Perifere Neuropathieën

Publicaties

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

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Genetics in medicine - ISSN 1098-3600-27:6 (2025) p. 1-13
Auteur(s)
    Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen, Tanya Stojkovic, Peter Hackman, Mridul Johari, Johanna Palmio, Megan A. Waldrop, Alayne P. Meyer, Stefan Nicolau, Kevin M. Flanigan, Ana Topf, Jordi Diaz-Manera, Volker Straub, Cheryl Longman, Catherine A. McWilliam, Rotem Orbach, Sumit Verma, Regina Laine, Sandra Donkervoort, Carsten G. Bonnemann, Adriana Rebelo, Stephan Zuchner, Tiffany Grider, Michael E. Shy, Isabelle Maystadt, Florence Demurger, Anita Cairns, Sarah Beecroft, Chiara Folland, Willem De Ridder, Gina Ravenscroft, Gisele Bonne, Bjarne Udd, Jonathan Baets

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

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Nature medicine - ISSN 1078-8956-31 (2025) p. 478-489
Auteur(s)
    Steven Laurie, Wouter Steyaert, Elke de Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Kornelia Ellwanger, Ida Paramonov, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jill Clayton-Smith, Enzo Cohen, Daniel Danis, Jean-Madeleine de Sainte Agathe, Anne-Sophie Denomme-Pichon, Jordi Diaz-Manera, Stephanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, Jose Garcia-Pelaez, Lena Guillot-Noel, Tobias B. Haack, Mike Hanna, Holger Hengel, Rita Horvath, Henry Houlden, Adam Jackson, Lennart Johansson, Mridul Johari, Erik-Jan Kamsteeg, Melanie Kellner, Tjitske Kleefstra, Didier Lacombe, Hanns Lochmueller, Estrella Lopez-Martin, Alfons Macaya, Anna Marce-Grau, Ales Maver, Heba Morsy, Francesco Muntoni, Francesco Musacchia, Isabelle Nelson, Liedewei Van de Vondel, Alexander Hoischen

RNA interference targeting small heat shock protein B8 failed to improve distal hereditary motor neuropathy in the mouse model

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Journal of gene medicine - ISSN 1099-498X-27:2 (2025) p. 1-18
Auteur(s)

Targeting autophagy deficits caused by small Heat Shock Protein mutations in Charcot-Marie-Tooth neuropathies

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Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, 2025,250 p.
Auteur(s)