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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
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
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
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 2, p. e660, doi. 10.1210/clinem/dgaa700
By:
- Pelletier, Félixe;
- Perrier, Stefanie;
- Cayami, Ferdy K.;
- Mirchi, Amytice;
- Saikali, Stephan;
- Tran, Luan T.;
- Ulrick, Nicole;
- Guerrero, Kether;
- Rampakakis, Emmanouil;
- van Spaendonk, Rosalina M. L.;
- Naidu, Sakkubai;
- Pohl, Daniela;
- Gibson, William T.;
- Demos, Michelle;
- Goizet, Cyril;
- Tejera-Martin, Ingrid;
- Potic, Ana;
- Fogel, Brent L.;
- Brais, Bernard;
- Sylvain, Michel
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
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
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
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
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Published in:
Nature Communications, 2015, v. 6, n. 7, p. 7623, doi. 10.1038/ncomms8623
By:
- 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.
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
The voltage-gated calcium channel blocker lomerizine is neuroprotective in motor neurons expressing mutant SOD1, but not TDP-43.
Published in:
Journal of Neurochemistry, 2014, v. 130, n. 3, p. 455, doi. 10.1111/jnc.12738
By:
- Tran, Luan T.;
- Gentil, Benoit J.;
- Sullivan, Kathleen E.;
- Durham, Heather D.
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
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

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