Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Alexandre D. Laporte"'
Autor:
Calwing Liao, Alexandre D. Laporte, Dan Spiegelman, Fulya Akçimen, Ridha Joober, Patrick A. Dion, Guy A. Rouleau
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-7 (2019)
A recent GWAS reported 12 genetic loci for attention deficit/hyperactivity disorder (ADHD). Here, Liao et al. perform transcriptomic imputation using these data and 12 brain-relevant tissues from GTEx and CMC to identify 9 genes associated with ADHD
Externí odkaz:
https://doaj.org/article/98989c48e5614c72b3a29f0f4c4ddced
Autor:
Calwing Liao, Faezeh Sarayloo, Veikko Vuokila, Daniel Rochefort, Fulya Akçimen, Simone Diamond, Gabrielle Houle, Alexandre D. Laporte, Dan Spiegelman, Qin He, Hélène Catoire, Patrick A. Dion, Guy A. Rouleau
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Objective: Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes. STK32B was signifi
Externí odkaz:
https://doaj.org/article/1b7dca9c79064eee9686d420cea20d75
Autor:
Jean-Baptiste Rivière, Joël Lafond-Lapalme, Myriam Srour, Guy A. Rouleau, Andrea Accogli, Judith St-Onge, Alexandre D. Laporte, Nassima Addour-Boudrahem
Publikováno v:
Journal of Child Neurology. 35:106-110
The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinoc
Autor:
Alexandre D. Laporte, Fulya Akçimen, Ridha Joober, Guy A. Rouleau, Dan Spiegelman, Calwing Liao, Patrick A. Dion
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-7 (2019)
Nature Communications
Nature Communications
Attention deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental psychiatric disorder. Genome-wide association studies (GWAS) have identified several loci associated with ADHD. However, understanding the biological relevance of these ge
Miserableness is a behavioural trait that is characterized by strong negative feelings in an individual. Although environmental factors tend to invoke miserableness, it is common to feel miserable ‘for no reason’, suggesting an innate, potential
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96a5e627d2777fe3b6abaccd01a1798a
Autor:
Alex Rajput, Dan Spiegelman, Fulya Akçimen, Alexandre D. Laporte, Patrick A. Dion, Daniel Rochefort, Calwing Liao, Faezeh Sarayloo, Gabrielle Houle, Guy A. Rouleau, Qin He
The genetic factors predisposing to essential tremor (ET), of one of the most common movement disorders, remains largely unknown. While current studies have examined the contribution of both common and rare genetic variants, very few have investigate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abd2c74fdf631e5ad241ee77378f5f27
https://doi.org/10.1101/580753
https://doi.org/10.1101/580753
Autor:
Fulya Akçimen, Daniel Rochefort, Qin He, Faezeh Sarayloo, Alexandre D. Laporte, Patrick A. Dion, Hélène Catoire, Guy A. Rouleau, Dan Spiegelman, Simone Diamond, Calwing Liao
Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes.STK32Bwas significantly associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e55d62948591fc1f74ef27975783b65e
Autor:
Alexandre D. Laporte, Judith St-Onge, Laura Russell, Myriam Srour, Jean-Baptiste Rivière, Guillaume Sébire, Nassima Addour-Boudrahem, Christine Saint-Martin, Guy A. Rouleau, Andrea Accogli
Publikováno v:
Neurogenetics. 20(2)
Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA
Autor:
Simon Girard, Guy A. Rouleau, Alexandre D. Laporte, Patrick A. Dion, Qin He, Calwing Liao, Gabrielle Houle
Publikováno v:
Parkinsonismrelated disorders. 61
Autor:
Patrick Cossette, Zoha Kibar, Maxime Cadieux-Dion, Helen Brittain, Andrew E. Fry, Emily Fassi, Edward Blair, Simone Martinelli, Paul J. Benke, Guy D'Anjou, Alexandre D. Laporte, Berge A. Minassian, Sylvia Stockler, Tyson L Ware, David R. FitzPatrick, Weimin Bi, Amy L Schneider, Jill A. Rosenfeld, Shekeeb S. Mohammad, Jacques L. Michaud, Carlos A. Bacino, Joss Shelagh, Samuel F. Berkovic, Stéphane Auvin, Yunru Shao, Sylvia Dobrzeniecka, Kelly Mo, Cory Tam, Nicole Corsten-Janssen, Wendy K. Chung, Renee-Myriam Boucher, Alain Verloes, Fadi F. Hamdan, Bronwyn Kerr, Frédéric Tran Mau-Them, Martina Bebin, Philippe M. Campeau, Dara V.F. Albert, Guy A. Rouleau, Quinn Stein, Anne Lortie, Susan M. Hiatt, Lubov Blumkin, Boris Keren, Dan Spiegelman, Saadet Mercimek-Mahmutoglu, Ronald G. Lafrenière, Marie-Christine Nougues, Rhys H. Thomas, Erica H. Gerkes, Elsa Rossignol, Bruno Dallapiccola, Klaas J. Wierenga, Natalie Canham, Monica H. Wojcik, Caroline Meloche, Moira Blyth, Cyril Mignot, Heather C Mefford, Ledia Brunga, D. L. Jones, François Dubeau, Kyle Retterer, James J. O'Byrne, Christine Massicotte, Vincenzo Leuzzi, Caroline Nava, Ingrid E. Scheffer, Erik-Jan Kamsteeg, Cyrus Boelman, Megan T. Cho, Gabriela Purcarin, Brigid M. Regan, Jean Monlong, Simon Girard, Philippe Major, Marguerite Miguet, Katrin Õunap, Yu Chi Liu, Guillaume Bourque, Myriam Srour, Ousmane Diallo, Emilie Riou, Lionel Carmant, Seema R. Lalani, Christina Nassif, Robert Roger Lebel, Anna Lehman, Georgie Hollingsworth, Stéphanie Jacques, Sunita Venkateswaran, Marco Tartaglia, Candace T. Myers, Ange-Line Bruel, Danielle M. Andrade, Imad Jarjour, Peyman Bizargity, Sara J. Dorison, Jane A. Hurst, Richard E. Frye, Lynette G. Sadleir, Alan Donaldson, Fernando Scaglia, Philippe Lemay, Paola Diadori, Laura Davis-Keppen
Publikováno v:
American Journal of Human Genetics, 101, 664-685
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. 〈10.1016/j.ajhg.2017.09.008〉
American Journal of Human Genetics, 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, 101(5), 664-685. CELL PRESS
Hamdan, F F, Myers, C T, Cossette, P, Lemay, P, Spiegelman, D, Laporte, A D, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, M T, Rosenfeld, J A, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, B M, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, D R, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, A E, Thomas, R H, Shelagh, J, Hurst, J A, Brittain, H, Blyth, M, Lebel, R R, Gerkes, E H, Davis-Keppen, L, Stein, Q, Chung, W K, Dorison, S J, Benke, P J, Fassi, E, Corsten-Janssen, N, Kamsteeg, E-J, Mau-Them, F T, Bruel, A-L, Verloes, A & Õunap, K & Wojcik, M H 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics, vol. 101, no. 5, pp. 664-685 . https://doi.org/10.1016/j.ajhg.2017.09.008
American Journal of Human Genetics, 101, 5, pp. 664-685
Kerr, B & et al 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.09.008
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. 〈10.1016/j.ajhg.2017.09.008〉
American Journal of Human Genetics, 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685. ⟨10.1016/j.ajhg.2017.09.008⟩
American Journal of Human Genetics, 101(5), 664-685. CELL PRESS
Hamdan, F F, Myers, C T, Cossette, P, Lemay, P, Spiegelman, D, Laporte, A D, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, M T, Rosenfeld, J A, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, B M, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, D R, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, A E, Thomas, R H, Shelagh, J, Hurst, J A, Brittain, H, Blyth, M, Lebel, R R, Gerkes, E H, Davis-Keppen, L, Stein, Q, Chung, W K, Dorison, S J, Benke, P J, Fassi, E, Corsten-Janssen, N, Kamsteeg, E-J, Mau-Them, F T, Bruel, A-L, Verloes, A & Õunap, K & Wojcik, M H 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics, vol. 101, no. 5, pp. 664-685 . https://doi.org/10.1016/j.ajhg.2017.09.008
American Journal of Human Genetics, 101, 5, pp. 664-685
Kerr, B & et al 2017, ' High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2017.09.008
Item does not contain fulltext Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e6b43223d1c8b9217763bad5e995f37
http://hdl.handle.net/2066/182558
http://hdl.handle.net/2066/182558