Works matching AU Bernard, Geneviève

Results: 67

The use of a SOX10 reporter toward ameliorating oligodendrocyte lineage differentiation from human induced pluripotent stem cells.

Published in:

Glia (0894-1491), 2024, v. 72, n. 6, p. 1165, doi. 10.1002/glia.24524

By:

Piscopo, Valerio E. C.;
Chapleau, Alexandra;
Blaszczyk, Gabriela J.;
Sirois, Julien;
You, Zhipeng;
Soubannier, Vincent;
Chen, Carol X.‐Q.;
Bernard, Geneviève;
Antel, Jack P.;
Durcan, Thomas M.

Publication type:

Article

Cover Image, Volume 72, Issue 6.

Published in:

Glia (0894-1491), 2024, v. 72, n. 6, p. C1, doi. 10.1002/glia.24403

By:

Piscopo, Valerio E. C.;
Chapleau, Alexandra;
Blaszczyk, Gabriela J.;
Sirois, Julien;
You, Zhipeng;
Soubannier, Vincent;
Chen, Carol X.‐Q.;
Bernard, Geneviève;
Antel, Jack P.;
Durcan, Thomas M.

Publication type:

Article

A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Published in:

Neurogenetics, 2022, v. 23, n. 4, p. 271, doi. 10.1007/s10048-022-00697-2

By:

Mirchi, Amytice;
Derksen, Alexa;
Tran, Luan T.;
De Bie, Isabelle;
Nadeau, Amélie;
Lovett, Audrey;
Raams, Anja;
Vermeulen, Wim;
Theil, Arjan F.;
Bernard, Geneviève

Publication type:

Article

Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 151, doi. 10.1007/s10048-022-00683-8

By:

Macintosh, Julia;
Derksen, Alexa;
Poulin, Chantal;
Braverman, Nancy;
Vanderver, Adeline;
Thiffault, Isabelle;
Albrecht, Steffen;
Bernard, Geneviève

Publication type:

Article

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Published in:

Neurogenetics, 2022, v. 23, n. 2, p. 115, doi. 10.1007/s10048-022-00684-7

By:

Cheung, Anthony;
Argyriou, Catherine;
Yergeau, Christine;
D'Souza, Yasmin;
Riou, Émilie;
Lévesque, Sébastien;
Raymond, Gerald;
Daba, Mebratu;
Rtskhiladze, Irakli;
Tkemaladze, Tinatin;
Adang, Laura;
La Piana, Roberta;
Bernard, Geneviève;
Braverman, Nancy

Publication type:

Article

POLR3A variants with striatal involvement and extrapyramidal movement disorder.

Published in:

Neurogenetics, 2020, v. 21, n. 2, p. 121, doi. 10.1007/s10048-019-00602-4

By:

Harting, Inga;
Al-Saady, Murtadha;
Krägeloh-Mann, Ingeborg;
Bley, Annette;
Hempel, Maja;
Bierhals, Tatjana;
Karch, Stephanie;
Moog, Ute;
Bernard, Geneviève;
Huntsman, Richard;
van Spaendonk, Rosalina M. L.;
Vreeburg, Maaike;
Rodríguez-Palmero, Agustí;
Pujol, Aurora;
van der Knaap, Marjo S.;
Pouwels, Petra J. W.;
Wolf, Nicole I.

Publication type:

Article

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

Published in:

Neurogenetics, 2015, v. 16, n. 4, p. 315, doi. 10.1007/s10048-015-0455-z

By:

Noreau, Anne;
Piana, Roberta;
Marcoux, Camille;
Dion, Patrick;
Brais, Bernard;
Bernard, Geneviève;
Rouleau, Guy

Publication type:

Article

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Published in:

Neurogenetics, 2014, v. 15, n. 3, p. 161, doi. 10.1007/s10048-014-0412-2

By:

Kashani, Alireza;
Thiffault, Isabelle;
Dilenge, Marie-Emmanuelle;
Saint-Martin, Christine;
Guerrero, Kether;
Tran, Luan;
Shoubridge, Eric;
Knaap, Marjo;
Braverman, Nancy;
Bernard, Geneviève

Publication type:

Article

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Published in:

Neurogenetics, 2010, v. 11, n. 4, p. 457, doi. 10.1007/s10048-010-0251-8

By:

Bernard, Geneviève;
Thiffault, Isabelle;
Tetreault, Martine;
Putorti, Maria;
Bouchard, Isabelle;
Sylvain, Michel;
Melançon, Serge;
Laframboise, Rachel;
Langevin, Pierre;
Bouchard, Jean-Pierre;
Vanasse, Michel;
Vanderver, Adeline;
Sébire, Guillaume;
Brais, Bernard

Publication type:

Article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203

By:

Kevelam, Sietske H.;
Taube, Jennifer R.;
Spaendonk, Rosalina M. L.;
Bertini, Enrico;
Sperle, Karen;
Tarnopolsky, Mark;
Tonduti, Davide;
Valente, Enza Maria;
Travaglini, Lorena;
Sistermans, Erik A.;
Bernard, Geneviève;
Catsman ‐ Berrevoets, Coriene E.;
Karnebeek, Clara D. M.;
Østergaard, John R.;
Friederich, Richard L.;
Fawzi Elsaid, Mahmoud;
Schieving, Jolanda H.;
Tarailo ‐ Graovac, Maja;
Orcesi, Simona;
Steenweg, Marjan E.

Publication type:

Article

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 3, p. 262, doi. 10.3390/metabo12030262

By:

Ghaleb, Youmna;
Elbitar, Sandy;
Philippi, Anne;
El Khoury, Petra;
Azar, Yara;
Andrianirina, Miangaly;
Loste, Alexia;
Abou-Khalil, Yara;
Nicolas, Gaël;
Le Borgne, Marie;
Moulin, Philippe;
Di-Filippo, Mathilde;
Charrière, Sybil;
Farnier, Michel;
Yelnick, Cécile;
Carreau, Valérie;
Ferrières, Jean;
Lecerf, Jean-Michel;
Derksen, Alexa;
Bernard, Geneviève

Publication type:

Article

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report.

Published in:

Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1254140

By:

Macintosh, Julia;
Perrier, Stefanie;
Pinard, Maxime;
Tran, Luan T.;
Guerrero, Kether;
Prasad, Chitra;
Prasad, Asuri N.;
Pastinen, Tomi;
Thiffault, Isabelle;
Coulombe, Benoit;
Bernard, Geneviève

Publication type:

Article

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Published in:

Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1148377

By:

Perrier, Stefanie;
Guerrero, Kether;
Tran, Luan T.;
Michell-Robinson, Mackenzie A.;
Legault, Geneviève;
Brais, Bernard;
Sylvain, Michel;
Dorman, James;
Demos, Michelle;
Köhler, Wolfgang;
Pastinen, Tomi;
Thiffault, Isabelle;
Bernard, Geneviève

Publication type:

Article

Lysophosphatidic acid enhances collagen deposition and matrix thickening in engineered tissue.

Published in:

Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 11, p. E65, doi. 10.1002/term.1711

By:

Chabaud, Stéphane;
Marcoux, Thomas‐Louis;
Deschênes‐Rompré, Marie‐Pier;
Rousseau, Alexandre;
Morissette, Amélie;
Bouhout, Sara;
Bernard, Geneviève;
Bolduc, Stéphane

Publication type:

Article

Adipose-derived stromal cells for the reconstruction of a human vesical equivalent.

Published in:

Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 11, p. E135, doi. 10.1002/term.1717

By:

Rousseau, Alexandre;
Fradette, Julie;
Bernard, Geneviève;
Gauvin, Robert;
Laterreur, Véronique;
Bolduc, Stéphane

Publication type:

Article

Characterization of a psoriatic skin model produced with involved or uninvolved cells.

Published in:

Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 7, p. 789, doi. 10.1002/term.1666

By:

Jean, Jessica;
Leroy, Marie;
Duque‐Fernandez, Alexandra;
Bernard, Geneviève;
Soucy, Jacques;
Pouliot, Roxane

Publication type:

Article

Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.

Published in:

Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y

By:

Choquet, Karine;
Sharon Yang;
Moir, Robyn D.;
Forget, Diane;
Larivière, Roxanne;
Bouchard, Annie;
Poitras, Christian;
Sgarioto, Nicolas;
Dicaire, Marie-Josée;
Noohi, Forough;
Kennedy, Timothy E.;
Rochford, Joseph;
Bernard, Geneviève;
Teichmann, Martin;
Coulombe, Benoit;
Willis, Ian M.;
Kleinman, Claudia L.;
Brais, Bernard

Publication type:

Article

Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.

Published in:

BMC Neurology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12883-023-03354-9

By:

Schoenmakers, Daphne H.;
Leferink, Prisca S.;
Vanderver, Adeline;
Bonkowsky, Joshua L.;
Krägeloh-Mann, Ingeborg;
Bernard, Geneviève;
Bertini, Enrico;
Fatemi, Ali;
Fogel, Brent L.;
Wolf, Nicole I.;
Skwirut, Donna;
Buck, Allyson;
Holberg, Brett;
Saunier-Vivar, Elise F.;
Rauner, Robert;
Dekker, Hanka;
van Bokhoven, Pieter;
Stellingwerff, Menno D.;
Berkhof, Johannes;
van der Knaap, Marjo S.

Publication type:

Article

A treatable new cause of chorea: Beta-ketothiolase deficiency.

Published in:

Movement Disorders, 2013, v. 28, n. 8, p. 1054, doi. 10.1002/mds.25538

By:

Buhaş, Daniela;
Bernard, Geneviève;
Fukao, Toshiyuki;
Décarie, Jean‐Claude;
Chouinard, Sylvain;
Mitchell, Grant A.

Publication type:

Article

Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature.

Published in:

Movement Disorders, 2012, v. 27, n. 14, p. 1831, doi. 10.1002/mds.25270

By:

Osterman, Bradley;
Sylvain, Michel;
Chouinard, Sylvain;
Bernard, Geneviève

Publication type:

Article

Chylomicron retention disease: Dystonia as a new clinical feature.

Published in:

Movement Disorders, 2010, v. 25, n. 11, p. 1755, doi. 10.1002/mds.23165

By:

Bernard, Geneviève;
Panisset, Michel;
Sadikot, Abbas F.;
Chouinard, Sylvain

Publication type:

Article

Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy.

Published in:

Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8807171

By:

Perrier, Stefanie;
Macintosh, Julia;
Misiaszek, Agata D.;
Lambert, Gabrielle;
Guerrero, Kether;
Tran, Luan T.;
Müller, Christoph W.;
Pastinen, Tomi;
Maegawa, Gustavo H. B.;
Thiffault, Isabelle;
Bernard, Geneviève;
Oetting, William

Publication type:

Article

LINGO1 Variants in the French-Canadian Population.

Published in:

PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016254

By:

Bourassa, Cynthia V.;
Rivière, Jean-Baptiste;
Dion, Patrick A.;
Bernard, Geneviève;
Diab, Sabrina;
Panisset, Michel;
Chouinard, Sylvain;
Dupré, Nicolas;
Fournier, Hélène;
Raelson, John;
Belouchi, Majid;
Rouleau, Guy A.

Publication type:

Article

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Published in:

American Journal of Neuroradiology, 2024, v. 45, n. 6, p. 769, doi. 10.3174/ajnr.A8220

By:

Armangue, Thaís;
Whitehead, Matthew T.;
Tonduti, Davide;
Farina, Laura;
Tavasoli, Ali Reza;
Vossough, Arastoo;
Bennett, Mariko L.;
Vaia, Ylenia;
Bernard, Geneviève;
Salsano, Ettore;
Mercimek-Andrews, Saadet;
Waldman, Amy;
Vanderver, Adeline

Publication type:

Article

Demonstration of the direct impact of ketamine on urothelium using a tissue engineered bladder model.

Published in:

Canadian Urological Association Journal, 2015, v. 9, n. 9/10, p. E613, doi. 10.5489/cuaj.2899

By:

Bureau, Michel;
Pelletier, Jérôme;
Rousseau, Alexandre;
Bernard, Geneviève;
Chabaud, Stéphane;
Bolduc, Stéphane

Publication type:

Article

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 708, doi. 10.1002/ajmg.a.62553

By:

Perrier, Stefanie;
Gauquelin, Laurence;
Wambach, Jennifer A.;
Bernard, Geneviève

Publication type:

Article

The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness.

Published in:

2021

By:

Spahr, Aaron;
Rosli, Zaliqa;
Legault, Mélanie;
Tran, Luan T.;
Fournier, Simon;
Toutounchi, Helia;
Darbelli, Lama;
Madjar, Cécile;
Lucia, Cassandra;
St-Jean, Marie-Lou;
Das, Samir;
Evans, Alan C.;
Bernard, Geneviève

Publication type:

journal article

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249

By:

Michell-Robinson, Mackenzie A;
Watt, Kristin E N;
Grouza, Vladimir;
Macintosh, Julia;
Pinard, Maxime;
Tuznik, Marius;
Chen, Xiaoru;
Darbelli, Lama;
Wu, Chia-Lun;
Perrier, Stefanie;
Chitsaz, Daryan;
Uccelli, Nonthué A;
Liu, Hanwen;
Cox, Timothy C;
Müller, Christoph W;
Kennedy, Timothy E;
Coulombe, Benoit;
Rudko, David A;
Trainor, Paul A;
Bernard, Geneviève

Publication type:

Article

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

Published in:

2022

By:

Bainbridge, Matthew N;
Mazumder, Aloran;
Ogasawara, Daisuke;
Jamra, Rami Abou;
Bernard, Geneviève;
Bertini, Enrico;
Burglen, Lydie;
Cope, Heidi;
Crawford, Ali;
Derksen, Alexa;
Dure, Leon;
Gantz, Emily;
Koch-Hogrebe, Margarete;
Hurst, Anna C E;
Mahida, Sonal;
Marshall, Paige;
Micalizzi, Alessia;
Novelli, Antonio;
Peng, Hongfan;
Medicine, Rady Children's Institute for Genomic

Publication type:

journal article

POLR3A variants in hereditary spastic paraplegia and ataxia.

Published in:

2018

By:

Gauquelin, Laurence;
Tétreault, Martine;
Thiffault, Isabelle;
Farrow, Emily;
Miller, Neil;
Yoo, Byunggil;
Bareke, Eric;
Yoon, Grace;
Suchowersky, Oksana;
Dupré, Nicolas;
Tarnopolsky, Mark;
Brais, Bernard;
Wolf, Nicole I.;
Majewski, Jacek;
Rouleau, Guy A.;
Gan-Or, Ziv;
Bernard, Geneviève

Publication type:

Letter

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Published in:

2020

By:

Vanderver, Adeline;
Bernard, Geneviève;
Helman, Guy;
Sherbini, Omar;
Boeck, Ryan;
Cohn, Jeffrey;
Collins, Abigail;
Demarest, Scott;
Dobbins, Katherine;
Emrick, Lisa;
Fraser, Jamie L.;
Masser‐Frye, Diane;
Hayward, Jean;
Karmarkar, Swati;
Keller, Stephanie;
Mirrop, Samuel;
Mitchell, Wendy;
Pathak, Sheel;
Sherr, Elliott;
Haren, Keith

Publication type:

journal article

Whole exome sequencing in patients with white matter abnormalities.

Published in:

2016

By:

Vanderver, Adeline;
Simons, Cas;
Helman, Guy;
Crawford, Joanna;
Wolf, Nicole I.;
Bernard, Geneviève;
Pizzino, Amy;
Schmidt, Johanna L.;
Takanohashi, Asako;
Miller, David;
Khouzam, Amirah;
Rajan, Vani;
Ramos, Erica;
Chowdhury, Shimul;
Hambuch, Tina;
Ru, Kelin;
Baillie, Gregory J.;
Grimmond, Sean M.;
Caldovic, Ljubica;
Devaney, Joseph

Publication type:

journal article

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.

Published in:

2015

By:

Potic, Ana;
Popovic, Vera;
Ostojic, Jelena;
Pekic, Sandra;
Kozic, Dusko;
Guerrero, Kether;
Schiffmann, Raphael;
Bernard, Geneviève

Publication type:

Case Study

Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.

Published in:

2015

By:

Potic, Ana;
Popovic, Vera;
Ostojic, Jelena;
Pekic, Sandra;
Kozic, Dusko;
Guerrero, Kether;
Schiffmann, Raphael;
Bernard, Geneviève

Publication type:

journal article

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.

Published in:

Case Reports in Endocrinology, 2015, v. 2015, p. 1, doi. 10.1155/2015/314594

By:

Billington, Emma;
Bernard, Geneviève;
Gibson, William;
Corenblum, Bernard

Publication type:

Article

Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.

Published in:

Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1167047

By:

Macintosh, Julia;
Michell-Robinson, Mackenzie;
Xiaoru Chen;
Bernard, Geneviève

Publication type:

Article

Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel Á.;
Tran, Luan T.;
Benko, William;
van der Knaap, Marjo S.;
van Spaendonk, Rosalina M. L.;
Wolf, Nicole I.;
Bernard, Geneviève

Publication type:

Article

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Published in:

2015

By:

Gutierrez, Mariana;
Thiffault, Isabelle;
Guerrero, Kether;
Martos-Moreno, Gabriel A;
Tran, Luan T;
Benko, William;
van der Knaap, Marjo S;
van Spaendonk, Rosalina M L;
Wolf, Nicole I;
Bernard, Geneviève;
Martos-Moreno, Gabriel Á

Publication type:

journal article

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

Published in:

PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288

By:

Bayat, Vafa;
Thiffault, Isabelle;
Jaiswal, Manish;
Tétreault, Martine;
Donti, Taraka;
Sasarman, Florin;
Bernard, Geneviève;
Demers-Lamarche, Julie;
Dicaire, Marie-Josée;
Mathieu, Jean;
Vanasse, Michel;
Bouchard, Jean-Pierre;
Rioux, Marie-France;
Lourenco, Charles M.;
Zhihong Li;
Haueter, Claire;
Shoubridge, Eric A.;
Graham, Brett H.;
Brais, Bernard;
Bellen, Hugo J.

Publication type:

Article

Single cell RNAseq to identify subpopulations of glial progenitors in iPSC-derived oligodendroglial lineage cultures.

Published in:

NPJ Systems Biology & Applications, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41540-025-00515-z

By:

Blaszczyk, Gabriela J.;
Piscopo, Valerio E. C.;
Goldsmith, Taylor M.;
Chapleau, Alexandra;
Sirois, Julien;
Bernard, Geneviève;
Antel, Jack P.;
Durcan, Thomas M.

Publication type:

Article

HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000

By:

Waters, Paula J.;
Lace, Baiba;
Buhas, Daniela;
Gravel, Serge;
Cyr, Denis;
Boucher, Renée‐Myriam;
Bernard, Geneviève;
Lévesque, Sébastien;
Maranda, Bruno

Publication type:

Article

Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.

Published in:

Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 857, doi. 10.3390/biom14070857

By:

Coulombe, Benoit;
Chapleau, Alexandra;
Macintosh, Julia;
Durcan, Thomas M.;
Poitras, Christian;
Moursli, Yena A.;
Faubert, Denis;
Pinard, Maxime;
Bernard, Geneviève

Publication type:

Article

Cancer-Associated Fibroblasts in a 3D Engineered Tissue Model Induce Tumor-like Matrix Stiffening and EMT Transition.

Published in:

Cancers, 2022, v. 14, n. 15, p. 3810, doi. 10.3390/cancers14153810

By:

Millet, Martial;
Bollmann, Enola;
Ringuette Goulet, Cassandra;
Bernard, Geneviève;
Chabaud, Stéphane;
Huot, Marc-Étienne;
Pouliot, Frédéric;
Bolduc, Stéphane;
Bordeleau, François

Publication type:

Article

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

Published in:

Frontiers in Cellular Neuroscience, 2021, p. N.PAG, doi. 10.3389/fncel.2020.631802

By:

Perrier, Stefanie;
Michell-Robinson, Mackenzie A.;
Bernard, Geneviève

Publication type:

Article

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

Published in:

2019

By:

Goulet, Cassandra Ringuette;
Champagne, Audrey;
Bernard, Geneviève;
Vandal, Dominique;
Chabaud, Stéphane;
Pouliot, Frédéric;
Bolduc, Stéphane

Publication type:

journal article

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study.

Published in:

Journal of Child Neurology, 2025, v. 40, n. 1, p. 26, doi. 10.1177/08830738241283171

By:

Lentini, Laura;
Toutounchi, Helia;
Chapleau, Alexandra;
Le, Adam;
Fournier, Simon;
Emari, Fatemeh;
Flamini, Robert;
Rossi, Andrea;
Gentile, Angela;
Bertini, Enrico;
Nicita, Francesco;
Pohl, Daniela;
Venkateswaran, Sunita;
Keller, Stephanie;
Rossignol, Elsa;
Renaud, Deborah;
Assis Pereira, Danilo De;
Chen, Xiaoru;
Vanderver, Adeline;
Bernard, Geneviève

Publication type:

Article

Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 8/9, p. 498, doi. 10.1177/08830738231188159

By:

Gavazzi, Francesco;
Patel, Virali;
Charsar, Brittany;
Glanzman, Allan;
Erler, Jacqueline;
Sevagamoorthy, Anjana;
McKenzie, Emma;
Kornafel, Tracy;
Ballance, Elizabeth;
Pierce, Samuel R.;
Teng, Michelle;
Formanowski, Brielle;
Woidill, Sarah;
Shults, Justine;
Wassmer, Evangeline;
Tonduti, Davide;
Magrinelli, Francesca;
Bernard, Geneviève;
Van Der Knaap, Marjo;
Wolf, Nicole

Publication type:

Article

The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.

Published in:

Journal of Child Neurology, 2023, v. 38, n. 5, p. 329, doi. 10.1177/08830738231176672

By:

Yazdani, Pouneh Amir;
St-Jean, Marie-Lou;
Matovic, Sara;
Spahr, Aaron;
Tran, Luan T.;
Boucher, Renée-Myriam;
Poulin, Chantal;
Osterman, Bradley;
Srour, Myriam;
Rosenblatt, Bernard;
Chénier, Sébastien;
Soucy, Jean-Francois;
Laberge, Anne-Marie;
D'Agostino, Maria Daniela;
Nguyen, Cam-Tu Emilie;
Morsa, Maxime;
Bernard, Geneviève

Publication type:

Article

Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.

Published in:

Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317

By:

Amir Yazdani, Pouneh;
St-Jean, Marie-Lou;
Matovic, Sara;
Spahr, Aaron;
Tran, Luan T.;
Boucher, Renée-Myriam;
Poulin, Chantal;
Osterman, Bradley;
Srour, Myriam;
Rosenblatt, Bernard;
Chenier, Sébastien;
Soucy, Jean-Francois;
Laberge, Anne-Marie;
Braverman, Nancy;
D'Agostino, Maria Daniela;
Nguyen, Cam-Tu Emilie;
Morsa, Maxime;
Bernard, Geneviève

Publication type:

Article