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Items: 38

1.

An Epigenetic Spin to ALS and FTD.

Ebbert MTW, Lank RJ, Belzil VV.

Adv Neurobiol. 2018;20:1-29. doi: 10.1007/978-3-319-89689-2_1. Review.

PMID:
29916014
2.

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease.

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.

Acta Neuropathol. 2017 Nov;134(5):715-728. doi: 10.1007/s00401-017-1760-4. Epub 2017 Aug 14.

3.

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.

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.

Sci Transl Med. 2017 Mar 29;9(383). pii: eaai7866. doi: 10.1126/scitranslmed.aai7866.

4.

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.

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.

Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791.

5.

ALS and FTD: an epigenetic perspective.

Belzil VV, Katzman RB, Petrucelli L.

Acta Neuropathol. 2016 Oct;132(4):487-502. doi: 10.1007/s00401-016-1587-4. Epub 2016 Jun 9. Review.

6.

C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells.

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.

Exp Neurol. 2016 Mar;277:171-177. doi: 10.1016/j.expneurol.2015.12.022. Epub 2015 Dec 31.

7.

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

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.

Nat Neurosci. 2015 Aug;18(8):1175-82. doi: 10.1038/nn.4065. Epub 2015 Jul 20.

8.

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

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, André-Guimont C, Camu W, Bouchard JP, Dupré N, Rouleau GA, Wente SR, Dion PA.

Hum Mol Genet. 2015 Mar 1;24(5):1363-73. doi: 10.1093/hmg/ddu545. Epub 2014 Oct 24.

9.

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS.

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.

Neuron. 2014 Oct 1;84(1):239. doi: 10.1016/j.neuron.2014.09.019. Epub 2014 Oct 1. No abstract available.

10.

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress.

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.

Acta Neuropathol. 2014 Oct;128(4):505-24. doi: 10.1007/s00401-014-1336-5. Epub 2014 Aug 31.

11.

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

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.

Neuron. 2014 Sep 3;83(5):1043-50. doi: 10.1016/j.neuron.2014.07.041. Epub 2014 Aug 14. Erratum in: Neuron. 2014 Oct 1;84(1):239.

12.

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients.

Belzil VV, Bauer PO, Gendron TF, Murray ME, Dickson D, Petrucelli L.

Brain Res. 2014 Oct 10;1584:15-21. doi: 10.1016/j.brainres.2014.02.015. Epub 2014 Feb 12.

13.

Mechanisms of toxicity in C9FTLD/ALS.

Gendron TF, Belzil VV, Zhang YJ, Petrucelli L.

Acta Neuropathol. 2014 Mar;127(3):359-76. doi: 10.1007/s00401-013-1237-z. Epub 2014 Jan 7. Review.

14.

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood.

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.

Acta Neuropathol. 2013 Dec;126(6):895-905. doi: 10.1007/s00401-013-1199-1. Epub 2013 Oct 29.

15.

ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.

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; JaCALS, 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.

Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10.

16.

RNA-mediated toxicity in neurodegenerative disease.

Belzil VV, Gendron TF, Petrucelli L.

Mol Cell Neurosci. 2013 Sep;56:406-19. doi: 10.1016/j.mcn.2012.12.006. Epub 2012 Dec 29. Review.

17.

Endoplasmic reticulum lipid rafts and upper motor neuron degeneration.

Belzil VV, Rouleau GA.

Ann Neurol. 2012 Oct;72(4):479-80. doi: 10.1002/ana.23678. No abstract available.

PMID:
23109142
18.

C9orf72 hexanucleotide repeat expansions as the causative mutation for chromosome 9p21-linked amyotrophic lateral sclerosis and frontotemporal dementia.

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.

Arch Neurol. 2012 Sep;69(9):1159-63. doi: 10.1001/archneurol.2012.377.

PMID:
22964911
19.

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.

Am J Hum Genet. 2012 Aug 10;91(2):313-9. doi: 10.1016/j.ajhg.2012.07.002. Epub 2012 Aug 2.

20.

Familial ALS: less common than we think?

Belzil VV, Rouleau GA.

J Neurol Neurosurg Psychiatry. 2012 Dec;83(12):1133. doi: 10.1136/jnnp-2012-303127. Epub 2012 Jul 11. No abstract available.

PMID:
22791902
21.

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia.

Belzil VV, Daoud H, Camu W, Strong MJ, Dion PA, Rouleau GA.

Eur J Hum Genet. 2013 Feb;21(2):237-9. doi: 10.1038/ejhg.2012.135. Epub 2012 Jun 27.

22.

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

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.

Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25.

PMID:
22539580
23.

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis.

Belzil VV, André-Guimont C, Atallah MR, Daoud H, Dupré N, Bouchard JP, Camu W, Dion PA, Rouleau GA.

Neurobiol Aging. 2012 Aug;33(8):1845.e7-9. doi: 10.1016/j.neurobiolaging.2012.01.011. Epub 2012 Feb 22.

PMID:
22361451
24.

SOD1 mutations: more to learn.

Belzil VV, Rouleau GA.

Can J Neurol Sci. 2012 Mar;39(2):132-3. No abstract available.

PMID:
22343144
25.

Novel FUS deletion in a patient with juvenile amyotrophic lateral sclerosis.

Belzil VV, Langlais JS, Daoud H, Dion PA, Brais B, Rouleau GA.

Arch Neurol. 2012 May;69(5):653-6.

PMID:
22248478
26.

Exome sequencing reveals SPG11 mutations causing juvenile ALS.

Daoud H, Zhou S, Noreau A, Sabbagh M, Belzil V, Dionne-Laporte A, Tranchant C, Dion P, Rouleau GA.

Neurobiol Aging. 2012 Apr;33(4):839.e5-9. doi: 10.1016/j.neurobiolaging.2011.11.012. Epub 2011 Dec 10.

PMID:
22154821
27.

Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupré N, Dion PA, Rouleau GA.

Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111.

PMID:
21670397
28.

No effect on SOD1 splicing by TARDP or FUS mutations.

Belzil VV, Daoud H, Dion PA, Rouleau GA.

Arch Neurol. 2011 Mar;68(3):395-6. doi: 10.1001/archneurol.2011.1. No abstract available.

PMID:
21403029
29.

Sensory and motor neuronopathy in a patient with the A382P TDP-43 mutation.

Camdessanché JP, Belzil VV, Jousserand G, Rouleau GA, Créac'h C, Convers P, Antoine JC.

Orphanet J Rare Dis. 2011 Feb 5;6:4. doi: 10.1186/1750-1172-6-4.

30.

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

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.

Amyotroph Lateral Scler. 2011 Mar;12(2):113-7. doi: 10.3109/17482968.2010.536840. Epub 2011 Jan 24.

PMID:
21261515
31.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

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.

Arch Neurol. 2011 May;68(5):587-93. doi: 10.1001/archneurol.2010.351. Epub 2011 Jan 10.

PMID:
21220648
32.

Identification of a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Belzil VV, St-Onge J, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA.

J Hum Genet. 2011 Mar;56(3):247-9. doi: 10.1038/jhg.2010.162. Epub 2010 Dec 16.

PMID:
21160488
33.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA.

Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28.

PMID:
21115467
34.

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis.

Belzil VV, Daoud H, Desjarlais A, Bouchard JP, Dupré N, Camu W, Dion PA, Rouleau GA.

Neurobiol Aging. 2011 Mar;32(3):555.e13-4. doi: 10.1016/j.neurobiolaging.2010.10.001. Epub 2010 Nov 11.

PMID:
21074290
35.

Chromosome 9p21 in amyotrophic lateral sclerosis: the plot thickens.

Daoud H, Belzil V, Dion PA, Rouleau GA.

Lancet Neurol. 2010 Oct;9(10):945-7. doi: 10.1016/S1474-4422(10)70211-8. No abstract available. Erratum in: Lancet Neurol. 2011 Mar;10(3):205.

PMID:
20801719
36.

Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.

Daoud H, Belzil V, Desjarlais A, Camu W, Dion PA, Rouleau GA.

Arch Neurol. 2010 Apr;67(4):516-7. doi: 10.1001/archneurol.2010.46. No abstract available.

PMID:
20385924
37.

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA.

Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. No abstract available.

PMID:
19847927
38.

Mutations in FUS cause FALS and SALS in French and French Canadian populations.

Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA.

Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

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