Resultats de la cerca - Alexandre Dionne‐Laporte

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  1. 1
    De novo variants in sporadic cases of childhood onset schizophrenia

    De novo variants in sporadic cases of childhood onset schizophrenia per 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

    Publicat 2015
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  2. 2
    Loss-of-function de novo mutations play an important role in severe human neural tube defects

    Loss-of-function de novo mutations play an important role in severe human neural tube defects per Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar

    Publicat 2015
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  3. 3
    De Novo Mutations in Moderate or Severe Intellectual Disability

    De Novo Mutations in Moderate or Severe Intellectual Disability per Fadi F. Hamdan, Myriam Srour, José‐Mario Capo‐Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo, Édouard Henrion, Alexandre Dionne‐Laporte, Anne Fougerat, Alexey V. Pshezhetsky, Sunita Venkateswaran, Guy A. Rouleau, Jacques L. Michaud

    Publicat 2014
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  4. 4
    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 per 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

    Publicat 2018
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  5. 5
    IC‐P‐176: EPISTASIS ANALYSES INDICATE ASSOCIATION BETWEEN CEREBRAL AMYLOID DEPOSITION AND GENES INVOLVED IN IMMUNO‐RESPONSE

    IC‐P‐176: EPISTASIS ANALYSES INDICATE ASSOCIATION BETWEEN CEREBRAL AMYLOID DEPOSITION AND GENES INVOLVED IN IMMUNO‐RESPONSE per Andréa Lessa Benedet, Philippe Lemay, Sulantha Mathotaarachchi, Sara Mohades, Eduardo R. Zimmer, Alexandre Dionne‐Laporte, Cynthia Picard, Monica Shin, Seqian Wang, Maxime Parent, Lucas Porcello Schilling, Felix Carbonnell, Thomas Beaudry, Vladimir Fonov, Serge Gauthier, Guy A. Rouleau, Judes Poirier, Pedro Rosa‐Neto

    Publicat 2014
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  6. 6
    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

    RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population per 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

    Publicat 2016
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  7. 7
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

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

    Publicat 2012
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  8. 8
    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 per 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

    Publicat 2014
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  9. 9
    Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

    Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia per Typhaine Esteves, Alexandra Dürr, Emeline Mundwiller, José L. Loureiro, Maxime Boutry, Michael Gonzalez, Julie Gauthier, Khalid H. El-Hachimi, Christel Depienne, Marie‐Paule Muriel, Rafael F. Acosta Lebrigio, Marion Gaussen, Anne Noreau, Fiorella Speziani, Alexandre Dionne‐Laporte, Jean‐François Deleuze, Patrick A. Dion, Paula Coutinho, Guy A. Rouleau, Stephan Züchner, Alexis Brice, Giovanni Stévanin, Frédéric Darios

    Publicat 2014
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  10. 10
    Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

    Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia per Ziv Gan‐Or, Naïma Bouslam, Nazha Birouk, Alexandra Lissouba, Daniel B. Chambers, Julie Vérièpe, Alaura Androschuk, Sandra B. Laurent, Daniel Rochefort, Dan Spiegelman, Alexandre Dionne‐Laporte, Anna Szuto, Meijiang Liao, Denise A. Figlewicz, Ahmed Bouhouche, Ali Benomar, Mohamed Yahyaoui, Réda Ouazzani, Grace Yoon, Nicolas Dupré, Oksana Suchowersky, François V. Bolduc, J. Alex Parker, Patrick A. Dion, Pierre Drapeau, Guy A. Rouleau, Bouchra Ouled Amar Bencheikh

    Publicat 2016
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  11. 11
    Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

    Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia per Amir Boukhris, Rebecca Schüle, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, A. Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne‐Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vítor Tedim Cruz, Fanny Mochel, Paula Coutinho, Patrick A. Dion, Chokri Mhiri, Lüdger Schöls, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Alexis Brice, Alexandra Dürr, Stephan Züchner, Giovanni Stévanin

    Publicat 2013
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  12. 12
    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

    Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia per Marie Coutelier, Cyril Goizet, Alexandra Dürr, Florence Habarou, Sara Morais, Alexandre Dionne‐Laporte, Feifei Tao, Juliette Konop, Marion Stoll, Perrine Charles, Maxime Jacoupy, Raphaël Matusiak, Isabel Alonso, Chantal Tallaksen, Mathilde Mairey, Marina Kennerson, Marion Gaussen, Rebecca Schüle, Maxime Janin, Fanny Morice‐Picard, Christelle Durand, Christel Depienne, Patrick Calvas, Paula Coutinho, Jean-Marie Saudubray, Guy A. Rouleau, Alexis Brice, Garth A. Nicholson, Frédéric Darios, José L. Loureiro, Stephan Züchner, Chris Ottolenghi, Fanny Mochel, Giovanni Stévanin

    Publicat 2015
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  13. 13
    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

    Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 per Myriam Srour, Fadi F. Hamdan, Dianalee McKnight, Erica E. Davis, Hanna Mandel, Jeremy Schwartzentruber, Brissa Martin, Lysanne Patry, Christina Nassif, Alexandre Dionne‐Laporte, Luis H. Ospina, Emmanuelle Lemyre, Christine Massicotte, Rachel Laframboise, Bruno Maranda, Damian Labuda, Jean‐Claude Décarie, Françoise Rypens, Dorith Goldsher, Catherine Fallet‐Bianco, Jean‐François Soucy, Anne‐Marie Laberge, Catalina Maftei, Kym M. Boycott, Bernard Brais, Renée‐Myriam Boucher, Guy A. Rouleau, Nicholas Katsanis, Jacek Majewski, Orly Elpeleg, Mary K. Kukolich, Stavit A. Shalev, Jacques L. Michaud

    Publicat 2015
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  14. 14
    Draft genome sequence of the rubber tree Hevea brasiliensis

    Draft genome sequence of the rubber tree Hevea brasiliensis per Ahmad Yamin Abdul Rahman, Abhilash O Usharraj, Biswapriya B. Misra, Gincy P. Thottathil, Kandakumar Jayasekaran, Yun Feng, Shaobin Hou, Su Yean Ong, Fui Ling Ng, LingSze Lee, Hock Siew Tan, Muhd Khairul Luqman Muhd Sakaff, Beng Soon Teh, Bee Feong Khoo, Siti Suriawati Badai, Nurohaida Ab Aziz, Anton Yuryev, Bjarne Knudsen, Alexandre Dionne‐Laporte, Nokuthula Peace Mchunu, Qingyi Yu, Brennick J. Langston, Tracey Freitas, Aaron G Young, Rui Chen, Lei Wang, Nazalan Najimudin, Jennifer A. Saito, M. Shahid Alam

    Publicat 2013
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  15. 15
    <i>SMPD1</i> mutations, activity, and α‐synuclein accumulation in Parkinson's disease

    <i>SMPD1</i> mutations, activity, and α‐synuclein accumulation in Parkinson's disease per Roy N. Alcalay, Victoria Mallett, Benoît Vanderperre, Omid Tavassoly, Yves Dauvilliers, Richard Y. J. Wu, Jennifer A. Ruskey, Claire S. Leblond, Amirthagowri Ambalavanan, Sandra B. Laurent, Dan Spiegelman, Alexandre Dionne‐Laporte, Christopher Liong, Oren Levy, Stanley Fahn, Cheryl Waters, Sheng‐Han Kuo, Wendy K. Chung, Blair Ford, Karen Marder, Un Jung Kang, Sharon Hassin‐Baer, Lior Greenbaum, Jean‐François Trempe, Pavlina Wolf, Petra Oliva, Xiaokui Kate Zhang, Lorraine N. Clark, Mélanie Langlois, Patrick A. Dion, Edward A. Fon, Nicolas Dupré, Guy A. Rouleau, Ziv Gan‐Or

    Publicat 2019
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  16. 16
    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

    De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects per Andrea Accogli, Sara Calabretta, Judith St‐Onge, Nassima Boudrahem‐Addour, Alexandre Dionne‐Laporte, Pascal Joset, Silvia Azzarello‐Burri, Anita Rauch, Joel B. Krier, Elizabeth L. Fieg, J. Carl Pallais, Allyn McConkie‐Rosell, Marie McDonald, Sharon F. Freedman, Jean‐Baptiste Rivière, Joël Lafond‐Lapalme, Brittany Simpson, Robert J. Hopkin, Aurélien Trimouille, Julien Van‐Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H. Sherr, Mariasavina Severino, Guy A. Rouleau, Patricia T. Yam, Frédéric Charron, Myriam Srour, Maria T. Acosta, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak‐Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo D. Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves

    Publicat 2019
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