Works matching AU Dion, Patrick A.

Results: 101
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    Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective.

    Published in:
    Cerebellum, 2022, v. 21, n. 1, p. 49, doi. 10.1007/s12311-021-01268-1
    By:
    • da Graça, Felipe Franco;
    • Peluzzo, Thiago M.;
    • Bonadia, Luciana Cardoso;
    • Martinez, Alberto Rolim Muro;
    • Diniz de Lima, Fabricio;
    • Pedroso, José Luiz;
    • Barsottini, Orlando G. P.;
    • Gama, Maria Thereza Drummond;
    • Akçimen, Fulya;
    • Dion, Patrick A.;
    • Rouleau, Guy A.;
    • Marques Jr, Wilson;
    • França Jr, Marcondes Cavalcante
    Publication type:
    Article
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    Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.

    Published in:
    Cerebellum, 2019, v. 18, n. 4, p. 731, doi. 10.1007/s12311-019-01033-5
    By:
    • Gama, Maria Thereza Drumond;
    • Braga-Neto, Pedro;
    • Dutra, Livia Almeida;
    • Alessi, Helena;
    • Maria, Lilia Alves;
    • Gadelha, Ary Araripe;
    • Ortiz, Bruno Bertolucci;
    • Kunii, Ilda;
    • Correia-Silva, Silvia Regina;
    • Dias da Silva, Magnus R.;
    • Dion, Patrick A.;
    • Rouleau, Guy A.;
    • França, Marcondes Cavalcante;
    • Barsottini, Orlando G. P.;
    • Pedroso, José Luiz
    Publication type:
    Article
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    Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7.

    Published in:
    Movement Disorders, 2021, v. 36, n. 7, p. 1664, doi. 10.1002/mds.28528
    By:
    • Estiar, Mehrdad A.;
    • Yu, Eric;
    • Haj Salem, Ikhlass;
    • Ross, Jay P.;
    • Mufti, Kheireddin;
    • Akçimen, Fulya;
    • Leveille, Etienne;
    • Spiegelman, Dan;
    • Ruskey, Jennifer A.;
    • Asayesh, Farnaz;
    • Dagher, Alain;
    • Yoon, Grace;
    • Tarnopolsky, Mark;
    • Boycott, Kym M.;
    • Dupre, Nicolas;
    • Dion, Patrick A.;
    • Suchowersky, Oksana;
    • Trempe, Jean‐Francois;
    • Rouleau, Guy A.;
    • Gan‐Or, Ziv
    Publication type:
    Article
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    Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.

    Published in:
    2020
    By:
    • Liao, Calwing;
    • Sarayloo, Faezeh;
    • Rochefort, Daniel;
    • Houle, Gabrielle;
    • Akçimen, Fulya;
    • He, Qin;
    • Laporte, Alexandre D.;
    • Spiegelman, Dan;
    • Poewe, Werner;
    • Berg, Daniela;
    • Müller, Stefanie;
    • Hopfner, Franziska;
    • Deuschl, Günther;
    • Kuhlenbäeumer, Gregor;
    • Rajput, Alex;
    • Dion, Patrick A.;
    • Rouleau, Guy A.
    Publication type:
    journal article
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    Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.

    Published in:
    2017
    By:
    • Houle, Gabrielle;
    • Schmouth, Jean‐François;
    • Leblond, Claire S.;
    • Ambalavanan, Amirthagowri;
    • Spiegelman, Dan;
    • Laurent, Sandra B.;
    • Bourassa, Cynthia V.;
    • Panisset, Michel;
    • Chouinard, Sylvain;
    • Dupré, Nicolas;
    • Vilariño‐Güell, Carles;
    • Rajput, Alex;
    • Dion, Patrick A.;
    • Rouleau, Guy A.;
    • Schmouth, Jean-François;
    • Dupré, Nicolas;
    • Vilariño-Güell, Carles
    Publication type:
    journal article
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    SYNE1 Mutations in Autosomal Recessive Cerebellar Ataxia.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 10, p. 1296, doi. 10.1001/jamaneurol.2013.3268
    By:
    • Noreau, Anne;
    • Bourassa, Cynthia V.;
    • Szuto, Anna;
    • Levert, Annie;
    • Dobrzeniecka, Sylvia;
    • Gauthier, Julie;
    • Forlani, Sylvie;
    • Durr, Alexandra;
    • Anheim, Mathieu;
    • Stevanin, Giovanni;
    • Brice, Alexis;
    • Bouchard, Jean-Pierre;
    • Dion, Patrick A.;
    • Dupré, Nicolas;
    • Rouleau, Guy A.
    Publication type:
    Article
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    A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS.

    Published in:
    Annals of Human Genetics, 2009, v. 73, n. 6, p. 652, doi. 10.1111/j.1469-1809.2009.00546.x
    By:
    • Valdmanis, Paul N.;
    • Belzil, Veronique V.;
    • Lee, James;
    • Dion, Patrick A.;
    • St-Onge, Judith;
    • Hince, Pascale;
    • Funalot, Benoit;
    • Couratier, Philippe;
    • Clavelou, Pierre;
    • Camu, William;
    • Rouleau, Guy A.
    Publication type:
    Article
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    Increased exonic de novo mutation rate in individuals with schizophrenia.

    Published in:
    Nature Genetics, 2011, v. 43, n. 9, p. 860, doi. 10.1038/ng.886
    By:
    • Girard, Simon L.;
    • Gauthier, Julie;
    • Noreau, Anne;
    • Xiong, Lan;
    • Zhou, Sirui;
    • Jouan, Loubna;
    • Dionne-Laporte, Alexandre;
    • Spiegelman, Dan;
    • Henrion, Edouard;
    • Diallo, Ousmane;
    • Thibodeau, Pascale;
    • Bachand, Isabelle;
    • Bao, Jessie Y. J.;
    • Tong, Amy Hin Yan;
    • Lin, Chi-Ho;
    • Millet, Bruno;
    • Jaafari, Nematollah;
    • Joober, Ridha;
    • Dion, Patrick A.;
    • Lok, Si
    Publication type:
    Article
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    TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

    Published in:
    Nature Genetics, 2008, v. 40, n. 5, p. 572, doi. 10.1038/ng.132
    By:
    • Kabashi, Edor;
    • Valdmanis, Paul N.;
    • Dion, Patrick;
    • Spiegelman, Dan;
    • McConkey, Brendan J.;
    • Velde, Christine Vande;
    • Bouchard, Jean-Pierre;
    • Lacomblez, Lucette;
    • Pochigaeva, Ksenia;
    • Salachas, Francois;
    • Pradat, Pierre-Francois;
    • Camu, William;
    • Meininger, Vincent;
    • Dupre, Nicolas;
    • Rouleau, Guy A.
    Publication type:
    Article
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    C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder.

    Published in:
    Canadian Journal of Neurological Sciences, 2014, v. 41, n. 6, p. 759, doi. 10.1017/cjn.2014.39
    By:
    • Daoud, Hussein;
    • Postuma, Ronald B.;
    • Bourassa, Cynthia V.;
    • Rochefort, Daniel;
    • Gauthier, Maude Turcotte;
    • Montplaisir, Jacques;
    • Gagnon, Jean-Francois;
    • Arnulf, Isabelle;
    • Dauvilliers, Yves;
    • Charley, Christelle Monaca;
    • Inoue, Yuichi;
    • Sasai, Taeko;
    • Hogl, Birgit;
    • Desautels, Alex;
    • Frauscher, Birgit;
    • De Cock, Valérie Cochen;
    • Rouleau, Guy A.;
    • Dion, Patrick A.
    Publication type:
    Article
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    Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort.

    Published in:
    Canadian Journal of Neurological Sciences, 2011, v. 38, n. 5, p. 772, doi. 10.1017/S0317167100012300
    By:
    • Noreau, Anne;
    • Rivière, Jean-Baptiste;
    • Diab, Sabrina;
    • Dion, Patrick A.;
    • Panisset, Michel;
    • Soland, Valérie;
    • Jodoin, Nicolas;
    • Langlois, Mélanie;
    • Chouinard, Sylvain;
    • Dupré, Nicolas;
    • Rouleau, Guy A.
    Publication type:
    Article
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    Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients.

    Published in:
    Acta Neuropathologica Communications, 2015, v. 3, n. 1, p. 1, doi. 10.1186/s40478-014-0181-z
    By:
    • Paré, Bastien;
    • Touzel-Deschênes, Lydia;
    • Lamontagne, Rémy;
    • Lamarre, Marie-Soleil;
    • Scott, François-Dominique;
    • Khuong, Hélène T.;
    • Dion, Patrick A.;
    • Bouchard, Jean-Pierre;
    • Gould, Peter;
    • Rouleau, Guy A.;
    • Dupré, Nicolas;
    • Berthod, François;
    • Gros-Louis, François
    Publication type:
    Article
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    Oligomerization of polyalanineexpanded PABPN1 facilitates nuclear protein aggregation that is associatedwith cell death.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 21, p. 2341, doi. 10.1093/hmg/10.21.2341
    By:
    • Fan, Xueping;
    • Dion, Patrick;
    • Laganiere, Janet;
    • Brais, Bernard;
    • RouleauTowhom correspondence should be addressed at: Room L7-224, MontrealGeneral Hospital, 1650 Cedar Avenue, Montreal, Quebec H3G 1A4, Canada.Tel: +1 514 934 8094; Fax: +1 514 934 8265; Email:mi32@musica.mcgill.ca, Guy A.
    Publication type:
    Article
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    Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males.

    Published in:
    American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 6, p. 335, doi. 10.1002/ajmg.b.32683
    By:
    • Ambalavanan, Amirthagowri;
    • Chaumette, Boris;
    • Zhou, Sirui;
    • Xie, Pingxing;
    • He, Qin;
    • Spiegelman, Dan;
    • Dionne‐Laporte, Alexandre;
    • Bourassa, Cynthia V.;
    • Therrien, Martine;
    • Rochefort, Daniel;
    • Xiong, Lan;
    • Dion, Patrick A.;
    • Joober, Ridha;
    • Rapoport, Judith L.;
    • Girard, Simon L.;
    • Rouleau, Guy A.
    Publication type:
    Article
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    Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum.

    Published in:
    Journal of Neuroscience, 2012, v. 32, n. 11, p. 3865, doi. 10.1523/JNEUROSCI.3679-11.2012
    By:
    • Shekarabi, Masoud;
    • Moldrich, Randal X.;
    • Rasheed, Sarah;
    • Salin-Cantegrel, Adéle;
    • Laganière, Janet;
    • Rochefort, Daniel;
    • Hince, Pascale;
    • Huot, Karine;
    • Gaudet, Rébecca;
    • Kurniawan, Nyoman;
    • Sotocinal, Susana G.;
    • Ritchie, Jennifer;
    • Dion, Patrick A.;
    • Mogil, Jeffrey S.;
    • Richards, Linda J.;
    • Rouleau, Guy A.
    Publication type:
    Article
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    Oligogenicity, C9orf72 expansion, and variant severity in ALS.

    Published in:
    Neurogenetics, 2020, v. 21, n. 3, p. 227, doi. 10.1007/s10048-020-00612-7
    By:
    • Ross, Jay P.;
    • Leblond, Claire S.;
    • Laurent, Sandra B.;
    • Spiegelman, Dan;
    • Dionne-Laporte, Alexandre;
    • Camu, William;
    • Dupré, Nicolas;
    • Dion, Patrick A.;
    • Rouleau, Guy A.
    Publication type:
    Article
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