Clinical and Genotypic Spectrum of Twinkle-Related Disorders
Year: 2026
Type: article
Study design: Observational Study
Source: Neurology
Authors: Piervito Lopriore, Zeynep Ünlütürk, Thomas Klopstock, Amel Karaa, Cecile Rouzier, Cristina Domínguez-González, Costanza Lamperti, Michelangelo Mancuso, Giulia Cecchi, Vincenzo Montano, Gabriele Siciliano, Valeria Nicoletta, Mariantonietta Maioli, Guido Primiano, Serenella Servidei, Chiara La Morgia, Valerio Carelli, Maria Lucia Valentino, Leonardo Caporali, Ignazio Giuseppe Arena, Olimpia Musumeci, Diego Lopergolo, Alessandro Malandrini, Gian Nicola Gallus, Massimiliano Filosto, Luca Bello, Elena Pegoraro, Giacomo Pietro Comi, Francesca Magri, Dario Ronchi, Alessio Di Fonzo, Marco Percetti, Matteo Azzimonti, Boriana Büchner, Holger Prokisch, Laura Bermejo-Guerrero, Vincent Procaccio, Pauline Gaignard, Andoni Echaniz-Laguna, Manuel Schiff, Agnès Rötig, Annick Toutain, Véronique Paquis-Flucklinger, Godelieve Morel, Stéphanie Robin, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Annabelle Chaussenot, Samira Ait-El-Mkadem Saadi, Aurélien Trimouille, Christine Tranchant, Emmanuelle Salort-Campana, Eric Bieth, Sabrina Sacconi, Fanny Duval, Juan Luis Restrepo Vera, Maria Judit Molnar, John Vissing, Richard Haas, Austin Larson, Gregory M. Enns, Sumit Parikh, Amy Goldstein, Michio Hirano
Institutions: University of Pisa, Scuola Superiore Sant'Anna, Sağlık Bilimleri Üniversitesi, Health Sciences University Derince Training and Research Hospital, German Center for Neurodegenerative Diseases, LMU Klinikum, Munich Cluster for Systems Neurology, Ludwig-Maximilians-Universität München, Harvard University, Massachusetts General Hospital, Centre National de la Recherche Scientifique, Inserm, Université Côte d'Azur, Centre Hospitalier Universitaire de Nice, Institut de Recherche sur le Cancer et le Vieillissement de Nice, Research Institute Hospital 12 de Octubre, Hospital Universitario 12 De Octubre, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Fondazione IRCCS Istituto Neurologico Carlo Besta, Università Cattolica del Sacro Cuore, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, Istituto delle Scienze Neurologiche di Bologna, University of Bologna, University of Messina, University of Siena, Azienda Ospedaliera Universitaria Senese, University of Brescia, University of Padua, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Helmholtz Munich, Institut für Humangenetik, Technical University of Munich, Centre Hospitalier Universitaire d'Angers, Université d'Angers, Université Paris-Saclay, Assistance Publique – Hôpitaux de Paris, Bicêtre Hospital, Hôpital Necker-Enfants Malades, Université Paris Cité, Institut des Maladies Génétiques Imagine, Université de Tours, Imaging, Brain, and Neuropsychiatry, Centre Hospitalier Universitaire de Tours, Centre Hospitalier Universitaire de La Réunion, Hôpitaux Universitaires de Strasbourg, ERN EURO-NMD, Centre Hospitalier Universitaire de Bordeaux, Maladies Rares: Génétique et Métabolisme, Institut de génétique et de biologie moléculaire et cellulaire, Université de Strasbourg, Hôpital de la Timone, Hôpital Purpan, Hôpital Pellegrin, Universitat Autònoma de Barcelona, Vall d'Hebron Hospital Universitari, Semmelweis University, University of Copenhagen, Rigshospitalet, University of California San Diego, Rady Children's Hospital-San Diego, Children's Hospital Colorado, University of Colorado Denver, Lucile Packard Children's Hospital, Stanford University, Cleveland Clinic, Children's Hospital of Philadelphia, Columbia University Irving Medical Center, Columbia University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W7124470374