Perifere Neuropathieën

Publicaties

The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease

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Nature genetics - ISSN 1061-4036-57 (2025) p. 2361-2370
Auteur(s)
    Vicente A. Yepez, German Demidov, Kornelia Ellwanger, Steven Laurie, Rebeka Luknarova, Midhuna Immaculate Joseph Maran, Thomas Hentrich, Lydia Sagath, Bart van der Sanden, Galuh Astuti, Kornelia Neveling, Laura Batlle-Maso, Danique Beijer, Felix Brechtmann, Andres Caballero-Oteyza, Marc Dabad, Anne-Sophie Denomme-Pichon, Cenna Doornbos, Zakaria Eddafir, Berta Estevez-Arias, Ozge Aksel Kilicarslan, Ingrid H. M. Kolen, Leon Krass, Katja Lohmann, Shubhankar Londhe, Estrella Lopez-Martin, Kars Maassen, William Macken, Beatriz Martinez-Delgado, Davide Mei, Christian Mertes, Raffaella Minardi, Heba Morsy, Juliane S. Mueller, Daniel Natera-de Benito, Isabelle Nelson, Machteld M. Oud, Ida Paramonov, Daniel Pico, Davide Piscia, Kiran Polavarapu, Emanuele Raineri, Marco Savarese, Noor Smal, Marloes Steehouwer, Wouter Steyaert, Morris A. Swertz, Mirja Thomsen, Liedewei Van de Vondel, Holm Graessner

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 1018-4813-33:8 (2025) p. 1015-1024
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