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

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Authors: Andreas Traschütz, MD, PhD, Andrea Cortese, MD, PhD, Selina Reich, MSc, Natalia Dominik, MSc, Jennifer Faber, MD, Heike Jacobi, MD, Annette M. Hartmann, PhD, Dan Rujescu, MD, Solveig Montaut, MD, Andoni Echaniz-Laguna, MD, Sevda Erer, MD, Valerie Cornelia Schütz, MD, Alexander A. Tarnutzer, MD, Marc Sturm, PhD, Tobias B. Haack, MD, Nadège Vaucamps-Diedhiou, MSc, Helene Puccio, PhD, Ludger Schö

Journal title: Neurology

Journal number: Mar 2; 96(9)

Journal publisher: Lippincott Williams & Wilkins Ltd.

Published year: 2021

Published pages: e1369–e1382

DOI identifier: 10.1212/wnl.0000000000011528

ISSN: 0028-3878