Works matching AU Rochefort, Daniel

Results: 26

Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00813

By:

Liao, Calwing;
Sarayloo, Faezeh;
Vuokila, Veikko;
Rochefort, Daniel;
Akçimen, Fulya;
Diamond, Simone;
Houle, Gabrielle;
Laporte, Alexandre D.;
Spiegelman, Dan;
He, Qin;
Catoire, Hélène;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long‐Term Survivors' Management.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 5, p. 1, doi. 10.1002/ajmg.a.63974

By:

McAdam, Alexa;
Ito, Yoko A.;
Richard, Marilyn;
Spiegelman, Dan;
Rochefort, Daniel;
Xiong, Lan;
Oskoui, Maryam;
Zielinski, David;
Rouleau, Guy A.;
Zhou, Sirui;
Boykott, Kym M.;
De Bie, Isabelle

Publication type:

Article

Multiomics Analyses Identify Genes and Pathways Relevant to Essential Tremor.

Published in:

2020

By:

Liao, Calwing;
Sarayloo, Faezeh;
Rochefort, Daniel;
Houle, Gabrielle;
Akçimen, Fulya;
He, Qin;
Laporte, Alexandre D.;
Spiegelman, Dan;
Poewe, Werner;
Berg, Daniela;
Müller, Stefanie;
Hopfner, Franziska;
Deuschl, Günther;
Kuhlenbäeumer, Gregor;
Rajput, Alex;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

journal article

Analysis of the effects of rare variants on splicing identifies alterations in GABA<sub>A</sub> receptor genes in autism spectrum disorder individuals.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 7, p. 749, doi. 10.1038/ejhg.2012.243

By:

Piton, Amélie;
Jouan, Loubna;
Rochefort, Daniel;
Dobrzeniecka, Sylvia;
Lachapelle, Karine;
Dion, Patrick A;
Gauthier, Julie;
Rouleau, Guy A

Publication type:

Article

Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.

Published in:

PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225186

By:

Sarayloo, Faezeh;
Dionne-Laporte, Alexandre;
Catoire, Helene;
Rochefort, Daniel;
Houle, Gabrielle;
Ross, Jay P.;
Akçimen, Fulya;
Barros Oliveira, Rachel De;
Turecki, Gustavo;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.

Published in:

Nature Genetics, 2002, v. 32, n. 3, p. 384, doi. 10.1038/ng1002

By:

Howard, Heidi C.;
Mount, David B.;
Rochefort, Daniel;
Byun, Nellie;
Dupré, Nicolas;
Lu, Jianming;
Fan, Xuemo;
Song, Luyan;
Rivière, Jean-Baptiste;
Prévost, Claude;
Horst, Jürgen;
Simonati, Alessandro;
Lemcke, Beate;
Welch, Rick;
England, Roger;
Zhan, Frank Q.;
Mercado, Adriana;
Siesser, William B.;
George, Alfred L.;
McDonald, Michael P.

Publication type:

Article

Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.

Published in:

2008

By:

Shekarabi, Masoud;
Girard, Nathalie;
Rivière, Jean-Baptiste;
Dion, Patrick;
Houle, Martin;
Toulouse, André;
Lafrenière, Ronald G.;
Vercauteren, Freya;
Hince, Pascale;
Laganiere, Janet;
Rochefort, Daniel;
Faivre, Laurence;
Samuels, Mark;
Rouleau, Guy A.;
Rivière, Jean-Baptiste;
Toulouse, André;
Lafrenière, Ronald G

Publication type:

journal article

C9orf72 Repeat Expansions in Rapid Eye Movement Sleep Behaviour Disorder.

Published in:

Canadian Journal of Neurological Sciences, 2014, v. 41, n. 6, p. 759, doi. 10.1017/cjn.2014.39

By:

Daoud, Hussein;
Postuma, Ronald B.;
Bourassa, Cynthia V.;
Rochefort, Daniel;
Gauthier, Maude Turcotte;
Montplaisir, Jacques;
Gagnon, Jean-Francois;
Arnulf, Isabelle;
Dauvilliers, Yves;
Charley, Christelle Monaca;
Inoue, Yuichi;
Sasai, Taeko;
Hogl, Birgit;
Desautels, Alex;
Frauscher, Birgit;
De Cock, Valérie Cochen;
Rouleau, Guy A.;
Dion, Patrick A.

Publication type:

Article

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl− co-transporter 3.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2703, doi. 10.1093/hmg/ddn172

By:

Salin-Cantegrel, Adèle;
Shekarabi, Masoud;
Holbert, Sébastien;
Dion, Patrick;
Rochefort, Daniel;
Laganière, Janet;
Dacal, Sandra;
Hince, Pascale;
Karemera, Liliane;
Gaspar, Claudia;
Lapointe, Jean-Yves;
Rouleau, Guy A.

Publication type:

Article

Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males.

Published in:

American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 6, p. 335, doi. 10.1002/ajmg.b.32683

By:

Ambalavanan, Amirthagowri;
Chaumette, Boris;
Zhou, Sirui;
Xie, Pingxing;
He, Qin;
Spiegelman, Dan;
Dionne‐Laporte, Alexandre;
Bourassa, Cynthia V.;
Therrien, Martine;
Rochefort, Daniel;
Xiong, Lan;
Dion, Patrick A.;
Joober, Ridha;
Rapoport, Judith L.;
Girard, Simon L.;
Rouleau, Guy A.

Publication type:

Article

Loss of Neuronal Potassium/Chloride Cotransporter 3 (KCC3) Is Responsible for the Degenerative Phenotype in a Conditional Mouse Model of Hereditary Motor and Sensory Neuropathy Associated with Agenesis of the Corpus Callosum.

Published in:

Journal of Neuroscience, 2012, v. 32, n. 11, p. 3865, doi. 10.1523/JNEUROSCI.3679-11.2012

By:

Shekarabi, Masoud;
Moldrich, Randal X.;
Rasheed, Sarah;
Salin-Cantegrel, Adéle;
Laganière, Janet;
Rochefort, Daniel;
Hince, Pascale;
Huot, Karine;
Gaudet, Rébecca;
Kurniawan, Nyoman;
Sotocinal, Susana G.;
Ritchie, Jennifer;
Dion, Patrick A.;
Mogil, Jeffrey S.;
Richards, Linda J.;
Rouleau, Guy A.

Publication type:

Article

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Published in:

Annals of Neurology, 2004, v. 55, n. 5, p. 757

By:

Dominique J. Verlaan;
Sandra B. Laurent;
Daniel L. Rochefort;
Christina L. Liquori;
Douglas A. Marchuk;
Adrian M. Siegel;
Guy A. Rouleau

Publication type:

Article

PABP2 polyalanine tract expansion causes intranuclear inclusions in oculopharyngeal muscular dystrophy.

Published in:

Annals of Neurology, 2000, v. 48, n. 5, p. 798, doi. 10.1002/1531-8249(200011)48:5<798::AID-ANA16>3.0.CO;2-U

By:

Shanmugam, Vijayalakshmi;
Dion, Patrick;
Rochefort, Daniel;
Laganière, Janet;
Brais, Bernard;
Rouleau, Guy A.

Publication type:

Article

Mutational analysis of neurotensin in familial restless legs syndrome.

Published in:

Movement Disorders, 2004, v. 19, n. 1, p. 90, doi. 10.1002/mds.10617

By:

Alex Desautels;
Gustavo Turecki;
Lan Xiong;
Daniel Rochefort;
Jacques Montplaisir

Publication type:

Article

A direct interaction between two Restless Legs Syndrome predisposing genes: MEIS1 and SKOR1.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30665-6

By:

Catoire, Helene;
Sarayloo, Faezeh;
Mourabit Amari, Karim;
Apuzzo, Sergio;
Grant, Alanna;
Rochefort, Daniel;
Xiong, Lan;
Montplaisir, Jacques;
Earley, Christopher J.;
Turecki, Gustavo;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

NF2 Tumor suppressor gene.

Published in:

NeuroMolecular Medicine, 2003, v. 3, n. 1, p. 41, doi. 10.1385/NMM:3:1:41

By:

Szijan, Irene;
Rochefort, Daniel;
Bruder, Carl;
Surace, Ezequiel;
Machiavelli, Gloria;
Dalamon, Viviana;
Cotignola, Javier;
Ferreiro, Veronica;
Campero, Alvaro;
Basso, Armando;
Dumanski, Jan;
Rouleau, Guy

Publication type:

Article

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Published in:

2013

By:

Lesage, Suzanne;
Le Ber, Isabelle;
Condroyer, Christel;
Broussolle, Emmanuel;
Gabelle, Audrey;
Thobois, Stéphane;
Pasquier, Florence;
Mondon, Karl;
Dion, Patrick A;
Rochefort, Daniel;
Rouleau, Guy A;
Dürr, Alexandra;
Brice, Alexis;
French Parkinson's Disease Genetics (PDG) Study Group;
French Parkinson’s Disease Genetics Study Group

Publication type:

journal article

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. 385

By:

Lesage, Suzanne;
Le Ber, Isabelle;
Condroyer, Christel;
Broussolle, Emmanuel;
Gabelle, Audrey;
Thobois, Stéphane;
Pasquier, Florence;
Mondon, Karl;
Dion, Patrick A.;
Rochefort, Daniel;
Rouleau, Guy A.;
Dürr, Alexandra;
Brice, Alexis

Publication type:

Article

Spinal cord extracts of amyotrophic lateral sclerosis spread TDP-43 pathology in cerebral organoids.

Published in:

PLoS Genetics, 2023, v. 18, n. 2, p. 1, doi. 10.1371/journal.pgen.1010606

By:

Tamaki, Yoshitaka;
Ross, Jay P.;
Alipour, Paria;
Castonguay, Charles-Étienne;
Li, Boting;
Catoire, Helene;
Rochefort, Daniel;
Urushitani, Makoto;
Takahashi, Ryosuke;
Sonnen, Joshua A.;
Stifani, Stefano;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

Inhibition of the kinase WNK1/HSN2 ameliorates neuropathic pain by restoring GABA inhibition.

Published in:

Science Signaling, 2016, v. 9, n. 421, p. 1, doi. 10.1126/scisignal.aad0163

By:

Kahle, Kristopher T.;
Schmouth, Jean-François;
Lavastre, Valérie;
Latremoliere, Alban;
Jinwei Zhang;
Andrews, Nick;
Takao Omura;
Laganière, Janet;
Rochefort, Daniel;
Hince, Pascale;
Castonguay, Geneviève;
Gaudet, Rébecca;
Mapplebeck, Josiane C. S.;
Sotocinal, Susana G.;
JingJing Duan;
Ward, Catherine;
Khanna, Arjun R.;
Mogil, Jeffrey S.;
Dion, Patrick A.;
Woolf, Clifford J.

Publication type:

Article

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.

Published in:

Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248

By:

Berryer, Martin H.;
Hamdan, Fadi F.;
Klitten, Laura L.;
Møller, Rikke S.;
Carmant, Lionel;
Schwartzentruber, Jeremy;
Patry, Lysanne;
Dobrzeniecka, Sylvia;
Rochefort, Daniel;
Neugnot‐Cerioli, Mathilde;
Lacaille, Jean‐Claude;
Niu, Zhiyv;
Eng, Christine M.;
Yang, Yaping;
Palardy, Sylvain;
Belhumeur, Céline;
Rouleau, Guy A.;
Tommerup, Niels;
Immken, LaDonna;
Beauchamp, Miriam H.

Publication type:

Article

Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations.

Published in:

Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01219

By:

Akçimen, Fulya;
Ross, Jay P.;
Bourassa, Cynthia V.;
Liao, Calwing;
Rochefort, Daniel;
Gama, Maria Thereza Drumond;
Dicaire, Marie-Josée;
Barsottini, Orlando G.;
Brais, Bernard;
Pedroso, José Luiz;
Dion, Patrick A.;
Rouleau, Guy A.

Publication type:

Article

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 5, p. 1363, doi. 10.1093/hmg/ddu545

By:

Kaneb, Hannah M.;
Folkmann, Andrew W.;
Belzil, Véronique V.;
Jao, Li-En;
Leblond, Claire S.;
Girard, Simon L.;
Daoud, Hussein;
Noreau, Anne;
Rochefort, Daniel;
Hince, Pascale;
Szuto, Anna;
Levert, Annie;
Vidal, Sabrina;
André-Guimont, Catherine;
Camu, William;
Bouchard, Jean-Pierre;
Dupré, Nicolas;
Rouleau, Guy A.;
Wente, Susan R.;
Dion, Patrick A.

Publication type:

Article

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 10, p. 2211, doi. 10.1093/hmg/dds036

By:

Stochmanski, Shawn J.;
Therrien, Martine;
Laganière, Janet;
Rochefort, Daniel;
Laurent, Sandra;
Karemera, Liliane;
Gaudet, Rebecca;
Vyboh, Kishanda;
Van Meyel, Don J.;
Di Cristo, Graziella;
Dion, Patrick A.;
Gaspar, Claudia;
Rouleau, Guy A.

Publication type:

Article

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 15, p. 3102, doi. 10.1093/hmg/ddq203

By:

Kabashi, Edor;
Lin, Li;
Tradewell, Miranda L.;
Dion, Patrick A.;
Bercier, Valérie;
Bourgouin, Patrick;
Rochefort, Daniel;
Hadj, Samar Bel;
Durham, Heather D.;
Velde, Christine Vande;
Rouleau, Guy A.;
Drapeau, Pierre

Publication type:

Article

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 4, p. 671, doi. 10.1093/hmg/ddp534

By:

Kabashi, Edor;
Lin, Li;
Tradewell, Miranda L.;
Dion, Patrick A.;
Bercier, Valérie;
Bourgouin, Patrick;
Rochefort, Daniel;
Bel Hadj, Samar;
Durham, Heather D.;
Velde, Christine Vande;
Rouleau, Guy A.;
Drapeau, Pierre

Publication type:

Article