日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy

POLR3K基因的新型致病变异导致POLR3相关性脑白质营养不良

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

Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C

由POLR3A、POLR3B和POLR1C基因双等位基因变异引起的POLR3相关脑白质营养不良的颅面特征

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

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

由FOLR1基因新型纯合致病变异引起的髓鞘发育不全:口服亚叶酸治疗后临床和影像学表现完全恢复,并进行文献回顾

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

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

利用新一代测序技术解决神经科临床中遗传性白质疾病的病因:挑战与经验教训

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

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

POLR3D基因双等位致病变异改变tRNA转录并导致髓鞘形成不足性脑白质营养不良:病例报告

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

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

遗传性脑白质病患儿父母与医疗保健系统互动体验:一项定性研究

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

Oculodentodigital Dysplasia: A Cause of Hypomyelinating Leukodystrophy in Adults

眼齿指发育不良:成人髓鞘形成不足性脑白质营养不良的病因

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Lucia, Cassandra; Tran, Luan T; Thiffault, Isabelle; Köhler, Wolfgang; Bernard, Geneviève

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

患有遗传性脑白质病的儿童的父母在新冠疫情期间对调整后的医疗保健服务的看法

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

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

由POLR3A、POLR3B和POLR1C基因变异引起的4H脑白质营养不良的内分泌和生长异常

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; Sébire, Guillaume; Lourenço, Charles Marques; Bonkowsky, Joshua L; Catsman-Berrevoets, Coriene; Pinto, Pedro S; Tirupathi, Sandya; Strømme, Petter; de Grauw, Ton; Gieruszczak-Bialek, Dorota; Krägeloh-Mann, Ingeborg; Mierzewska, Hanna; Philippi, Heike; Rankin, Julia; Atik, Tahir; Banwell, Brenda; Benko, William S; Blaschek, Astrid; Bley, Annette; Boltshauser, Eugen; Bratkovic, Drago; Brozova, Klara; Cimas, Icíar; Clough, Christopher; Corenblum, Bernard; Dinopoulos, Argirios; Dolan, Gail; Faletra, Flavio; Fernandez, Raymond; Fletcher, Janice; Garcia Garcia, Maria Eugenia; Gasparini, Paolo; Gburek-Augustat, Janina; Gonzalez Moron, Dolores; Hamati, Aline; Harting, Inga; Hertzberg, Christoph; Hill, Alan; Hobson, Grace M; Innes, A Micheil; Kauffman, Marcelo; Kirwin, Susan M; Kluger, Gerhard; Kolditz, Petra; Kotzaeridou, Urania; La Piana, Roberta; Liston, Eriskay; McClintock, William; McEntagart, Meriel; McKenzie, Fiona; Melançon, Serge; Misbahuddin, Anjum; Suri, Mohnish; Monton, Fernando I; Moutton, Sebastien; Murphy, Raymond P J; Nickel, Miriam; Onay, Hüseyin; Orcesi, Simona; Özkınay, Ferda; Patzer, Steffi; Pedro, Helio; Pekic, Sandra; Pineda Marfa, Mercedes; Pizzino, Amy; Plecko, Barbara; Poll-The, Bwee Tien; Popovic, Vera; Rating, Dietz; Rioux, Marie-France; Rodriguez Espinosa, Norberto; Ronan, Anne; Ostergaard, John R; Rossignol, Elsa; Sanchez-Carpintero, Rocio; Schossig, Anna; Senbil, Nesrin; Sønderberg Roos, Laura K; Stevens, Cathy A; Synofzik, Matthis; Sztriha, László; Tibussek, Daniel; Timmann, Dagmar; Tonduti, Davide; van de Warrenburg, Bart P; Vázquez-López, Maria; Venkateswaran, Sunita; Wasling, Pontus; Wassmer, Evangeline; Webster, Richard I; Wiegand, Gert; Yoon, Grace; Rotteveel, Joost; Schiffmann, Raphael; van der Knaap, Marjo S; Vanderver, Adeline; Martos-Moreno, Gabriel Á; Polychronakos, Constantin; Wolf, Nicole I; Bernard, Geneviève

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

LSM7基因变异会损害斑马鱼LSM复合物的组装和神经发育,并可能与一种极其罕见的神经系统疾病有关。

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