Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Micheline Gravel"'
Autor:
Jean Monlong, Simon L Girard, Caroline Meloche, Maxime Cadieux-Dion, Danielle M Andrade, Ron G Lafreniere, Micheline Gravel, Dan Spiegelman, Alexandre Dionne-Laporte, Cyrus Boelman, Fadi F Hamdan, Jacques L Michaud, Guy Rouleau, Berge A Minassian, Guillaume Bourque, Patrick Cossette
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007285 (2018)
Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole
Externí odkaz:
https://doaj.org/article/14e578c305aa430d8da389b00059c0bc
Autor:
Orrin Devinsky, Samuel F. Berkovic, Catharine Freyer, Annapurna Poduri, Eric B. Geller, Amos D. Korczyn, Heidi E. Kirsch, Nathan B. Fountain, Rosemary Burgess, Jack M. Parent, Jocelyn F. Bautista, Susannah T. Bellows, Robert C. Knowlton, David Goldstein, Dennis J. Dlugos, Heather C Mefford, Anthony G Marson, Mike Smith, Sabrina Cristofaro, Erin L. Heinzen, Bassel Abou-Khalil, Michael P. Epstein, Douglas E. Crompton, Eileen P.G. Vining, Kevin McKenna, Steven Petrou, Anu Venkat, Eric H. Kossoff, Gretchen Von Allmen, Sheryl R. Haut, Ruben Kuzniecky, Juliann M. Paolicchi, Colin A Ellis, Rani K. Singh, Simon Glynn, Daniel H. Lowenstein, Liu Lin Thio, Lynette G. Sadleir, Rebecca Loeb, Norman Delanty, Terence J. O'Brien, Paul V. Motika, Peter Widdess-Walsh, Sara Kivity, Gregory D. Cascino, Slavé Petrovski, Ruth Ottman, Micheline Gravel, Andrew S. Allen, Jerry J. Shih, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Tracy A. Glauser, Judith L.Z. Weisenberg, Judith Bluvstein, Zaid Afawi, Phil Smith, Kevin F. Haas, Mark McCormack, Hadassa Goldberg-Stern, Sarah Paterson, Melodie R. Winawer, Mark I. Rees, Saul A. Mullen, Patrick Cossette, Rhys H. Thomas
Publikováno v:
Epilepsia
OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A quantitative, data-driven approach may augment traditional electroclinical classification and shed ne
Autor:
C Paradis, G Leclerc, Caroline Meloche, Patrick Cossette, Micheline Gravel, A. Des Roches, Maxime Cadieux-Dion, Jean Paradis, Philippe Bégin
Publikováno v:
Journal of clinical immunology. 39(1)
Cryofibrinogenemia is a rare cryopathy presenting as acrocyanosis following exposure to cold. Familial presentation has been described but the underlying molecular cause remained undetermined.Forty (40) members from a large family with an initial dia
Autor:
Patrick May, Simon Girard, Merle Harrer, Dheeraj R Bobbili, Julian Schubert, Stefan Wolking, Felicitas Becker, Pamela Lachance-Touchette, Caroline Meloche, Micheline Gravel, Cristina E Niturad, Julia Knaus, Carolien De Kovel, Mohamad Toliat, Anne Polvi, Michele Iacomino, Rosa Guerrero-López, Stéphanie Baulac, Carla Marini, Holger Thiele, Janine Altmüller, Kamel Jabbari, Ann-Kathrin Ruppert, Wiktor Jurkowski, Dennis Lal, Raffaella Rusconi, Sandrine Cestèle, Benedetta Terragni, Ian D Coombs, Christopher A Reid, Pasquale Striano, Hande Caglayan, Auli Siren, Kate Everett, Rikke S Møller, Helle Hjalgrim, Hiltrud Muhle, Ingo Helbig, Wolfram S Kunz, Yvonne G Weber, Sarah Weckhuysen, Peter De Jonghe, Sanjay M Sisodiya, Rima Nabbout, Silvana Franceschetti, Antonietta Coppola, Maria S Vari, Dorothée Kasteleijn-Nolst Trenité, Betul Baykan, Ugur Ozbek, Nerses Bebek, Karl M Klein, Felix Rosenow, Dang K Nguyen, François Dubeau, Lionel Carmant, Anne Lortie, Richard Desbiens, Jean-François Clément, Cécile Cieuta-Walti, Graeme J Sills, Pauls Auce, Ben Francis, Michael R Johnson, Anthony G Marson, Bianca Berghuis, Josemir W Sander, Andreja Avbersek, Mark McCormack, Gianpiero L Cavalleri, Norman Delanty, Chantal Depondt, Martin Krenn, Fritz Zimprich, Sarah Peter, Marina Nikanorova, Robert Kraaij, Jeroen van Rooij, Rudi Balling, M Arfan Ikram, André G Uitterlinden, Giuliano Avanzini, Stephanie Schorge, Steven Petrou, Massimo Mantegazza, Thomas Sander, Eric LeGuern, Jose M Serratosa, Bobby P C Koeleman, Aarno Palotie, Anna-Elina Lehesjoki, Michael Nothnagel, Peter Nürnberg, Snezana Maljevic, Federico Zara, Patrick Cossette, Roland Krause, Holger Lerche, Edoardo Ferlazzo, Carlo di Bonaventura, Angela La Neve, Paolo Tinuper, Francesca Bisulli, Aglaia Vignoli, Giuseppe Capovilla, Giovanni Crichiutti, Antonio Gambardella, Vincenzo Belcastro, Amedeo Bianchi, Destina Yalçın, Gulsen Dizdarer, Kezban Arslan, Zuhal Yapıcı, Demet Kuşcu, Costin Leu, Kristin Heggeli, Joseph Willis, Sarah R Langley, Andrea Jorgensen, Prashant Srivastava, Sarah Rau, Christian Hengsbach, Anja C.M. Sonsma
Publikováno v:
The Lancet Neurology
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
The Lancet Neurology, Elsevier, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
Lancet Neurology, 17(8), 699-708. Lancet Publishing Group
EPICURE Consortium, EuroEPINOMICS CoGIE Consortium & EpiPGX Consortium 2018, ' Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies : an exome-based case-control study ', Lancet Neurology, vol. 17, no. 8, pp. 699-708 . https://doi.org/10.1016/S1474-4422(18)30215-1
The Lancet Neurology, 2018, 17 (8), pp.699-708. ⟨10.1016/S1474-4422(18)30215-1⟩
The lancet neurology
LANCET NEUROLOGY
The Lancet Neurology, 17(8), 699. Lancet Publishing Group
BACKGROUND: Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2a7ebc4483d5ba5e9aac0991ff234c
https://hal.archives-ouvertes.fr/hal-02352036
https://hal.archives-ouvertes.fr/hal-02352036
Autor:
Alexandre Dionne-Laporte, Ron G. Lafreniere, Caroline Meloche, Cyrus Boelman, Jean Monlong, Danielle M. Andrade, Simon Girard, Jacques L. Michaud, Guy A. Rouleau, Dan Spiegelman, Patrick Cossette, Berge A. Minassian, Guillaume Bourque, Micheline Gravel, Fadi F. Hamdan, Maxime Cadieux-Dion
Publikováno v:
PLoS Genetics, Vol 14, Iss 4, p e1007285 (2018)
PLoS Genetics
PLoS Genetics
Epilepsy will affect nearly 3% of people at some point during their lifetime. Previous copy number variants (CNVs) studies of epilepsy have used array-based technology and were restricted to the detection of large or exonic events. In contrast, whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca5913980c868e935fcdba27888b5578
Autor:
Patrick, May, Simon, Girard, Merle, Harrer, Dheeraj R, Bobbili, Julian, Schubert, Stefan, Wolking, Felicitas, Becker, Pamela, Lachance-Touchette, Caroline, Meloche, Micheline, Gravel, Cristina E, Niturad, Julia, Knaus, Carolien, De Kovel, Mohamad, Toliat, Anne, Polvi, Michele, Iacomino, Rosa, Guerrero-López, Stéphanie, Baulac, Carla, Marini, Holger, Thiele, Janine, Altmüller, Kamel, Jabbari, Ann-Kathrin, Ruppert, Wiktor, Jurkowski, Dennis, Lal, Raffaella, Rusconi, Sandrine, Cestèle, Benedetta, Terragni, Ian D, Coombs, Christopher A, Reid, Pasquale, Striano, Hande, Caglayan, Auli, Siren, Kate, Everett, Rikke S, Møller, Helle, Hjalgrim, Hiltrud, Muhle, Ingo, Helbig, Wolfram S, Kunz, Yvonne G, Weber, Sarah, Weckhuysen, Peter De, Jonghe, Sanjay M, Sisodiya, Rima, Nabbout, Silvana, Franceschetti, Antonietta, Coppola, Maria S, Vari, Dorothée, Kasteleijn-Nolst Trenité, Betul, Baykan, Ugur, Ozbek, Nerses, Bebek, Karl M, Klein, Felix, Rosenow, Dang K, Nguyen, François, Dubeau, Lionel, Carmant, Anne, Lortie, Richard, Desbiens, Jean-François, Clément, Cécile, Cieuta-Walti, Graeme J, Sills, Pauls, Auce, Ben, Francis, Michael R, Johnson, Anthony G, Marson, Bianca, Berghuis, Josemir W, Sander, Andreja, Avbersek, Mark, McCormack, Gianpiero L, Cavalleri, Norman, Delanty, Chantal, Depondt, Martin, Krenn, Fritz, Zimprich, Sarah, Peter, Marina, Nikanorova, Robert, Kraaij, Jeroen, van Rooij, Rudi, Balling, M Arfan, Ikram, André G, Uitterlinden, Giuliano, Avanzini, Stephanie, Schorge, Steven, Petrou, Massimo, Mantegazza, Thomas, Sander, Eric, LeGuern, Jose M, Serratosa, Bobby P C, Koeleman, Aarno, Palotie, Anna-Elina, Lehesjoki, Michael, Nothnagel, Peter, Nürnberg, Snezana, Maljevic, Federico, Zara, Patrick, Cossette, Roland, Krause, Holger, Lerche, Anja C M, Sonsma
Publikováno v:
The Lancet. Neurology. 17(8)
Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in
Autor:
Eileen P.G. Vining, Patrick Cossette, Mike Smith, P. E. M. Smith, Zaid Afawi, G. D. Cascino, Jocelyn F. Bautista, EJ Cops, Robert C. Knowlton, Tracy A. Glauser, Anu Venkat, Peter Widdess-Walsh, Sara Kivity, Mark I. Rees, Kevin McKenna, Amos D. Korczyn, Douglas E. Crompton, Saul A. Mullen, Heidi E. Kirsch, Nathan B. Fountain, Sheryl R. Haut, Slavé Petrovski, Andrew S. Allen, Sarah I. Garry, Anthony G Marson, Bassel Abou-Khalil, Rhys H. Thomas, Jerry J. Shih, Michael P. Epstein, Eric H. Kossoff, Winawer, Liu Lin Thio, Daniel H. Lowenstein, Dennis J. Dlugos, Rosemary Burgess, Eric B. Geller, Micheline Gravel, Jack M. Parent, Simon Glynn, Norman Delanty, Rebecca Loeb, Terence J. O'Brien, Ingrid E. Scheffer, Joseph I Sirven, William O. Pickrell, Judith L.Z. Weisenberg, Mark McCormack, Erin L. Heinzen, Judith Bluvstein, David Goldstein, Hadassa Goldberg-Stern, Sarah Paterson, Rinki Singh, Sabrina Cristofaro, Ruth Ottman, Susannah T. Bellows, R. Kuzniecky, Paul V. Motika, Heather C Mefford, Catharine Freyer, Annapurna Poduri, Juliann M. Paolicchi, Orrin Devinsky, Kevin Haas, Samuel F. Berkovic, Von, Allmen, G, Lynette G. Sadleir
Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::867f4cc029d003ee18e1be0cfd54d18b
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdf
https://cronfa.swan.ac.uk/Record/cronfa34711/Download/34711__17853__8813e43263704468ac9f1a6b73e2cbb7.pdf
Autor:
Eva Andermann, Caroline Meloche, Patrick Cossette, Marie-France Rioux, Dang Khoa Nguyen, Micheline Gravel, Caroline Martin, L. Carmant
Publikováno v:
Clinical Genetics. 86:570-574
Familial focal epilepsy with variable foci (FFEVF) is a heterogeneous epilepsy syndrome originally described in the French-Canadian (FC) population. Mutations in DEPDC5 have recently been identified in multiple cases of FFEVF as well as in a wide spe
Autor:
Pamela Lachance-Touchette, Micheline Gravel, Chantal Poulin, Lionel Carmant, Patrick Cossette, Caroline Martin
Publikováno v:
Epilepsia. 51:1894-1897
Summary Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE a
Publikováno v:
Canadian journal of neuroscience nursing. 36(3)
We undertook a retrospective study of 5,189 telephone calls made between January 2004 and June 2011 through our adult epilepsy clinic hotline to a single epileptologist initially and two epileptologists from June 2010 onwards. The majority of calls w