Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Autor: Traschuetz, Andreas, Cortese, Andrea, Erer, Sevda, Schütz, Valerie Cornelia, Tarnutzer, Alexander A, Sturm, Marc, Haack, Tobias B, Vaucamps-Diedhiou, Nadège, Puccio, Helene, Schöls, Ludger, Klockgether, Thomas, van de Warrenburg, Bart P, Reich, Selina, Paucar, Martin, Timmann, Dagmar, Hilgers, Ralf-Dieter, Gazulla, Jose, Strupp, Michael, Moris, German, Filla, Alessandro, Houlden, Henry, Anheim, Mathieu, Infante, Jon, Dominik, Natalia, Basak, A Nazli, Synofzik, Matthis, Group, RFC1 Study, Barut, Banu Özen, Bilgic, Basar, Boz, Cavit, Cauquil, Cécile, Deininger, Natalie, Dufke, Claudia, Elibol, Bülent, Faber, Jennifer, Erbas, Furkan, Ertan, Sibel, Genc, Fatma, Giegling, Ina, Parman, Yesim, Rossi, Salvatore, Salcin, Celal, Tan, Meliha, Taştekin, Hilal, Tranchant, Christine, Jacobi, Heike, Uygun, Günes, Yassa, Özge Yagcioglu, Hartmann, Annette M, Rujescu, Dan, Montaut, Solveig, Echaniz-Laguna, Andoni

Publikováno v: Neurology, 96, 9, pp. e1369-e1382
Neurology 96(9), e1369-e1382 (2021). doi:10.1212/WNL.0000000000011528
Neurology Mar 2021, 96 (9) e1369-e1382
UCrea Repositorio Abierto de la Universidad de Cantabria
Universidad de Cantabria (UC)
Neurology
article-version (Version of Record) 3
Neurology, 96, e1369-e1382
Neurology, 2021, 96 (9), ⟨10.1212/WNL.0000000000011528⟩

Objective: to delineate the full phenotypic spectrum, discriminative features, piloting longitudinal progression data, and sample size calculations of replication factor complex subunit 1 (RFC1) repeat expansions, recently identified as causing cereb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a4bfc382eed144b4826110f91fe989c
https://repository.ubn.ru.nl/handle/2066/235660