檢索結果 - Patrick Cossette

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  1. 1
    A retrospective study on aetiology based outcome of infantile spasms

    A retrospective study on aetiology based outcome of infantile spasms 由 Georges Karvelas, Anne Lortie, Morris H. Scantlebury, Paul T. Duy, Patrick Cossette, Lionel Carmant

    出版 2008
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  2. 2
    Two definite cases of sudden unexpected death in epilepsy in a family with a <i>DEPDC5</i> mutation

    Two definite cases of sudden unexpected death in epilepsy in a family with a <i>DEPDC5</i> mutation 由 Fábio A. Nascimento, Felippe Borlot, Patrick Cossette, Berge A. Minassian, Danielle M. Andrade

    出版 2015
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  3. 3
    Human copy number variants are enriched in regions of low mappability

    Human copy number variants are enriched in regions of low mappability 由 Jean Monlong, Patrick Cossette, Caroline Meloche, Guy A. Rouleau, Simon Girard, Guillaume Bourque

    出版 2018
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  4. 4
    X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

    X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome 由 Dang Khoa Nguyen, Isabelle Rouleau, Geneviève Sénéchal, Ana Inés Ansaldo, Micheline Gravel, Fabio Benfenati, Patrick Cossette

    出版 2015
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  5. 5
    Sacred disease secrets revealed: the genetics of human epilepsy

    Sacred disease secrets revealed: the genetics of human epilepsy 由 Julie Turnbull, Hannes Lohi, Jennifer A. Kearney, Guy A. Rouleau, Antonio V. Delgado‐Escueta, Miriam H. Meisler, Patrick Cossette, Berge A. Minassian

    出版 2005
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  6. 6
    Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord

    Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord 由 Alexandre Montpetit, Stéphanie Côté, Edna Brustein, Christian A. Drouin, Line Lapointe, Michèle Boudreau, Caroline Meloche, Régen Drouin, Thomas J. Hudson, Pierre Drapeau, Patrick Cossette

    出版 2008
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  7. 7
    Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

    Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity 由 Gabriele Lignani, Andrea Raimondi, Enrico Ferrea, Anna Rocchi, Francesco Paonessa, Fabrizia Cesca, Marta Orlando, Tatiana Tkatch, Flavia Valtorta, Patrick Cossette, Pietro Baldelli, Fabio Benfenati

    出版 2013
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  8. 8
    γ‐Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment

    γ‐Aminobutyric acid receptor alpha 1 subunit loss of function causes genetic generalized epilepsy by impairing inhibitory network neurodevelopment 由 Éric Samarut, Amrutha Swaminathan, Raphaëlle Riché, Meijiang Liao, Rahma Hassan-Abdi, Solène Renault, Marc W. Allard, Liselotte Dufour, Patrick Cossette, Nadia Soussi‐Yanicostas, Pierre Drapeau

    出版 2018
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  9. 9
    The genetic landscape of infantile spasms

    The genetic landscape of infantile spasms 由 Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A. Meijer, Emmanuelle Lemyre, Patrick Cossette, Heather C. Mefford, Guy A. Rouleau, Elsa Rossignol

    出版 2014
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  10. 10
    SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

    SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth 由 Anna Corradi, Manuela Fadda, Amélie Piton, Lysanne Patry, Antonella Marte, Pia Rossi, Maxime Cadieux‐Dion, Julie Gauthier, Line Lapointe, Laurent Mottron, Flavia Valtorta, Guy A. Rouleau, Anna Fassio, Fabio Benfenati, Patrick Cossette

    出版 2013
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  11. 11
    Voltage-Gated Na<sup>+</sup>Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy

    Voltage-Gated Na<sup>+</sup>Channel β1B: A Secreted Cell Adhesion Molecule Involved in Human Epilepsy 由 Gustavo A. Patiño, William J. Brackenbury, Yang‐Yang Bao, Luis F. Lopez‐Santiago, Heather A. O’Malley, Chunling Chen, Jeffrey D. Calhoun, Ron G. Lafrenière, Patrick Cossette, Guy A. Rouleau, Lori L. Isom

    出版 2011
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  12. 12
    Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations

    Familial focal epilepsy with focal cortical dysplasia due to <scp><i>DEPDC</i></scp><i>5</i> mutations 由 Stéphanie Baulac, Saeko Ishida, Elise Marsan, Catherine Miquel, Arnaud Biraben, Dang Khoa Nguyen, Doug Nordli, Patrick Cossette, Sylvie Nguyen, Virginie Lambrecq, Mihaela Bustuchina ̆ Vlaicu, Maïlys Daniau, Franck Bielle, Eva Andermann, Frédérick Andermann, Eric Leguern, Francine Chassoux, Fabienne Picard

    出版 2015
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  13. 13
    Global characterization of copy number variants in epilepsy patients from whole genome sequencing

    Global characterization of copy number variants in epilepsy patients from whole genome sequencing 由 Jean Monlong, Simon Girard, Caroline Meloche, Maxime Cadieux‐Dion, Danielle M. Andrade, Ron G. Lafrenière, Micheline Gravel, Dan Spiegelman, Alexandre Dionne‐Laporte, Cyrus Boelman, Fadi F. Hamdan, Jacques L. Michaud, Guy A. Rouleau, Berge A. Minassian, Guillaume Bourque, Patrick Cossette

    出版 2018
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  14. 14
    Mutations in the calcium-related gene IL1RAPL1 are associated with autism

    Mutations in the calcium-related gene IL1RAPL1 are associated with autism 由 Amélie Piton, Jacques L. Michaud, Boon‐Peng Hoh, Swaroop Aradhya, J Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, Ridha Joober, Éric Fombonne, Claude Marineau, Patrick Cossette, Marie‐Pierre Dubé, Parviz Haghighi, Pierre Drapeau, Philip A. Barker, S. Carbonetto, Guy A. Rouleau

    出版 2008
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  15. 15
    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function 由 Anna Fassio, Lysanne Patry, Sonia Congia, Franco Onofri, Amélie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranchi, Manuela Fadda, Anna Corradi, Pietro Baldelli, Line Lapointe, Judith St‐Onge, Caroline Meloche, Laurent Mottron, Flavia Valtorta, Dang Khoa Nguyen, Guy A. Rouleau, Fabio Benfenati, Patrick Cossette

    出版 2011
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  16. 16
    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

    Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 由 Todor Arsov, Katherine R. Smith, John A. Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J. Bromhead, Eva Andermann, Danya F. Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul A. Mullen, Frédérick Andermann, Sara Mole, Melanie Bahlo, Samuel F. Berkovic

    出版 2011
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  17. 17
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor 由 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

    出版 2012
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  18. 18
    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 由 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

    出版 2014
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  19. 19
    Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

    Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis 由 Katherine R. Smith, H H Dahl, Laura Canafoglia, E. Andermann, John A. Damiano, Michela Morbin, Amalia C. Bruni, Giorgio Giaccone, Patrick Cossette, Paul Säftig, Joachim Grötzinger, Michael Schwake, Frédérick Andermann, John F. Staropoli, Katherine B. Sims, Sara Mole, Silvana Franceschetti, Nora Alexander, Jonathan D. Cooper, Harold A. Chapman, Stirling Carpenter, Samuel F. Berkovic, Melanie Bahlo

    出版 2013
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  20. 20
    Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

    Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia 由 Amélie Piton, J Gauthier, Fadi F. Hamdan, Ronald G. Lafrenière, Yanlian Yang, Édouard Henrion, S. B. Laurent, Anne Noreau, Patrick H. Thibodeau, Liliane Karemera, Dan Spiegelman, Frédéric Kuku, J Duguay, Laurie Destroismaisons, Philippe Jolivet, M. Côté, Karine Lachapelle, Ousmane Diallo, A Raymond, Claude Marineau, Nathalie Champagne, Lan Xiong, Cláudia Gaspar, J-B Rivière, Julien Tarabeux, Patrick Cossette, Marie‐Odile Krebs, Judith L. Rapoport, Anjené Addington, Lynn E. DeLisi, Laurent Mottron, Ridha Joober, Éric Fombonne, Pierre Drapeau, Guy A. Rouleau

    出版 2010
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