Publications

  1. Li J, Jaiswal MK, Chien JF, Kozlenkov A, Jung J, Zhou P, Gardashli M, Pregent LJ, Engelberg-Cook E, Dickson DW, Belzil VV, Mukamel EA, Dracheva S. Author Correction: Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation. Nat Commun. 2024 Nov 6; 15 (1):9588 Epub 2024 Nov 06
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  2. Engelberg-Cook E, Shah JS, Teixeira da Silva Hucke A, Vera-Garcia DV, Dagher JE, Donahue MH, Belzil VV, Oskarsson B. Prognostic Factors and Epidemiology of Amyotrophic Lateral Sclerosis in Southeastern United States. Mayo Clin Proc Innov Qual Outcomes. 2024 Oct; 8 (5):482-492 Epub 2024 Sept 17
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  3. Pineda SS, Lee H, Ulloa-Navas MJ, Linville RM, Garcia FJ, Galani K, Engelberg-Cook E, Castanedes MC, Fitzwalter BE, Pregent LJ, Gardashli ME, DeTure M, Vera-Garcia DV, Hucke ATS, Oskarsson BE, Murray ME, Dickson DW, Heiman M, Belzil VV, Kellis M. Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD. Cell. 2024 Apr 11; 187 (8):1971-1989.e16 Epub 2024 Mar 22
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  4. Li J, Jaiswal MK, Chien JF, Kozlenkov A, Jung J, Zhou P, Gardashli M, Pregent LJ, Engelberg-Cook E, Dickson DW, Belzil VV, Mukamel EA, Dracheva S. Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation. Nat Commun. 2023 Sep 15; 14 (1):5714 Epub 2023 Sept 15
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  5. Moore S, Alsop E, Lorenzini I, Starr A, Rabichow BE, Mendez E, Levy JL, Burciu C, Reiman R, Chew J, Belzil VV, Dickson D, Robertson J, Staats KA, Ichida JK, Petrucelli L, Van Keuren-Jensen K, Sattler R. Correction to: ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD. Acta Neuropathol. 2019 Nov; 138 (5):883-884
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  6. Moore S, Alsop E, Lorenzini I, Starr A, Rabichow BE, Mendez E, Levy JL, Burciu C, Reiman R, Chew J, Belzil VV, W Dickson D, Robertson J, Staats KA, Ichida JK, Petrucelli L, Van Keuren-Jensen K, Sattler R. ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD. Acta Neuropathol. 2019 Jul; 138 (1):49-65 Epub 2019 Apr 03
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  7. Ebbert MTW, Jensen TD, Jansen-West K, Sens JP, Reddy JS, Ridge PG, Kauwe JSK, Belzil V, Pregent L, Carrasquillo MM, Keene D, Larson E, Crane P, Asmann YW, Ertekin-Taner N, Younkin SG, Ross OA, Rademakers R, Petrucelli L, Fryer JD. Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight. Genome Biol. 2019 May 20; 20 (1):97
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  8. Ebbert MTW, Ross CA, Pregent LJ, Lank RJ, Zhang C, Katzman RB, Jansen-West K, Song Y, da Rocha EL, Palmucci C, Desaro P, Robertson AE, Caputo AM, Dickson DW, Boylan KB, Rademakers R, Ordog T, Li H, Belzil VV. Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease. Acta Neuropathol. 2017 Nov; 134(5):715-728. Epub 2017 Aug 14.
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  9. Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, Tabassian LJ, Lee CW, Yue M, Tong J, Song Y, Castanedes-Casey M, Rousseau L, Phillips V, Dickson DW, Rademakers R, Fryer JD, Rush BK, Pedraza O, Caputo AM, Desaro P, Palmucci C, Robertson A, Heckman MG, Diehl NN, Wiggs E, Tierney M, Braun L, Farren J, Lacomis D, Ladha S, Fournier CN, McCluskey LF, Elman LB, Toledo JB, McBride JD, Tiloca C, Morelli C, Poletti B, Solca F, Prelle A, Wuu J, Jockel-Balsarotti J, Rigo F, Ambrose C, Datta A, Yang W, Raitcheva D, Antognetti G, McCampbell A, Van Swieten JC, Miller BL, Boxer AL, Brown RH, Bowser R, Miller TM, Trojanowski JQ, Grossman M, Berry JD, Hu WT, Ratti A, Traynor BJ, Disney MD, Benatar M, Silani V, Glass JD, Floeter MK, Rothstein JD, Boylan KB, Petrucelli L. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Sci Transl Med. 2017 Mar 29; 9 (383)
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  10. Belzil VV, Katzman RB, Petrucelli L. ALS and FTD: an epigenetic perspective. Acta Neuropathol. 2016 Oct; 132 (4):487-502 Epub 2016 June 09
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  11. Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science. 2016 Aug 12; 353 (6300):708-12
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  12. Esanov R, Belle KC, van Blitterswijk M, Belzil VV, Rademakers R, Dickson DW, Petrucelli L, Boylan KB, Dykxhoorn DM, Wuu J, Benatar M, Wahlestedt C, Zeier Z. C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Exp Neurol. 2016 Mar; 277:171-177 Epub 2015 Dec 31
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  13. Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, Baker MC, Perkerson RB, van Blitterswijk M, Stetler CT, Rademakers R, Link CD, Dickson DW, Boylan KB, Li H, Petrucelli L. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nat Neurosci. 2015 Aug; 18 (8):1175-82 Epub 2015 July 20
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  14. Kaneb HM, Folkmann AW, Belzil VV, Jao LE, Leblond CS, Girard SL, Daoud H, Noreau A, Rochefort D, Hince P, Szuto A, Levert A, Vidal S, Andre-Guimont C, Camu W, Bouchard JP, Dupre N, Rouleau GA, Wente SR, Dion PA. Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. Hum Mol Genet. 2015 Mar 1; 24 (5):1363-73 Epub 2014 Oct 24
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  15. Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L. Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients. Brain Res. 2014 Oct 10; 1584:15-21. Epub 2014 Feb 12.
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  16. Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, Whitelaw E, Ash PE, DeTure M, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathol. 2014 Oct; 128 (4):505-24 Epub 2014 Aug 31
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  17. Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, Cudkowicz ME, Boeve BF, Dickson D, Floeter MK, Traynor BJ, Morelli C, Ratti A, Silani V, Rademakers R, Brown RH, Rothstein JD, Boylan KB, Petrucelli L, Disney MD. Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron. 2014 Sep 3; 83 (5):1043-50 Epub 2014 Aug 14
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  18. Gendron TF, Belzil VV, Zhang YJ, Petrucelli L. Mechanisms of toxicity in C9FTLD/ALS. Acta Neuropathol. 2014 Mar; 127 (3):359-76 Epub 2014 Jan 07
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  19. Belzil VV, Petrucelli L. Epigenetic modifications of the C9ORF72 gene: A potential biomarker of disease? Future Neurology. 2014; 9(2):123-6.
  20. Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathol. 2013 Dec; 126 (6):895-905 Epub 2013 Oct 29
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  21. Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S, JaCALS. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am J Hum Genet. 2013 Nov 7; 93 (5):900-5 Epub 2013 Oct 10
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  22. Belzil VV, Gendron TF, Petrucelli L. RNA-mediated toxicity in neurodegenerative disease. Mol Cell Neurosci. 2013 Sep; 56:406-19 Epub 2012 Dec 29
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  23. Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA. Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. Eur J Hum Genet. 2013 Feb; 21 (2):237-9 Epub 2012 June 27
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  24. Daoud H, Suhail H, Sabbagh M, Belzil V, Szuto A, Dionne-Laporte A, Khoris J, Camu W, Salachas F, Meininger V, Mathieu J, Strong M, Dion PA, Rouleau GA. C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia. Arch Neurol. 2012 Sep; 69 (9):1159-63
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  25. 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. Exome sequencing identifies FUS mutations as a cause of essential tremor. Am J Hum Genet. 2012 Aug 10; 91(2):313-9. Epub 2012 Aug 02.
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  26. Belzil VV, Andre-Guimont C, Atallah MR, Daoud H, Dupre N, Bouchard JP, Camu W, Dion PA, Rouleau GA. Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Aug; 33 (8):1845.e7-9 Epub 2012 Feb 22
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  27. Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology. 2012 May 8; 78 (19):1519-26 Epub 2012 Apr 25
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  28. Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA. Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis. Arch Neurol. 2012 May; 69 (5):653-6
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  29. Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA. Exome sequencing reveals SPG11 mutations causing juvenile ALS. Neurobiol Aging. 2012 Apr; 33 (4):839.e5-9 Epub 2011 Dec 10
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  30. Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupre N, Dion PA, Rouleau GA. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol. 2011 Jun; 68 (6):739-42
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  31. Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA. Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis. Arch Neurol. 2011 May; 68 (5):587-93 Epub 2011 Jan 10
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  32. Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupre N, Camu W, Dion PA, Rouleau GA. Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis. Neurobiol Aging. 2011 Mar; 32 (3):555.e13-4 Epub 2010 Nov 11
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  33. Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupre N, Camu W, Dion PA, Rouleau GA. Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis. J Hum Genet. 2011 Mar; 56 (3):247-9 Epub 2010 Dec 16
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  34. Belzil VV, Daoud H, St-Onge J, Desjarlais A, Bouchard JP, Dupre N, Lacomblez L, Salachas F, Pradat PF, Meininger V, Camu W, Dion PA, Rouleau GA. Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011 Mar; 12 (2):113-7 Epub 2011 Jan 24
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  35. Camdessanche JP, Belzil VV, Jousserand G, Rouleau GA, Creac'h C, Convers P, Antoine JC. Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation. Orphanet J Rare Dis. 2011 Feb 5; 6:4 Epub 2011 Feb 05
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  36. Valdmanis PN, Dupre N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA. A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain. 2011 Feb; 134 (Pt 2):602-7 Epub 2010 Nov 28
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  37. Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA. A mutation that creates a pseudoexon in SOD1 causes familial ALS. Ann Hum Genet. 2009 Nov; 73 (Pt 6):652-7
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  38. Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA, S2D team. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology. 2009 Oct 13; 73 (15):1176-9 Epub 2009 Sept 09
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