Suchergebnisse - Cynthia V. Bourassa

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  1. 1
    Increasing Risk of Relapse after Treatment of Clostridium difficile Colitis in Quebec, Canada

    Increasing Risk of Relapse after Treatment of Clostridium difficile Colitis in Quebec, Canada von Jean‐Louis Pépin, M.-E. Alary, Louis Valiquette, Évelyne Raïche, Joannie Ruel, Krisztina Fülöp, Diane Godin‐Ribuot, Cynthia V. Bourassa

    Veröffentlicht 2005
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  2. 2
    Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

    Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia von Nancy D. Merner, Madison R. Chandler, Cynthia V. Bourassa, Bo Liang, Arjun R. Khanna, Patrick A. Dion, Guy A. Rouleau, Kristopher T. Kahle

    Veröffentlicht 2015
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  3. 3
    De novo variants in sporadic cases of childhood onset schizophrenia

    De novo variants in sporadic cases of childhood onset schizophrenia von Amirthagowri Ambalavanan, Simon Girard, Kwangmi Ahn, Sirui Zhou, Alexandre Dionne‐Laporte, Dan Spiegelman, Cynthia V. Bourassa, Julie Gauthier, Fadi F. Hamdan, Lan Xiong, Patrick A. Dion, Ridha Joober, Judith L. Rapoport, Guy A. Rouleau

    Veröffentlicht 2015
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  4. 4
    Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations

    Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations von Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicarie, Orlando Graziani Póvoas Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2019
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  5. 5
    Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations

    Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations von Fulya Akçimen, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie‐Josée Dicaire, Orlando Graziani Póvoas Barsottini, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2019
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  6. 6
    Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

    Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals von Simon Girard, Cynthia V. Bourassa, Louis‐Philippe Lemieux Perreault, Marc‐André Legault, Amina Barhdadi, Amirthagowri Ambalavanan, Mara Brendgen, Frank Vitaro, Anne Noreau, Ginette Dionne, Richard E. Tremblay, Patrick A. Dion, Michel Boivin, Marie‐Pierre Dubé, Guy A. Rouleau

    Veröffentlicht 2016
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  7. 7
    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

    VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families von Cynthia V. Bourassa, Inge A. Meijer, Nancy D. Merner, Kanwal K. Grewal, Mark Stefanelli, Kathleen Hodgkinson, Elizabeth Ives, William Pryse‐Phillips, Mandar Jog, Kym M. Boycott, David A. Grimes, Sharan Goobie, Richard Leckey, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2012
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  8. 8
    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population von Sirui Zhou, Amirthagowri Ambalavanan, Daniel Rochefort, Pingxing Xie, Cynthia V. Bourassa, Pascale Hince, Alexandre Dionne‐Laporte, Dan Spiegelman, Ziv Gan‐Or, Cathy Mirarchi, Vesséla Zaharieva, Nicolas Dupré, Hatasu Kobayashi, Toshiaki Hitomi, Kouji H. Harada, Akio Koizumi, Lan Xiong, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2016
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  9. 9
    Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

    Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease von Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2019
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  10. 10
    Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

    Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease von Fulya Akçimen, Sandra Martins, Calwing Liao, Cynthia V. Bourassa, Hélène Catoire, Garth A. Nicholson, Olaf Rieß, Mafalda Raposo, Marcondes C. França, João Vasconcelos, Manuela Lima, Íscia Lopes‐Cendes, Maria Luiza Saraiva Pereira, Laura Bannach Jardim, Jorge Sequeiros, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2020
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  11. 11
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor von Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau

    Veröffentlicht 2012
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  12. 12
    Evolution of a Human-Specific Tandem Repeat Associated with ALS

    Evolution of a Human-Specific Tandem Repeat Associated with ALS von Meredith M. Course, Kathryn Gudsnuk, Samuel N. Smukowski, Kosuke Winston, Nitin Desai, Jay P. Ross, Arvis Sulovari, Cynthia V. Bourassa, Dan Spiegelman, Julien Couthouis, Chang‐En Yu, Debby W. Tsuang, Suman Jayadev, Mark A. Kay, Aaron D. Gitler, Nicolas Dupré, Evan E. Eichler, Patrick A. Dion, Guy A. Rouleau, Paul N. Valdmanis

    Veröffentlicht 2020
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  13. 13
    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy

    Genetically encoded impairment of neuronal <scp>KCC</scp> 2 cotransporter function in human idiopathic generalized epilepsy von Kristopher T. Kahle, Nancy D. Merner, Perrine Friedel, Liliya Silayeva, Bo Liang, Arjun Khanna, Yuze Shang, Pamela Lachance‐Touchette, Cynthia V. Bourassa, Annie Levert, Patrick A. Dion, Brian P. Walcott, Dan Spiegelman, Alexandre Dionne‐Laporte, Alan Hodgkinson, Philip Awadalla, Hamid Nikbakht, Jacek Majewski, Patrick Cossette, Tarek Z. Deeb, Stephen J. Moss, Igor Medina, Guy A. Rouleau

    Veröffentlicht 2014
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  14. 14
    Genome-wide association study in essential tremor identifies three new loci

    Genome-wide association study in essential tremor identifies three new loci von Stefanie H. Müller, Simon Girard, Franziska Hopfner, Nancy D. Merner, Cynthia V. Bourassa, Delia Lorenz, Lorraine N. Clark, Lukas Tittmann, Alexandra I. Soto‐Ortolaza, Stephan Klebe, Mark Hallett, Susanne A. Schneider, Colin A. Hodgkinson, Wolfgang Lieb, Zbigniew K. Wszołek, Manuela Pendziwiat, Oswaldo Lorenzo‐Betancor, Werner Poewe, Sara Ortega‐Cubero, Klaus Seppi, Alex Rajput, Anna Hussl, Ali H. Rajput, Daniela Berg, Patrick A. Dion, Isabel Wurster, Joshua Shulman, Karin Srulijes, Dietrich Haubenberger, Pau Pástor, Carles Vilariño‐Güell, Ronald B. Postuma, Geneviève Bernard, Karl‐Heinz Ladwig, Nicolas Dupré, Joseph Jankovic, Konstantin Strauch, Michel Panisset, Juliane Winkelmann, Claudia Testa, Eva Reischl, Kirsten E. Zeuner, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Günther Deuschl, Elan D. Louis, Gregor Kuhlenbäumer, Guy A. Rouleau

    Veröffentlicht 2016
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