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

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

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

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy

扩展 RNA 聚合酶 III 相关脑白质营养不良的表型和分子谱

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

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

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

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

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

由双等位基因POLR1C致病变异引起的POLR3相关脑白质营养不良的临床谱

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

Dystonia in RNA Polymerase III-Related Leukodystrophy

RNA聚合酶III相关脑白质营养不良中的肌张力障碍

Al Yazidi, Ghalia; Tran, Luan T; Guerrero, Kether; Vanderver, Adeline; Schiffmann, Raphael; Wolf, Nicole I; Chouinard, Sylvain; Bernard, Geneviève

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

编码谷氨酰-脯氨酰-氨酰-tRNA合成酶的EPRS基因的双等位基因突变会导致髓鞘形成不足性脑白质营养不良

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