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Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ, Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH, Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA, Michaud JL, Goldstein DB. Ruzzo EK, et al. Among authors: mitchell ga. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Gauthier J, Ouled Amar Bencheikh B, Hamdan FF, Harrison SM, Baker LA, Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. Gauthier J, et al. Among authors: mitchell ga. Eur J Hum Genet. 2015 Sep;23(9):1266-8. doi: 10.1038/ejhg.2014.256. Epub 2014 Nov 19. Eur J Hum Genet. 2015. PMID: 25407000 Free PMC article.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL. Lee JR, et al. Among authors: mitchell ga. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
A treatable new cause of chorea: beta-ketothiolase deficiency.
Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA. Buhaş D, et al. Among authors: mitchell ga. Mov Disord. 2013 Jul;28(8):1054-6. doi: 10.1002/mds.25538. Epub 2013 Jul 1. Mov Disord. 2013. PMID: 23818432 No abstract available.
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.
Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, Boycott KM, Shoubridge EA, Mitchell JJ; Care4Rare Canada Consortium; Michaud JL, Majewski J. Tetreault M, et al. Among authors: mitchell jj, mitchell ga. Hum Genet. 2015 Sep;134(9):981-91. doi: 10.1007/s00439-015-1577-y. Epub 2015 Jun 23. Hum Genet. 2015. PMID: 26099313
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Beauregard-Lacroix E, Salian S, Kim H, Ehresmann S, DʹAmours G, Gauthier J, Saillour V, Bernard G, Mitchell GA, Soucy JF, Michaud JL, Campeau PM. Beauregard-Lacroix E, et al. Among authors: mitchell ga. Eur J Hum Genet. 2020 Apr;28(4):461-468. doi: 10.1038/s41431-019-0539-6. Epub 2019 Nov 6. Eur J Hum Genet. 2020. PMID: 31695177 Free PMC article.
263 results