Clinical, neuroradiological, and molecular phenotyping of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations

Autor: Gerald V. Raymond, Yasmin D’Souza, Roberta La Piana, Mebratu Daba, Irakli Rtskhiladze, Catherine Argyriou, Christine Yergeau, Sébastien Lévesque, Anthony Cheung, Nancy Braverman, Emilie Riou, Geneviève Bernard, Tinatin Tkemaladze, Laura Adang

Publikováno v: Molecular Genetics and Metabolism. 132:iv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7bfd53188e0a335bb028c9f36bff419
https://doi.org/10.1016/s1096-7192(21)00088-3

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

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

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

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

Autor: Geneviève Bernard, Guillaume Sébire, Roberta La Piana, Emilie Riou, Luan T. Tran, Bernard Brais, Kether Guerrero, Sébastien Lévesque

Publikováno v: Neuropediatrics. 45(6)

Aicardi-Goutieres syndrome (AGS) is a rare genetic disorder with inflammatory immune-mediated pathogenesis. Disease onset is most commonly marked by recurrent fevers, irritability, and developmental regression in the 1st year of life. A stable phase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8808012c5aa64b4a87994c662d4fe35b
https://pubmed.ncbi.nlm.nih.gov/25343331

Effectiveness of interventions on early neurodevelopment of preterm infants: a systematic review and meta-analysis

Autor: Marilyn Aita, Gwenaëlle De Clifford Faugère, Andréane Lavallée, Nancy Feeley, Robyn Stremler, Émilie Rioux, Marie-Hélène Proulx

Publikováno v: BMC Pediatrics, Vol 21, Iss 1, Pp 1-17 (2021)

Abstract Background As preterm infants’ neurodevelopment is shaped by NICU-related factors during their hospitalization, it is essential to evaluate which interventions are more beneficial for their neurodevelopment at this specific time. The objec

Externí odkaz: https://doaj.org/article/279a2d238e8f45668be3541e796f5925

MO39 Acute combined central and peripheral nervous system demyelination in children

Autor: Tanja Adamovic, Emilie Riou, Geneviève Bernard, Michel Vanasse, Jean-Claude Décarie, Chantal Poulin, France Gauvin

Publikováno v: Clinical Neurophysiology. 119:S40

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4ee279b31751fbdf50f42c8ea415945b
https://doi.org/10.1016/s1388-2457(08)60150-9