RFC1 repeat expansions : a recurrent cause of sensory and autonomic neuropathy with cough and ataxia

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European journal of neurology - ISSN 1468-1331-29:7 (2022) p. 2156-2161
Auteur(s)
    Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets

De novo and dominantly inherited SPTAN1 mutations cause spastic paraplegia and cerebellar ataxia

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Movement disorders: video, videotape supplements - ISSN 0885-3185-37:6 (2022) p. 1175-1186
Auteur(s)
    Liedewei Van de Vondel, Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau, Martje G. Pauly, Katrin Klein, Maren Rautenberg, Léna Guillot‐Noël, Tine Deconinck, Atay Vural, Sibel Ertan, Okan Dogu, Hilmi Uysal, Vesna Brankovic, Rebecca Herzog, Alexis Brice, Alexandra Durr, Stephan Klebe, Friedrich Stock, Almut Turid Bischoff, Tim W. Rattay, María‐Jesús Sobrido, Giovanna De Michele, Peter De Jonghe, Katja Lohmann, Ginevra Zanni, Filippo M. Santorelli, Vincent Timmerman, Tobias B. Haack, Stephan Züchner, Rebecca Schüle, Giovanni Stevanin, Matthis Synofzik, A. Nazli Basak, Jonathan Baets