Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Thiffault, Isabelle, Wolf, Nicole I, Forget, Diane, Guerrero, Kether, Tran, Luan T, Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I, Timmann, Dagmar, van de Warrenburg, Bart P, Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S, Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J, Yates, 3rd, John R, Coulombe, Benoit, Bernard, Geneviève
Published in Nature communications (07.07.2015)
Published in Nature communications (07.07.2015)
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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
Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T, Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Published in Orphanet journal of rare diseases (13.07.2023)
Published in Orphanet journal of rare diseases (13.07.2023)
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The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study
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
Published in Journal of child neurology (01.04.2023)
Published in Journal of child neurology (01.04.2023)
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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Friedman, Jennifer, Smith, Desiree E, Issa, Mahmoud Y, Stanley, Valentina, Wang, Rengang, Mendes, Marisa I, Wright, Meredith S, Wigby, Kristen, Hildreth, Amber, Crawford, John R, Koehler, Alanna E, Chowdhury, Shimul, Nahas, Shareef, Zhai, Liting, Xu, Zhiwen, Lo, Wing-Sze, James, Kiely N, Musaev, Damir, Accogli, Andrea, Guerrero, Kether, Tran, Luan T, Omar, Tarek E I, Ben-Omran, Tawfeg, Dimmock, David, Kingsmore, Stephen F, Salomons, Gajja S, Zaki, Maha S, Bernard, Geneviève, Gleeson, Joseph G
Published in Nature communications (12.02.2019)
Published in Nature communications (12.02.2019)
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The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness
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
Published in Orphanet journal of rare diseases (23.07.2021)
Published in Orphanet journal of rare diseases (23.07.2021)
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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing
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
Published in Frontiers in neurology (03.04.2023)
Published in Frontiers in neurology (03.04.2023)
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Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
Derksen, Alexa, Shih, Hung-Yu, Forget, Diane, Darbelli, Lama, Tran, Luan T., Poitras, Christian, Guerrero, Kether, Tharun, Sundaresan, Alkuraya, Fowzan S., Kurdi, Wesam I., Nguyen, Cam-Tu Emilie, Laberge, Anne-Marie, Si, Yue, Gauthier, Marie-Soleil, Bonkowsky, Joshua L., Coulombe, Benoit, Bernard, Geneviève
Published in HGG advances (08.07.2021)
Published in HGG advances (08.07.2021)
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Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease
Chapleau, Alexandra, Mirchi, Amytice, Tran, Luan T., Poulin, Chantal, Bernard, Geneviève
Published in Pediatric neurology (01.11.2023)
Published in Pediatric neurology (01.11.2023)
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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy
Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I., Bernard, Geneviève
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy
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
Published in Human mutation (01.01.2024)
Published in Human mutation (01.01.2024)
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Diffuse hypomyelination is not obligate for POLR3-related disorders
La Piana, Roberta, Cayami, Ferdy K, Tran, Luan T, Guerrero, Kether, van Spaendonk, Rosalina, Õunap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-Thé, Bwee T, Patel, Chirag, Cox, Helen, Atik, Tahir, Onay, Huseyin, Ozkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S, Wolf, Nicole I, Bernard, Geneviève
Published in Neurology (26.04.2016)
Published in Neurology (26.04.2016)
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Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C
Mirchi, Amytice, Guay, Simon-Pierre, Tran, Luan T, Wolf, Nicole I, Vanderver, Adeline, Brais, Bernard, Sylvain, Michel, Pohl, Daniela, Rossignol, Elsa, Saito, Michael, Moutton, Sebastien, González-Gutiérrez-Solana, Luis, Thiffault, Isabelle, Kruer, Michael C, Moron, Dolores Gonzales, Kauffman, Marcelo, Goizet, Cyril, Sztriha, László, Glamuzina, Emma, Melançon, Serge B, Naidu, Sakkubai, Retrouvey, Jean-Marc, Lacombe, Suzanne, Bernardino-Cuesta, Beatriz, De Bie, Isabelle, Bernard, Geneviève
Published in Journal of medical genetics (01.10.2023)
Published in Journal of medical genetics (01.10.2023)
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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders
Mirchi, Amytice, Derksen, Alexa, Tran, Luan T., De Bie, Isabelle, Nadeau, Amélie, Lovett, Audrey, Raams, Anja, Vermeulen, Wim, Theil, Arjan F., Bernard, Geneviève
Published in Neurogenetics (01.10.2022)
Published in Neurogenetics (01.10.2022)
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Journal Article
Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Published in Frontiers in neurology (13.10.2023)
Published in Frontiers in neurology (13.10.2023)
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Journal Article
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic
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
Published in Journal of child neurology (01.03.2022)
Published in Journal of child neurology (01.03.2022)
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Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy
Mirchi, Amytice, Pelletier, Félixe, Tran, Luan T., Keller, Stephanie, Braverman, Nancy, Tonduti, Davide, Vanderver, Adeline, Pizzino, Amy, Dilenge, Marie-Emmanuelle, Poulin, Chantal, Shevell, Michael, Majnemer, Annette, Sébire, Guillaume, Srour, Myriam, Osterman, Bradley, Boucher, Renée-Myriam, Vanasse, Michel, Rossignol, Elsa, Mitchell, John, Venkateswaran, Sunita, Pohl, Daniela, Kauffman, Marcelo, Schiffmann, Raphael, Goizet, Cyril, Moutton, Sebastien, Roncarolo, Federico, Bernard, Geneviève
Published in Pediatric neurology (01.07.2018)
Published in Pediatric neurology (01.07.2018)
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A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report
Derksen, Alexa, Mirchi, Amytice, Tran, Luan T., Cao-Lei, Lei, Oskoui, Maryam, Srour, Myriam, Poulin, Chantal, Bernard, Geneviève
Published in Child neurology open (01.01.2021)
Published in Child neurology open (01.01.2021)
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Journal Article
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Gauquelin, Laurence, Cayami, Ferdy K, Sztriha, László, Yoon, Grace, Tran, Luan T, Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M L, Fung, Eva L, D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M, Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C, Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S, Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I, Bernard, Geneviève
Published in Neurology. Genetics (01.12.2019)
Published in Neurology. Genetics (01.12.2019)
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