Prognostic Factors and Epidemiology of Amyotrophic Lateral Sclerosis in Southeastern United States

Authors: Engelberg-Cook, Erica, Shah, Jaimin S., Teixeira da Silva Hucke, Andre, Vera-Garcia, Diana V., Dagher, Jany E., Donahue, Megan H., Belzil, Veronique V., Oskarsson, Björn

Source: In Mayo Clinic Proceedings: Innovations, Quality & Outcomes October 2024 8(5):482-492

Single-cell dissection of the human motor and prefrontal cortices in ALS and FTLD

Authors: Pineda, S. Sebastian, Lee, Hyeseung, Ulloa-Navas, Maria J., Linville, Raleigh M., Garcia, Francisco J., Galani, Kyriakitsa, Engelberg-Cook, Erica, Castanedes, Monica C., Fitzwalter, Brent E., Pregent, Luc J., Gardashli, Mahammad E., DeTure, Michael, Vera-Garcia, Diana V., Hucke, Andre T.S., Oskarsson, Bjorn E., Murray, Melissa E., Dickson, Dennis W., Heiman, Myriam, Belzil, Veronique V., Kellis, Manolis

Source: In Cell 11 April 2024 187(8):1971-1989

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Authors: Moore, Stephen, Alsop, Eric, Lorenzini, Ileana, Starr, Alexander, Rabichow, Benjamin E., Mendez, Emily, Levy, Jennifer L., Burciu, Camelia, Reiman, Rebecca, Chew, Jeannie, Belzil, Veronique V., W. Dickson, Dennis, Robertson, Janice, Staats, Kim A., Ichida, Justin K., Petrucelli, Leonard, Van Keuren-Jensen, Kendall, Sattler, Rita

Source: Acta neuropathologica. 138(1):49-65

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141525862.0x000001&indx=1&recIds=ETOCvdc_100141525862.0x000001

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

Authors: Esanov, Rustam, Belle, Kinsley C., van Blitterswijk, Marka, Belzil, Veronique V., Rademakers, Rosa, Dickson, Dennis W., Petrucelli, Leonard, Boylan, Kevin B., Dykxhoorn, Derek M., Wuu, Joanne, Benatar, Michael, Wahlestedt, Claes, Zeier, Zane

Source: In Experimental Neurology March 2016 277:171-177

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

Authors: Belzil, Veronique V., Bauer, Peter O., Gendron, Tania F., Murray, Melissa E., Dickson, Dennis, Petrucelli, Leonard

Source: In Brain Research 10 October 2014 1584:15-21

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation.

Authors: Li, Junhao, Jaiswal, Manoj K., Chien, Jo-Fan, Kozlenkov, Alexey, Jung, Jinyoung, Zhou, Ping, Gardashli, Mahammad, Pregent, Luc J., Engelberg-Cook, Erica, Dickson, Dennis W., Belzil, Veronique V., Mukamel, Eran A., Dracheva, Stella

Source: Nature Communications; 9/15/2023, Vol. 14 Issue 1, p1-22, 22p

Subject Terms: GENETIC regulation, AMYOTROPHIC lateral sclerosis, NEUROGLIA, CELL analysis, FRONTAL lobe, SOMATIC cell nuclear transfer, POSTMORTEM changes

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Authors: Merner, Nancy D., Girard, Simon L., Catoire, Hélène, Bourassa, Cynthia V., Belzil, Véronique V., Rivière, Jean-Baptiste, Hince, Pascale, Levert, Annie, Dionne-Laporte, Alexandre, Spiegelman, Dan, Noreau, Anne, Diab, Sabrina, Szuto, Anna, Fournier, Hélène, Raelson, John, Belouchi, Majid, Panisset, Michel, Cossette, Patrick, Dupré, Nicolas, Bernard, Geneviève, Chouinard, Sylvain, Dion, Patrick A., Rouleau, Guy A.

Source: In The American Journal of Human Genetics 10 August 2012 91(2):313-319

Epigenetic modifications of the C9ORF72 gene: a potential biomarker of disease?

Authors: Belzil, Veronique V, Petrucelli, Leonard

Source: Future neurology. 9(2):123-126

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123908468.0x000001&indx=1&recIds=ETOCvdc_100123908468.0x000001

Correction to: ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD

Authors: Moore, Stephen, Alsop, Eric, Lorenzini, Ileana, Starr, Alexander, Rabichow, Benjamin E., Mendez, Emily, Levy, Jennifer L., Burciu, Camelia, Reiman, Rebecca, Chew, Jeannie, Belzil, Veronique V., Dickson, Dennis, Robertson, Janice, Staats, Kim A., Ichida, Justin K., Petrucelli, Leonard, Van Keuren-Jensen, Kendall, Sattler, Rita

Source: Acta neuropathologica. 138(5):883-884

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100141525769.0x000001&indx=1&recIds=ETOCvdc_100141525769.0x000001

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis

Authors: Belzil, Véronique V., André-Guimont, Catherine, Atallah, Marie-Renée, Daoud, Hussein, Dupré, Nicolas, Bouchard, Jean-Pierre, Camu, William, Dion, Patrick A., Rouleau, Guy A.

Source: In Neurobiology of Aging August 2012 33(8):1845-1845

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

Authors: Prudencio, Mercedes¹, Belzil, Veronique V¹, Batra, Ranjan¹, Ross, Christian A², Gendron, Tania F¹, Pregent, Luc J¹, Murray, Melissa E¹, Overstreet, Karen K³, Piazza-Johnston, Amelia E³, Desaro, Pamela³, Bieniek, Kevin F⁴, DeTure, Michael¹, Lee, Wing C¹, Biendarra, Sherri M⁵, Davis, Mary D¹, Baker, Matthew C¹, Perkerson, Ralph B¹, van Blitterswijk, Marka¹, Stetler, Caroline T¹, Rademakers, Rosa¹

Source: Nature Neuroscience. Aug2015, Vol. 18 Issue 8, p1175-1182. 8p. 1 Chart, 6 Graphs.

Subject Terms: *GENETICS of amyotrophic lateral sclerosis, *ALTERNATIVE RNA splicing, *RNA metabolism, *NUCLEOPROTEINS, *GENE expression, *NEURODEGENERATION

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

Authors: Belzil, Véronique V., Daoud, Hussein, Desjarlais, Anne, Bouchard, Jean-Pierre, Dupré, Nicolas, Camu, William, Dion, Patrick A., Rouleau, Guy A.

Source: In Neurobiology of Aging 2011 32(3):555-555

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

Authors: Belzil, Veronique V.¹ (AUTHOR), Daoud, Hussein¹ (AUTHOR), St-Onge, Judith¹ (AUTHOR), Desjarlais, Anne¹ (AUTHOR), Bouchard, Jean-Pierre² (AUTHOR), Dupre, Nicolas² (AUTHOR), Lacomblez, Lucette³ (AUTHOR), Salachas, François³ (AUTHOR), Pradat, Pierre-François³ (AUTHOR), Meininger, Vincent³ (AUTHOR), Camu, William⁴ (AUTHOR), Dion, Patrick A.^1,5 (AUTHOR), Rouleau, Guy A.^1,6,7 (AUTHOR) guy.rouleau@umontreal.ca

Source: Amyotrophic Lateral Sclerosis. Mar2011, Vol. 12 Issue 2, p113-117. 5p. 1 Diagram, 1 Chart, 1 Graph.

Subject Terms: *AMYOTROPHIC lateral sclerosis, *MOTOR neuron diseases, *EXONS (Genetics), *SPLIT genes

Geographic Terms: EUROPE

A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS.

Authors: Valdmanis, Paul N.^1,2, Belzil, Veronique V.¹, Lee, James¹, Dion, Patrick A.¹, St-Onge, Judith¹, Hince, Pascale¹, Funalot, Benoit³, Couratier, Philippe³, Clavelou, Pierre⁴, Camu, William⁵, Rouleau, Guy A.¹ guy.rouleau@umontreal.ca

Source: Annals of Human Genetics. Nov2009, Vol. 73 Issue 6, p652-657. 6p. 2 Diagrams, 1 Chart.

Subject Terms: *AMYOTROPHIC lateral sclerosis, *NEUROMUSCULAR diseases, *NEURONS, *BRAIN stem, *GENETIC mutation

ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD.

Authors: Lorenzini, Ileana, Starr, Alexander, Rabichow, Benjamin E., Mendez, Emily, Levy, Jennifer L., Burciu, Camelia, Sattler, Rita, Moore, Stephen, Alsop, Eric, Reiman, Rebecca, Van Keuren-Jensen, Kendall, Chew, Jeannie, Belzil, Veronique V., W. Dickson, Dennis, Petrucelli, Leonard, Robertson, Janice, Staats, Kim A., Ichida, Justin K.

Source: Acta Neuropathologica; Jul2019, Vol. 138 Issue 1, p49-65, 17p

Subject Terms: RNA editing, AMYOTROPHIC lateral sclerosis, RNA-binding proteins, DOUBLE-stranded RNA, CATALYTIC RNA, ADENOSINE deaminase

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

Authors: Su, Zhaoming, Zhang, Yongjie, Gendron, Tania F., Bauer, Peter O., Chew, Jeannie, Yang, Wang-Yong, Fostvedt, Erik, Jansen-West, Karen, Belzil, Veronique V., Desaro, Pamela, Johnston, Amelia, Overstreet, Karen, Oh, Seok-Yoon, Todd, Peter K., Berry, James D., Cudkowicz, Merit E., Boeve, Bradley F., Dickson, Dennis, Floeter, Mary Kay, Traynor, Bryan J., Morelli, Claudia, Ratti, Antonia, Silani, Vincenzo, Rademakers, Rosa, Brown, Robert H., Rothstein, Jeffrey D., Boylan, Kevin B., Petrucelli, Leonard, Disney, Matthew D.

Source: In Neuron 3 September 2014 83(5):1043-1050

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

Authors: Takahashi, Yuji, Fukuda, Yoko, Yoshimura, Jun, Toyoda, Atsushi, Kurppa, Kari, Moritoyo, Hiroyoko, Belzil, Veronique V., Dion, Patrick A., Higasa, Koichiro, Doi, Koichiro, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Ahsan, Budrul, Matsukawa, Takashi, Ichikawa, Yaeko, Moritoyo, Takashi, Ikoma, Mayumi, Hashimoto, Tsukasa, Kimura, Fumiharu, Murayama, Shigeo, Onodera, Osamu, Nishizawa, Masatoyo, Yoshida, Mari, Atsuta, Naoki, Sobue, Gen, Fifita, Jennifer A., Williams, Kelly L., Blair, Ian P., Nicholson, Garth A., Gonzalez-Perez, Paloma, Brown, Robert H., Jr., Nomoto, Masahiro, Elenius, Klaus, Rouleau, Guy A., Fujiyama, Asao, Morishita, Shinichi, Goto, Jun, Tsuji, Shoji

Source: In The American Journal of Human Genetics 7 November 2013 93(5):900-905

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