Perifere Neuropathieën

Publicaties

Novel HSPB8 mutations in severe early-onset myopathy with involvement of respiratory and cardiac muscles cause proteostasis defects in cell models

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European journal of human genetics - ISSN 1018-4813- (2025) p.
Auteur(s)
    Barbara Tedesco, Stojan Peric, Goknur Selen Kocak, Jiayan Tan, Han Duong, Ana Topf, Vidosava Rakocevic-Stojanovic, Sanja Milenkovic, Yolande Parkhurst, Liliane Gibbs, Angela Martin-Rios, Pier D. Lambiase, Oliver P. Guttmann, Chiara Marini-Bettolo, Elizabeth Harris, Matthew B. Harms, Vukan Ivanovic, Veronica Marchesi, Margherita Milone, Vincent Timmerman, Volker Straub, Angelo Poletti, Virginia Kimonis

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

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Genome research - ISSN 1088-9051-35:4 (2025) p. 755-768
Auteur(s)
    Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A. Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Marjan Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G. Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, Leslie Matalonga, Steven Laurie, Han G. Brunner, Holm Graessner, Sergi Beltran, Alexander Hoischen

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)