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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT. Lines MA, et al. Among authors: michaud j. Eur J Hum Genet. 2021 Nov;29(11):1719-1724. doi: 10.1038/s41431-021-00956-0. Epub 2021 Sep 6. Eur J Hum Genet. 2021. PMID: 34483339 Free PMC article.
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.
Vanstone JR, Smith AM, McBride S, Naas T, Holcik M, Antoun G, Harper ME, Michaud J, Sell E, Chakraborty P, Tetreault M; Care4Rare Consortium; Majewski J, Baird S, Boycott KM, Dyment DA, MacKenzie A, Lines MA. Vanstone JR, et al. Among authors: michaud j. Eur J Hum Genet. 2016 Jul;24(7):1084-8. doi: 10.1038/ejhg.2015.243. Epub 2015 Nov 25. Eur J Hum Genet. 2016. PMID: 26604000 Free PMC article.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Smith A, McBride S, Marcadier JL, Michaud J, Al-Dirbashi OY, Schwartzentruber J, Beaulieu CL, Katz SL; FORGE Canada Consortium; Majewski J, Bulman DE, Geraghty MT, Harper ME, Chakraborty P, Lines MA. Smith A, et al. Among authors: michaud j. JIMD Rep. 2016;30:73-79. doi: 10.1007/8904_2016_536. Epub 2016 Jun 16. JIMD Rep. 2016. PMID: 27306203 Free PMC article.
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium; Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA. Lines MA, et al. Among authors: michaud j. Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635952 Free PMC article.
SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease.
Deguise MO, Pileggi C, De Repentigny Y, Beauvais A, Tierney A, Chehade L, Michaud J, Llavero-Hurtado M, Lamont D, Atrih A, Wishart TM, Gillingwater TH, Schneider BL, Harper ME, Parson SH, Kothary R. Deguise MO, et al. Among authors: michaud j. Cell Mol Gastroenterol Hepatol. 2021;12(1):354-377.e3. doi: 10.1016/j.jcmgh.2021.01.019. Epub 2021 Feb 2. Cell Mol Gastroenterol Hepatol. 2021. PMID: 33545428 Free PMC article.
817 results