Search Results - Geneviève Bernard

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  1. 1
    RNA Polymerases I and III in development and disease

    RNA Polymerases I and III in development and disease by Kristin E.N. Watt, Julia Macintosh, Geneviève Bernard, Paul A. Trainor

    Published 2022
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  2. 2
    RNA Polymerase III Subunit Mutations in Genetic Diseases

    RNA Polymerase III Subunit Mutations in Genetic Diseases by Elisabeth Lata, Karine Choquet, Francis Sagliocco, Bernard Brais, Geneviève Bernard, Martin Teichmann

    Published 2021
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  3. 3
    Exosomes Induce Fibroblast Differentiation into Cancer-Associated Fibroblasts through TGFβ Signaling

    Exosomes Induce Fibroblast Differentiation into Cancer-Associated Fibroblasts through TGFβ Signaling by Cassandra Ringuette Goulet, Geneviève Bernard, Sarah Tremblay, Stéphane Chabaud, Stéphane Bolduc, Frédéric Pouliot

    Published 2018
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  4. 4
    Cancer-associated fibroblasts induce epithelial–mesenchymal transition of bladder cancer cells through paracrine IL-6 signalling

    Cancer-associated fibroblasts induce epithelial–mesenchymal transition of bladder cancer cells through paracrine IL-6 signalling by Cassandra Ringuette Goulet, Audrey Champagne, Geneviève Bernard, Dominique Vandal, Stéphane Chabaud, Frédéric Pouliot, Stéphane Bolduc

    Published 2019
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  5. 5
    Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

    Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy by Martine Tétreault, Karine Choquet, Simona Orcesi, Davide Tonduti, Umberto Balottin, Martin Teichmann, Sébastien Fribourg, Raphael Schiffmann, Bernard Brais, Adeline Vanderver, Geneviève Bernard

    Published 2011
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  6. 6
    Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200

    Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200 by Karine Choquet, Diane Forget, Elisabeth Meloche, Marie‐Josée Dicaire, Geneviève Bernard, Adeline Vanderver, Raphael Schiffmann, Marc R. Fabian, Martin Teichmann, Benoit Coulombe, Bernard Brais, Claudia L. Kleinman

    Published 2019
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  7. 7
    Hypomyelinating leukodystrophies: Translational research progress and prospects

    Hypomyelinating leukodystrophies: Translational research progress and prospects by Petra J. W. Pouwels, Adeline Vanderver, Geneviève Bernard, Nicole I. Wolf, Steffi F. Dreha‐Kulczewksi, Sean Deoni, Enrico Bertini, Alfried Kohlschütter, William D. Richardson, Charles ffrench‐Constant, Wolfgang Köhler, David H. Rowitch, A. James Barkovich

    Published 2014
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  8. 8
    POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System

    POLR3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System by Adam Le, Kelly-Ann Thibault, Pouneh Amir-Yazdani, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah L. Renaud, Dolores Gonzales Moron, Marcelo Kauffman, Danilo de Assis Pereira, Adeline Vanderver, Maxime Morsa, Geneviève Bernard

    Published 2025
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  9. 9
    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

    A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies by Sumit Parikh, Geneviève Bernard, Richard J. Leventer, Marjo S. van der Knaap, Johan Van Hove, Amy Pizzino, Nathan H. McNeill, Guy Helman, Cas Simons, Johanna Schmidt, William B. Rizzo, Marc C. Patterson, Ryan J. Taft, Adeline Vanderver

    Published 2014
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  10. 10
    Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

    Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy by Geneviève Bernard, Éliane Chouery, Maria Lisa Putorti, Martine Tétreault, Asako Takanohashi, Giovanni A. Carosso, I Clément, Odile Boespflug‐Tanguy, Diana Rodriguez, Valérie Delague, Joelle Abou Ghoch, Nadine Jalkh, Imen Dorboz, Sébastien Fribourg, Martin Teichmann, André Mégarbané, Raphael Schiffmann, Adeline Vanderver, Bernard Brais

    Published 2011
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  11. 11
    Diversity of ARSACS Mutations in French-Canadians

    Diversity of ARSACS Mutations in French-Canadians by Isabelle Thiffault, Marie‐Josée Dicaire, Martine Tétreault, Kaichi Huang, Julie Demers-Lamarche, Geneviève Bernard, Antoine Duquette, Roxanne Larivière, Kalle Gehring, Alexandre Montpetit, Peter S. McPherson, Andréa Richter, Laura Montermini, Julien Mercier, Grant A. Mitchell, Nicolas Dupré, Claude Prévost, J.P. Bouchard, Jean Mathieu, Bernard Brais

    Published 2013
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  12. 12
    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination

    <i>TUBB4A</i> de novo mutations cause isolated hypomyelination by Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna C. Saitta, Jennifer L. Murphy, Quasar Saleem Padiath, Yi Xie, Hákon Hákonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

    Published 2014
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  13. 13
    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans by Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie‐Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean‐Pierre Bouchard, Marie‐France Rioux, Charles Marques Lourenço, Zhihong Li, Claire Haueter, Eric A. Shoubridge, Brett H. Graham, Bernard Brais, Hugo J. Bellen

    Published 2012
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  14. 14
    Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

    Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy by Marisa I. Mendes, Mariana Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desirée E.C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aída Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I. Wolf, Geneviève Bernard

    Published 2018
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  15. 15
    Diffuse hypomyelination is not obligate for POLR3-related disorders

    Diffuse hypomyelination is not obligate for POLR3-related disorders by Roberta La Piana, Ferdy Kurniawan Cayami, Luan T. Tran, Kether Guerrero, Rosalina van Spaendonk, Katrin Õunap, Sander Pajusalu, Tobias B. Haack, Evangeline Wassmer, Dagmar Timmann, Hanna Mierzewska, Bwee Tien Poll‐The, Chirag Patel, Helen Cox, Tahir Atık, Hüseyin Önay, Ferda Özkınay, Adeline Vanderver, Marjo S. van der Knaap, Nicole I. Wolf, Geneviève Bernard

    Published 2016
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  16. 16
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor by Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau

    Published 2012
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  17. 17
    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations

    Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations by Nicole I. Wolf, Adeline Vanderver, Rosalina M.L. van Spaendonk, Raphael Schiffmann, Bernard Brais, Marianna Bugiani, Erik A. Sistermans, Coriene E. Catsman‐Berrevoets, Johan M. Kros, Pedro Soares Pinto, Daniela Pohl, Sandya Tirupathi, Petter Strømme, Ton de Grauw, Sébastien Fribourg, Michelle Demos, Amy Pizzino, Sakkubai Naidu, Kether Guerrero, Marjo S. van der Knaap, Geneviève Bernard

    Published 2014
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  18. 18
    Disease specific therapies in leukodystrophies and leukoencephalopathies

    Disease specific therapies in leukodystrophies and leukoencephalopathies by Guy Helman, Keith Van Haren, Joshua L. Bonkowsky, Geneviève Bernard, Amy Pizzino, Nancy Braverman, Dean Suhr, Marc C. Patterson, S. Ali Fatemi, Jeff Leonard, Marjo S. van der Knaap, Stephen A. Back, Stephen A. Damiani, Steven A. Goldman, Asako Takanohashi, Magdalena A. Petryniak, David H. Rowitch, Albee Messing, Lawrence Wrabetz, Raphael Schiffmann, Florian Eichler, Maria L. Escolar, Adeline Vanderver

    Published 2015
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  19. 19
    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene

    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene by Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Geneviève Bernard, Isabella R. Straub, Martine Tétreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S. Rosenblatt, Eric A. Shoubridge, Aziz Mhanni, Tara Myers, Virginia K. Proud, S. Schrier Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole P. Safina, Carol Saunders, Kym M. Boycott, Isabelle Thiffault

    Published 2017
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  20. 20
    Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

    Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III by Isabelle Thiffault, Nicole I. Wolf, Diane Forget, Kether Guerrero, Luan T. Tran, Karine Choquet, Mathieu Lavallée‐Adam, Christian Poitras, Bernard Brais, Grace Yoon, László Sztriha, Richard Webster, Dagmar Timmann, Bart P.C. van de Warrenburg, Jürgen Seeger, Alíz Zimmermann, Adrienn Máté, Cyril Goizet, Eva Fung, Marjo S. van der Knaap, Sébastien Fribourg, Adeline Vanderver, Cas Simons, Ryan J. Taft, John R. Yates, Benoit Coulombe, Geneviève Bernard

    Published 2015
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