Works by Bernard, Geneviève

Results: 66

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
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
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
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
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Published in:
Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231176673
By:
- Macintosh, Julia;
- Thiffault, Isabelle;
- Pastinen, Tomi;
- Sztriha, László;
- Bernard, Geneviève
Publication type:
Article
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438
By:
- Derksen, Alexa;
- Mirchi, Amytice;
- Tran, Luan T.;
- Cao-Lei, Lei;
- Oskoui, Maryam;
- Srour, Myriam;
- Poulin, Chantal;
- Bernard, Geneviève
Publication type:
Article
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
Published in:
Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438
By:
- Derksen, Alexa;
- Mirchi, Amytice;
- Tran, Luan T.;
- Cao-Lei, Lei;
- Oskoui, Maryam;
- Srour, Myriam;
- Poulin, Chantal;
- Bernard, Geneviève
Publication type:
Article
Classifying Hypomyelination: A Critical (White) Matter.
Published in:
2020
By:
- Perrier, Stefanie;
- Matovic, Sara;
- Bernard, Geneviève
Publication type:
Letter
Classifying Hypomyelination: A Critical (White) Matter.
Published in:
2020
By:
- Perrier, Stefanie;
- Matovic, Sara;
- Bernard, Geneviève
Publication type:
Letter
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
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
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
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
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
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
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02802-6
By:
- Potic, Ana;
- Perrier, Stefanie;
- Radovic, Tijana;
- Gavrilovic, Svetlana;
- Ostojic, Jelena;
- Tran, Luan T.;
- Thiffault, Isabelle;
- Pastinen, Tomi;
- Schiffmann, Raphael;
- Bernard, Geneviève
Publication type:
Article
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
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
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
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
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
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
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
Response to Correspondence on "Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study".
Published in:
Journal of Child Neurology, 2021, v. 36, n. 3, p. 245, doi. 10.1177/0883073820960984
By:
- Spahr, Aaron;
- Dermer, Emily;
- Bernard, Geneviève
Publication type:
Article
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Published in:
Journal of Child Neurology, 2019, v. 34, n. 2, p. 74, doi. 10.1177/0883073818811223
By:
- Accogli, Andrea;
- Guerrero, Kether;
- D'Agostino, Maria Daniela;
- Tran, Luan;
- Cieuta-Walti, Cécile;
- Thiffault, Isabelle;
- Chénier, Sébastien;
- Schwartzentruber, Jeremy;
- Majewski, Jacek;
- Bernard, Geneviève
Publication type:
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
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
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
Dystonia in RNA Polymerase III‐Related Leukodystrophy.
Published in:
Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715
By:
- Al Yazidi, Ghalia;
- Tran, Luan T.;
- Guerrero, Kether;
- Vanderver, Adeline;
- Schiffmann, Raphael;
- Wolf, Nicole I.;
- Chouinard, Sylvain;
- Bernard, Geneviève
Publication type:
Article
A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus.
Published in:
Canadian Journal of Neurological Sciences, 2012, v. 39, n. 2, p. 220, doi. 10.1017/S0317167100013263
By:
- Hand, Collette Kathleen;
- Bernard, Geneviève;
- Dubé, Marie-Pierre;
- Shevell, Michael Israel;
- Rouleau, Guy Armand
Publication type:
Article
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
Published in:
Molecular Brain, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13041-022-00974-z
By:
- Pinard, Maxime;
- Dastpeyman, Samaneh;
- Poitras, Christian;
- Bernard, Geneviève;
- Gauthier, Marie-Soleil;
- Coulombe, Benoit
Publication type:
Article
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report.
Published in:
Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1216487
By:
- Chapleau, Alexandra;
- Boucher, Renée-Myriam;
- Pastinen, Tomi;
- Thiffault, Isabelle;
- Gould, Peter V.;
- 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
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
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