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Page 1
Neuropathologic features of pontocerebellar hypoplasia type 6.
Joseph JT, Innes AM, Smith AC, Vanstone MR, Schwartzentruber JA, Bulman DE, Majewski J, Daza RA, Hevner RF, Michaud J, Boycott KM; FORGE Canada Consortium. Joseph JT, et al. Among authors: michaud j. J Neuropathol Exp Neurol. 2014 Nov;73(11):1009-25. doi: 10.1097/NEN.0000000000000123. J Neuropathol Exp Neurol. 2014. PMID: 25289895
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.
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.
Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome.
Grynspan D, Michaud J, Nikkel SM, Creede E, Staines WA. Grynspan D, et al. Among authors: michaud j. Pediatr Dev Pathol. 2013 Jul-Aug;16(4):318-20. doi: 10.2350/12-09-1252-LET.1. Epub 2013 May 20. Pediatr Dev Pathol. 2013. PMID: 23688395 No abstract available.
844 results