Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III von 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 III, John R., Coulombe, Benoit, Bernard, Geneviève

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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 von Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T, Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève

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

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Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy von 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.

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

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

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Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease von Chapleau, Alexandra, Mirchi, Amytice, Tran, Luan T., Poulin, Chantal, Bernard, Geneviève

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Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease von 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

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The Movement Disorder of Brain-Lung-Thyroid Syndrome Can be Responsive to Methylphenidate von Gauquelin, Laurence, Tran, Luan T, Chouinard, Sylvain, Bernard, Geneviève

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Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults von Michell-Robinson, Mackenzie A., Perrier, Stefanie, Lucia, Cassandra, Tran, Luan T., Thiffault, Isabelle, Köhler, Wolfgang, Bernard, Geneviève

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Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy von 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

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Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy von 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

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Diffuse hypomyelination is not obligate for POLR3-related disorders von 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, Ozknay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S, Wolf, Nicole I, Bernard, Geneviève

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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders von Mirchi, Amytice, Derksen, Alexa, Tran, Luan T., De Bie, Isabelle, Nadeau, Amélie, Lovett, Audrey, Raams, Anja, Vermeulen, Wim, Theil, Arjan F., Bernard, Geneviève

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

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Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report von Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève

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The voltage‐gated calcium channel blocker lomerizine is neuroprotective in motor neurons expressing mutant SOD1, but not TDP‐43 von Tran, Luan T., Gentil, Benoit J., Sullivan, Kathleen E., Durham, Heather D.

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Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy von 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

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Expanding the phenotypic and molecular spectrum of RNA polymerase III–related leukodystrophy von Perrier, Stefanie, Gauquelin, Laurence, Fallet-Bianco, Catherine, Dishop, Megan K., Michell-Robinson, Mackenzie A., Tran, Luan T., Guerrero, Kether, Darbelli, Lama, Srour, Myriam, Petrecca, Kevin, Renaud, Deborah L., Saito, Michael, Cohen, Seth, Leiz, Steffen, Alhaddad, Bader, Haack, Tobias B., Tejera-Martin, Ingrid, Monton, Fernando I., Rodriguez-Espinosa, Norberto, Pohl, Daniela, Nageswaran, Savithri, Grefe, Annette, Glamuzina, Emma, Bernard, Geneviève

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants von 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

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