Works matching AU Rouleau, Guy A.

Results: 304
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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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    Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers.

    Published in:
    Journal of Neuroscience, 2018, v. 38, n. 20, p. 4655, doi. 10.1523/JNEUROSCI.3251-17.2018
    By:
    • Vosberg, Daniel E.;
    • Yu Zhang;
    • Menegaux, Aurore;
    • Chalupa, Amanda;
    • Manitt, Colleen;
    • Zehntner, Simone;
    • Eng, Conrad;
    • DeDuck, Kristina;
    • Allard, Dominique;
    • Durand, France;
    • Dagher, Alain;
    • Benkelfat, Chawki;
    • Srour, Myriam;
    • Joober, Ridha;
    • Lepore, Franco;
    • Rouleau, Guy;
    • Theoret, Hugo;
    • Bedell, Barry J.;
    • Flores, Cecilia;
    • Leyton, Marco
    Publication type:
    Article
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    Strategies for studying the epilepsy genome.

    Published in:
    Epilepsia (Series 4), 2010, v. 51, p. 58, doi. 10.1111/j.1528-1167.2010.02844.x
    By:
    • Ferraro, Thomas N.;
    • Serratosa, Jose M.;
    • Pal, Deb K.;
    • Rouleau, Guy A.;
    • Buono, Russell J.
    Publication type:
    Article
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    Mutated GABA.

    Published in:
    Epilepsia (Series 4), 2010, v. 51, p. 62, doi. 10.1111/j.1528-1167.2010.02848.x
    By:
    • Cossette, Patrick;
    • Rouleau, Guy A.
    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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    Analysis of Heterozygous PRKN Variants and Copy‐Number Variations in Parkinson's Disease.

    Published in:
    Movement Disorders, 2021, v. 36, n. 1, p. 178, doi. 10.1002/mds.28299
    By:
    • Yu, Eric;
    • Rudakou, Uladzislau;
    • Krohn, Lynne;
    • Mufti, Kheireddin;
    • Ruskey, Jennifer A.;
    • Asayesh, Farnaz;
    • Estiar, Mehrdad A.;
    • Spiegelman, Dan;
    • Surface, Matthew;
    • Fahn, Stanley;
    • Waters, Cheryl H.;
    • Greenbaum, Lior;
    • Espay, Alberto J.;
    • Dauvilliers, Yves;
    • Dupré, Nicolas;
    • Rouleau, Guy A.;
    • Hassin‐Baer, Sharon;
    • Fon, Edward A.;
    • Alcalay, Roy N.;
    • 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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    Expanding the Clinical Phenotype Associated With ELOVL4 Mutation.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 4, p. 470, doi. 10.1001/jamaneurol.2013.6337
    By:
    • Cadieux-Dion, Maxime;
    • Turcotte-Gauthier, Maude;
    • Noreau, Anne;
    • Martin, Caroline;
    • Meloche, Caroline;
    • Gravel, Micheline;
    • Drouin, Christian Allen;
    • Rouleau, Guy A.;
    • Nguyen, Dang Khoa;
    • Cossette, Patrick
    Publication type:
    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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    GCH1 mutations in hereditary spastic paraplegia.

    Published in:
    Clinical Genetics, 2021, v. 100, n. 1, p. 51, doi. 10.1111/cge.13955
    By:
    • Varghaei, Parizad;
    • Yoon, Grace;
    • Estiar, Mehrdad A.;
    • Veyron, Simon;
    • Leveille, Etienne;
    • Dupré, Nicolas;
    • Trempe, Jean‐François;
    • Rouleau, Guy A.;
    • Gan‐Or, Ziv
    Publication type:
    Article
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    Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping.

    Published in:
    European Journal of Human Genetics, 2000, v. 8, n. 5, p. 372, doi. 10.1038/sj.ejhg.5200471
    By:
    • Kibar, Zoha;
    • Dubé, Marie-Pierre;
    • Powell, Julie;
    • McCuaïg, Catherine;
    • Hayflick, Susan J;
    • Zonana, Jonathan;
    • Hovnanian, Alain;
    • Radhakrishna, Uppala;
    • Antonarakis, Stylianos E;
    • Benohanian, Antranik;
    • Sheeran, Amy D;
    • Stephan, Mark L;
    • Gosselin, Richard;
    • Kelsell, David P;
    • Christianson, Arnold L;
    • Fraser, F Clarke;
    • Der Kaloustian, Vazken M;
    • 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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    Variation in genome-wide mutation rates within and between human families.

    Published in:
    Nature Genetics, 2011, v. 43, n. 7, p. 712, doi. 10.1038/ng.862
    By:
    • Conrad, Donald F.;
    • Keebler, Jonathan E. M.;
    • DePristo, Mark A.;
    • Lindsay, Sarah J.;
    • Yujun Zhang;
    • Casals, Ferran;
    • Idaghdour, Youssef;
    • Hartl, Chris L.;
    • Torroja, Carlos;
    • Garimella, Kiran V.;
    • Zilversmit, Martine;
    • Cartwright, Reed;
    • Rouleau, Guy A.;
    • Daly, Mark;
    • Stone, Eric A.;
    • Hurles, Matthew E.;
    • Awadalla, Philip.
    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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