Søgeresultater - Jean‐Claude Décarie
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1
A phase 2 study of trametinib for patients with pediatric glioma or plexiform neurofibroma with refractory tumor and activation of the MAPK/ERK pathway: TRAM-01 af Sébastien Perreault, Valérie Larouche, Uri Tabori, Cynthia Hawkin, Sarah Lippé, Benjamin Ellezam, Jean‐Claude Décarie, Yves Théorêt, Marie‐Élaine Métras, Serge Sultan, Édith Cantin, Marie-Ève Routhier, Maxime Caru, Geneviève Legault, Éric Bouffet, Lucie Lafay‐Cousin, Juliette Hukin, Craig Erker, Nada Jabado
Udgivet 2019Artigo -
2
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness af Isabelle Perrault, Fadi F. Hamdan, Marlène Rio, José‐Mario Capo‐Chichi, Nathalie Boddaert, Jean‐Claude Décarie, Bruno Maranda, Rima Nabbout, Michel Sylvain, Anne Lortie, Philippe P. Roux, Elsa Rossignol, Xavier Gérard, Giulia Barcia, Patrick Berquin, Arnold Münnich, Guy A. Rouleau, Josseline Kaplan, Jean‐Michel Rozet, Jacques L. Michaud
Udgivet 2014Artigo -
3
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy af Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F. Hamdan, So-Hee Lim, Catherine Brunel‐Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T. R. M. Stumpel, Michèl A.A.P. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra, Jacques L. Michaud
Udgivet 2014Artigo -
4
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 af 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
Udgivet 2015Artigo -
5
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy af Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein
Udgivet 2013Artigo
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Biology
Gene
Genetics
Mutation
Phenotype
Atrophy
Loss function
Medicine
Missense mutation
Amino acid
Asparagine
Asparagine synthetase
Astrobiology
Biochemistry
Blindness
Cancer research
Cerebral atrophy
Compound heterozygosity
Cortical blindness
Ecology
Epilepsy
Exome
Exome sequencing
Glioma
Glutamate receptor
Glutamine
Hereditary spastic paraplegia
Identification (biology)
Internal medicine
Joubert syndrome