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

OBJECTIVE: To determine the clinical, radiologic, and molecular characteristics of RNA polymerase III-related leukodystrophy (POLR3-HLD) caused by biallelic POLR1C pathogenic variants. METHODS: A cross-sectional observational study involving 25 centers worldwide was conducted. Clinical and molecular...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurol Genet
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer 2019
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6927361/
https://ncbi.nlm.nih.gov/pubmed/32042905
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000369
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