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61.
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Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. [electronic resource] by
- Kabashi, Edor
- Lin, Li
- Tradewell, Miranda L
- Dion, Patrick A
- Bercier, Valérie
- Bourgouin, Patrick
- Rochefort, Daniel
- Bel Hadj, Samar
- Durham, Heather D
- Vande Velde, Christine
- Rouleau, Guy A
- Drapeau, Pierre
Producer: 20100329
In:
Human molecular genetics vol. 19
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62.
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Conserved pharmacological rescue of hereditary spastic paraplegia-related phenotypes across model organisms. [electronic resource] by
- Julien, Carl
- Lissouba, Alexandra
- Madabattula, Surya
- Fardghassemi, Yasmin
- Rosenfelt, Cory
- Androschuk, Alaura
- Strautman, Joel
- Wong, Clement
- Bysice, Andrew
- O'sullivan, Julia
- Rouleau, Guy A
- Drapeau, Pierre
- Parker, J Alex
- Bolduc, François V
Producer: 20161215
In:
Human molecular genetics vol. 25
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63.
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Mutations in VANGL1 associated with neural-tube defects. [electronic resource] by
- Kibar, Zoha
- Torban, Elena
- McDearmid, Jonathan R
- Reynolds, Annie
- Berghout, Joanne
- Mathieu, Melissa
- Kirillova, Irena
- De Marco, Patrizia
- Merello, Elisa
- Hayes, Julie M
- Wallingford, John B
- Drapeau, Pierre
- Capra, Valeria
- Gros, Philippe
Producer: 20070410
In:
The New England journal of medicine vol. 356
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64.
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Novel de novo SHANK3 mutation in autistic patients. [electronic resource] by
- Gauthier, Julie
- Spiegelman, Dan
- Piton, Amélie
- Lafrenière, Ronald G
- Laurent, Sandra
- St-Onge, Judith
- Lapointe, Line
- Hamdan, Fadi F
- Cossette, Patrick
- Mottron, Laurent
- Fombonne, Eric
- Joober, Ridha
- Marineau, Claude
- Drapeau, Pierre
- Rouleau, Guy A
Producer: 20090519
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 150B
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65.
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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. [electronic resource] by
- Capo-Chichi, José-Mario
- Boissel, Sarah
- Brustein, Edna
- Pickles, Sarah
- Fallet-Bianco, Catherine
- Nassif, Christina
- Patry, Lysanne
- Dobrzeniecka, Sylvia
- Liao, Meijiang
- Labuda, Damian
- Samuels, Mark E
- Hamdan, Fadi F
- Vande Velde, Christine
- Rouleau, Guy A
- Drapeau, Pierre
- Michaud, Jacques L
Producer: 20160106
In:
Journal of medical genetics vol. 52
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66.
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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. [electronic resource] by
- Hamdan, Fadi F
- Piton, Amélie
- Gauthier, Julie
- Lortie, Anne
- Dubeau, François
- Dobrzeniecka, Sylvia
- Spiegelman, Dan
- Noreau, Anne
- Pellerin, Stéphanie
- Côté, Mélanie
- Henrion, Edouard
- Fombonne, Eric
- Mottron, Laurent
- Marineau, Claude
- Drapeau, Pierre
- Lafrenière, Ronald G
- Lacaille, Jean Claude
- Rouleau, Guy A
- Michaud, Jacques L
Producer: 20090812
In:
Annals of neurology vol. 65
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67.
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Mutations in the calcium-related gene IL1RAPL1 are associated with autism. [electronic resource] by
- Piton, Amélie
- Michaud, Jacques L
- Peng, Huashan
- Aradhya, Swaroop
- Gauthier, Julie
- Mottron, Laurent
- Champagne, Nathalie
- Lafrenière, Ronald G
- Hamdan, Fadi F
- Joober, Ridha
- Fombonne, Eric
- Marineau, Claude
- Cossette, Patrick
- Dubé, Marie-Pierre
- Haghighi, Pejmun
- Drapeau, Pierre
- Barker, Philip A
- Carbonetto, Salvatore
- Rouleau, Guy A
Producer: 20090716
In:
Human molecular genetics vol. 17
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68.
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Neuroleptics as therapeutic compounds stabilizing neuromuscular transmission in amyotrophic lateral sclerosis. [electronic resource] by
- Patten, Shunmoogum A
- Aggad, Dina
- Martinez, Jose
- Tremblay, Elsa
- Petrillo, Janet
- Armstrong, Gary Ab
- La Fontaine, Alexandre
- Maios, Claudia
- Liao, Meijiang
- Ciura, Sorana
- Wen, Xiao-Yan
- Rafuse, Victor
- Ichida, Justin
- Zinman, Lorne
- Julien, Jean-Pierre
- Kabashi, Edor
- Robitaille, Richard
- Korngut, Lawrence
- Parker, J Alexander
- Drapeau, Pierre
Producer: 20190708
In:
JCI insight vol. 2
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69.
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Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. [electronic resource] by
- Kabashi, Edor
- El Oussini, Hajer
- Bercier, Valérie
- Gros-Louis, François
- Valdmanis, Paul N
- McDearmid, Jonathan
- Mejier, Inge A
- Dion, Patrick A
- Dupre, Nicolas
- Hollinger, David
- Sinniger, Jérome
- Dirrig-Grosch, Sylvie
- Camu, William
- Meininger, Vincent
- Loeffler, Jean-Philippe
- René, Frédérique
- Drapeau, Pierre
- Rouleau, Guy A
- Dupuis, Luc
Producer: 20131231
In:
Human molecular genetics vol. 22
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70.
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De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. [electronic resource] by
- Hamdan, Fadi F
- Daoud, Hussein
- Rochefort, Daniel
- Piton, Amélie
- Gauthier, Julie
- Langlois, Mathieu
- Foomani, Gila
- Dobrzeniecka, Sylvia
- Krebs, Marie-Odile
- Joober, Ridha
- Lafrenière, Ronald G
- Lacaille, Jean-Claude
- Mottron, Laurent
- Drapeau, Pierre
- Beauchamp, Miriam H
- Phillips, Michael S
- Fombonne, Eric
- Rouleau, Guy A
- Michaud, Jacques L
Producer: 20110124
In:
American journal of human genetics vol. 87
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71.
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Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. [electronic resource] by
- Gauthier, Julie
- Siddiqui, Tabrez J
- Huashan, Peng
- Yokomaku, Daisaku
- Hamdan, Fadi F
- Champagne, Nathalie
- Lapointe, Mathieu
- Spiegelman, Dan
- Noreau, Anne
- Lafrenière, Ronald G
- Fathalli, Ferid
- Joober, Ridha
- Krebs, Marie-Odile
- DeLisi, Lynn E
- Mottron, Laurent
- Fombonne, Eric
- Michaud, Jacques L
- Drapeau, Pierre
- Carbonetto, Salvatore
- Craig, Ann Marie
- Rouleau, Guy A
Producer: 20111114
In:
Human genetics vol. 130
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72.
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De novo truncating mutation in Kinesin 17 associated with schizophrenia. [electronic resource] by
- Tarabeux, Julien
- Champagne, Nathalie
- Brustein, Edna
- Hamdan, Fadi F
- Gauthier, Julie
- Lapointe, Mathieu
- Maios, Claudia
- Piton, Amélie
- Spiegelman, Dan
- Henrion, Edouard
- Millet, Bruno
- Rapoport, Judith L
- Delisi, Lynn E
- Joober, Ridha
- Fathalli, Ferid
- Fombonne, Eric
- Mottron, Laurent
- Forget-Dubois, Nadine
- Boivin, Michel
- Michaud, Jacques L
- Lafrenière, Ronald G
- Drapeau, Pierre
- Krebs, Marie-Odile
- Rouleau, Guy A
Producer: 20110113
In:
Biological psychiatry vol. 68
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73.
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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. [electronic resource] by
- Hamdan, Fadi F
- Gauthier, Julie
- Spiegelman, Dan
- Noreau, Anne
- Yang, Yan
- Pellerin, Stéphanie
- Dobrzeniecka, Sylvia
- Côté, Mélanie
- Perreau-Linck, Elizabeth
- Perreault-Linck, Elizabeth
- Carmant, Lionel
- D'Anjou, Guy
- Fombonne, Eric
- Addington, Anjene M
- Rapoport, Judith L
- Delisi, Lynn E
- Krebs, Marie-Odile
- Mouaffak, Faycal
- Joober, Ridha
- Mottron, Laurent
- Drapeau, Pierre
- Marineau, Claude
- Lafrenière, Ronald G
- Lacaille, Jean Claude
- Rouleau, Guy A
- Michaud, Jacques L
Producer: 20090211
In:
The New England journal of medicine vol. 360
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74.
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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. [electronic resource] by
- Gan-Or, Ziv
- Bouslam, Naima
- Birouk, Nazha
- Lissouba, Alexandra
- Chambers, Daniel B
- Vérièpe, Julie
- Androschuk, Alaura
- Laurent, Sandra B
- Rochefort, Daniel
- Spiegelman, Dan
- Dionne-Laporte, Alexandre
- Szuto, Anna
- Liao, Meijiang
- Figlewicz, Denise A
- Bouhouche, Ahmed
- Benomar, Ali
- Yahyaoui, Mohamed
- Ouazzani, Reda
- Yoon, Grace
- Dupré, Nicolas
- Suchowersky, Oksana
- Bolduc, Francois V
- Parker, J Alex
- Dion, Patrick A
- Drapeau, Pierre
- Rouleau, Guy A
- Ouled Amar Bencheikh, Bouchra
Publication details: American journal of human genetics 06 2016
In:
American journal of human genetics vol. 98
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75.
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Functional variants of POC5 identified in patients with idiopathic scoliosis. [electronic resource] by
- Patten, Shunmoogum A
- Margaritte-Jeannin, Patricia
- Bernard, Jean-Claude
- Alix, Eudeline
- Labalme, Audrey
- Besson, Alicia
- Girard, Simon L
- Fendri, Khaled
- Fraisse, Nicolas
- Biot, Bernard
- Poizat, Coline
- Campan-Fournier, Amandine
- Abelin-Genevois, Kariman
- Cunin, Vincent
- Zaouter, Charlotte
- Liao, Meijiang
- Lamy, Raphaelle
- Lesca, Gaetan
- Menassa, Rita
- Marcaillou, Charles
- Letexier, Melanie
- Sanlaville, Damien
- Berard, Jerome
- Rouleau, Guy A
- Clerget-Darpoux, Françoise
- Drapeau, Pierre
- Moldovan, Florina
- Edery, Patrick
Producer: 20150512
In:
The Journal of clinical investigation vol. 125
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76.
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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. [electronic resource] by
- Gan-Or, Ziv
- Bouslam, Naima
- Birouk, Nazha
- Lissouba, Alexandra
- Chambers, Daniel B
- Vérièpe, Julie
- Androschuk, Alaura
- Laurent, Sandra B
- Rochefort, Daniel
- Spiegelman, Dan
- Dionne-Laporte, Alexandre
- Szuto, Anna
- Liao, Meijiang
- Figlewicz, Denise A
- Bouhouche, Ahmed
- Benomar, Ali
- Yahyaoui, Mohamed
- Ouazzani, Reda
- Yoon, Grace
- Dupré, Nicolas
- Suchowersky, Oksana
- Bolduc, Francois V
- Parker, J Alex
- Dion, Patrick A
- Drapeau, Pierre
- Rouleau, Guy A
- Ouled Amar Bencheikh, Bouchra
Producer: 20171229
In:
American journal of human genetics vol. 98
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77.
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De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia. [electronic resource] by
- Gauthier, Julie
- Champagne, Nathalie
- Lafrenière, Ronald G
- Xiong, Lan
- Spiegelman, Dan
- Brustein, Edna
- Lapointe, Mathieu
- Peng, Huashan
- Côté, Mélanie
- Noreau, Anne
- Hamdan, Fadi F
- Addington, Anjené M
- Rapoport, Judith L
- Delisi, Lynn E
- Krebs, Marie-Odile
- Joober, Ridha
- Fathalli, Ferid
- Mouaffak, Fayçal
- Haghighi, Ali P
- Néri, Christian
- Dubé, Marie-Pierre
- Samuels, Mark E
- Marineau, Claude
- Stone, Eric A
- Awadalla, Philip
- Barker, Philip A
- Carbonetto, Salvatore
- Drapeau, Pierre
- Rouleau, Guy A
Producer: 20100602
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 107
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78.
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Restrictions on the Importation of Zebrafish into Canada Associated with Spring Viremia of Carp Virus. [electronic resource] by
- Hanwell, David
- Hutchinson, Sarah A
- Collymore, Chereen
- Bruce, Ashley E
- Louis, Rhain
- Ghalami, Ayoob
- Allison, W Ted
- Ekker, Marc
- Eames, B Frank
- Childs, Sarah
- Kurrasch, Deborah M
- Gerlai, Robert
- Thiele, Tod
- Scott, Ian
- Ciruna, Brian
- Dowling, James J
- McFarlane, Sarah
- Huang, Peng
- Wen, Xiao-Yan
- Akimenko, Marie-Andrée
- Waskiewicz, Andrew J
- Drapeau, Pierre
- Babiuk, Lorne A
- Dragon, Dan
- Smida, Andrea
- Buret, Andre Gerald
- O'Grady, Eoin
- Wilson, Joanna
- Sowden-Plunkett, Lois
- Robertson, Jennifer V
- Tropepe, Vincent
Producer: 20171026
In:
Zebrafish vol. 13 Suppl 1
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79.
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Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. [electronic resource] by
- Hamdan, Fadi F
- Gauthier, Julie
- Araki, Yoichi
- Lin, Da-Ting
- Yoshizawa, Yuhki
- Higashi, Kyohei
- Park, A-Reum
- Spiegelman, Dan
- Dobrzeniecka, Sylvia
- Piton, Amélie
- Tomitori, Hideyuki
- Daoud, Hussein
- Massicotte, Christine
- Henrion, Edouard
- Diallo, Ousmane
- Shekarabi, Masoud
- Marineau, Claude
- Shevell, Michael
- Maranda, Bruno
- Mitchell, Grant
- Nadeau, Amélie
- D'Anjou, Guy
- Vanasse, Michel
- Srour, Myriam
- Lafrenière, Ronald G
- Drapeau, Pierre
- Lacaille, Jean Claude
- Kim, Eunjoon
- Lee, Jae-Ran
- Igarashi, Kazuei
- Huganir, Richard L
- Rouleau, Guy A
- Michaud, Jacques L
Producer: 20110516
In:
American journal of human genetics vol. 88
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80.
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Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. [electronic resource] by
- Awadalla, Philip
- Gauthier, Julie
- Myers, Rachel A
- Casals, Ferran
- Hamdan, Fadi F
- Griffing, Alexander R
- Côté, Mélanie
- Henrion, Edouard
- Spiegelman, Dan
- Tarabeux, Julien
- Piton, Amélie
- Yang, Yan
- Boyko, Adam
- Bustamante, Carlos
- Xiong, Lan
- Rapoport, Judith L
- Addington, Anjené M
- DeLisi, J Lynn E
- Krebs, Marie-Odile
- Joober, Ridha
- Millet, Bruno
- Fombonne, Eric
- Mottron, Laurent
- Zilversmit, Martine
- Keebler, Jon
- Daoud, Hussein
- Marineau, Claude
- Roy-Gagnon, Marie-Hélène
- Dubé, Marie-Pierre
- Eyre-Walker, Adam
- Drapeau, Pierre
- Stone, Eric A
- Lafrenière, Ronald G
- Rouleau, Guy A
Producer: 20101007
In:
American journal of human genetics vol. 87
Availability: No items available.
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