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Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Estiar MA, et al. Among authors: spiegelman d. Mov Disord. 2021 Jul;36(7):1664-1675. doi: 10.1002/mds.28528. Epub 2021 Feb 17. Mov Disord. 2021. PMID: 33598982
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.
Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA. Kabashi E, et al. Among authors: spiegelman d. Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30. Nat Genet. 2008. PMID: 18372902
De novo truncating mutation in Kinesin 17 associated with schizophrenia.
Tarabeux J, Champagne N, Brustein E, Hamdan FF, Gauthier J, Lapointe M, Maios C, Piton A, Spiegelman D, Henrion E; Synapse to Disease Team; Millet B, Rapoport JL, Delisi LE, Joober R, Fathalli F, Fombonne E, Mottron L, Forget-Dubois N, Boivin M, Michaud JL, Lafrenière RG, Drapeau P, Krebs MO, Rouleau GA. Tarabeux J, et al. Among authors: spiegelman d. Biol Psychiatry. 2010 Oct 1;68(7):649-56. doi: 10.1016/j.biopsych.2010.04.018. Epub 2010 Jun 19. Biol Psychiatry. 2010. PMID: 20646681
A population genetic approach to mapping neurological disorder genes using deep resequencing.
Myers RA, Casals F, Gauthier J, Hamdan FF, Keebler J, Boyko AR, Bustamante CD, Piton AM, Spiegelman D, Henrion E, Zilversmit M, Hussin J, Quinlan J, Yang Y, Lafrenière RG, Griffing AR, Stone EA, Rouleau GA, Awadalla P. Myers RA, et al. Among authors: spiegelman d. PLoS Genet. 2011 Feb;7(2):e1001318. doi: 10.1371/journal.pgen.1001318. Epub 2011 Feb 24. PLoS Genet. 2011. PMID: 21383861 Free PMC article.
Increased exonic de novo mutation rate in individuals with schizophrenia.
Girard SL, Gauthier J, Noreau A, Xiong L, Zhou S, Jouan L, Dionne-Laporte A, Spiegelman D, Henrion E, Diallo O, Thibodeau P, Bachand I, Bao JY, Tong AH, Lin CH, Millet B, Jaafari N, Joober R, Dion PA, Lok S, Krebs MO, Rouleau GA. Girard SL, et al. Among authors: spiegelman d. Nat Genet. 2011 Jul 10;43(9):860-3. doi: 10.1038/ng.886. Nat Genet. 2011. PMID: 21743468
Exome sequencing identifies FUS mutations as a cause of essential tremor.
Merner ND, Girard SL, Catoire H, Bourassa CV, Belzil VV, Rivière JB, Hince P, Levert A, Dionne-Laporte A, Spiegelman D, Noreau A, Diab S, Szuto A, Fournier H, Raelson J, Belouchi M, Panisset M, Cossette P, Dupré N, Bernard G, Chouinard S, Dion PA, Rouleau GA. Merner ND, et al. Among authors: spiegelman d. Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863194 Free PMC article.
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA. Kahle KT, et al. Among authors: spiegelman d. EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13. EMBO Rep. 2014. PMID: 24928908 Free PMC article.
854 results