Contracturing granulomatous myositis in a patient with rheumatoid arthritis : a case report

Source
Neuromuscular disorders - ISSN 0960-8966-36 (2024) p. 38-41
Author(s)

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1 -associated diseases

Source
Brain communications - ISSN 2632-1297-6:2 (2024) p. 1-9
Author(s)
    Danique Beijer, Sheila Marte, Jiaxin C. Li, Willem De Ridder, Jessie Z. Chen, Abigail L.D. Tadenev, Kathy E. Miers, Tine Deconinck, Richard Macdonell, Wilson Marques, Peter De Jonghe, Samia L. Pratt, Rebecca Meyer-Schuman, Stephan Züchner, Anthony Antonellis, Robert W. Burgess, Jonathan Baets

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Source
Journal of neurology - ISSN 0340-5354-270 (2023) p. 5849-5865
Author(s)
    Diana Esteller, Marianela Schiava, Rocio-Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, Pascal Laforet, Jorge Alonso-Perez, Montse Olive, Cristina Dominguez-Gonzalez, Carmen Paradas, Beatriz Velez, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Carmelo Rodolico, Kristl Claeys, Endre Pal, Edoardo Malfatti, Sarah Souvannanorath, Alicia Alonso Jimenez, Willem De Ridder, Eline De Smet, George Papadimas, Constantinos Papadopoulos, Sofia Xirou, Sushan Luo, Nuria Muelas, Juan J. Vilchez, Alba Ramos-Fransi, Mauro Monforte, Giorgio Tasca, Bjarne Udd, Johanna Palmio, Srtuhi Sri, Sabine Krause, Benedikt Schoeser, Roberto Fernandez-Torron, Adolfo Lopez de Munain, Elena Pegoraro, Maria Elena Farrugia, Mathias Vorgerd, Georgious Manousakis, Jean Baptiste Chanson, Aleksandra Nadaj-Pakleza, Hakan Cetin, Umesh Badrising, Jodi Warman-Chardon, Jorge Bevilacqua, Nicholas Earle, Mario Campero, Jordi Diaz-Manera

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Source
Genetics in medicine - ISSN 1098-3600-25:4 (2023) p. 1-15
Author(s)
    Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B. Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marcais, Tjitske Kleefstra, Estrella Lopez-Martin, Milan Macek, Maria Antonietta Mencarelli, Sebastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frederic Tran Mau-Them, Aurelien Trimouille, Pavel Votypka, Bert B.A. de Vries, Vincent Timmerman, Jonathan Baets, Geert de Vries, Jonathan De Winter, Danique Beijer, Peter De Jonghe, Liedewei Van de Vondel, Willem De Ridder, Sarah Weckhuysen, Orphanomix Group