Monoallelic POLR3A variants cause early-onset peripheral neuropathy

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Annals of neurology - ISSN 0364-5134- (2026) p.
Auteur(s)
    Luiza Lorena Pires Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez-Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D.M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayşe Candayan, Albena Jordanova

Clinical variability and onset age modifiers in an extended Belgian GRN founder family

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Neurobiology of aging - ISSN 0197-4580-67 (2018) p. 84-94
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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

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Scientific reports - ISSN 2045-2322-6 (2016) p.
Auteur(s)
    Steven Boeynaems, Elke Bogaert, Emiel Michiels, Ilse Gijselinck, Anne Sieben, Ivy Cuijt, Marc Cruts, Christine Van Broeckhoven, et al.

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort

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Neurology - ISSN 0028-3878-85:24 (2015) p. 2116-2125
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