environ Res Public Health. 2013. PMID: 24048206 Free PMC article. Review.
New spastic paraplegia phenotype associated to mutation of NFU1.
Tonduti D, Dorboz I, Imbard A, Slama A, Boutron A, Pichard S, Elmaleh M, Vallée L, Benoist JF, Ogier H, Boespflug-Tanguy O. Tonduti D, et al. Among authors: imbard a. Orphanet J Rare Dis. 2015 Feb 8;10:13. doi: 10.1186/s13023-015-0237-6. Orphanet J Rare Dis. 2015. PMID: 25758857 Free PMC article.
High homocysteine induces betaine depletion.
Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ. Imbard A, et al. Biosci Rep. 2015 Apr 28;35(4):e00222. doi: 10.1042/BSR20150094. Biosci Rep. 2015. PMID: 26182429 Free PMC article.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: imbard a. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. Guarani V, et al. Among authors: imbard a. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MCV, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M. Anikster Y, et al. Among authors: imbard a. Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132689 Free PMC article.
45 results