Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Schüle, Rebecca; Timmann, Dagmar; E. Erasmus, Corrie; Reichbauer, Jennifer; Wayand, Melanie; , Solve-RD-DITF-RND; Baets, Jonathan; Balicza, Péter; F. Chinnery, Patrick; Dürr, Alexandra; B. Haack, Tobias; Hengel, Holger; Horváth, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé‐Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Rieß, Olaf; Schöls, Ludger; Schüle, Rebecca; Stévanin, Giovanni; Synofzik, Matthis; Timmerman, Vincent; van de Warrenburg, Bart; van Os, Nienke; Vandrovcova, Jana; Wayand, Melanie; Wilke, Carlo; van de Warrenburg, Bart; Schöls, Ludger; Wilke, Carlo; Bevot, Andrea; Züchner, Stephan; Beltran, Sergi; Laurie, Steven; Matalonga, Leslie; Graeßner, Holm; Synofzik, Matthis; Graeßner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; M. Schulze‐Hentrich, Julia; Heutink, Peter; G. Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoischen, Alexander; A.C. ’t Hoen, Peter; E.L.M. Vissers, Lisenka; Gilissen, Christian; Steyaert, Wouter; Sablauskas, Karolis; M. de Voer, Richarda; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Yaldız, Burcu; Kleefstra, Tjitske; J. Brookes, Anthony; Veal, Colin; Gibson, Spencer; Wadsley, Marc; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Yavari Dizjikan, Farid; Shorter, Thomas; Töpf, Ana; Straub, Volker; Marini Bettolo, C.; Specht, Sabine; Clayton‐Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé‐Pichon, Anne‐Sophie; Duffourd, Yannis; Tisserant, Émilie; Bruel, Ange‐Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Marta; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvò, Alberto; García, Carles; Fernández-Callejo, Marcos; Hernandéz-Ferrer, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros‐Facer, Virginie; Rath, Ana; Hanauer, Marc; Olry, Annie; Lagorce, David; Havrylenko, Svitlana; Izem, Katia; Rigour, Fanny; Dürr, Alexandra; Davoine, Claire-Sophie; Guillot‐Noël, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Ben Yaou, Rabah; Métay, Corinne; Eymard, B.; Cohen, Enzo; Atalaia, António; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Pourová Kremliková, Radka; Franková, Věra; Havlovicová, Markéta; Kremlik, Vlastimil; Parkinson, Helen; Keane, Thomas; Spalding, Dylan; Senf, Alexander; Robinson, Peter; Daniš, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; M. Reilly, Mary; Vandrovcova, Jana; Muntoni, Francesco; Zaharieva, Irina; Sárközy, Anna; De Jonghe, Peter; Nigro, Vincenzo; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Katharina Sommer, Anna; Peters, Sophia; Oliveíra, Carla; Garcia‐Pelaez, José; Rita Matos, Ana; São José, Celina; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris; Johansson, Lennart; K. van der Velde, Joeri; van der Vries, Gerben; B. Neerincx, Pieter; Roelofs-Prins, Dieuwke; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Rooryck, Caroline; Trimouille, Aurélien; Castello, Raffaele; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Posada de la Paz, Manuel; Bermejo, Eva; López Martín, Estrella; Martínez Delgado, Beatriz; Javier Alonso García de la Rosa, F.; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Clementina Radio, Francesca; Tartaglia, Marco; Renieri, Alessandra; Benetti, Elisa; Balicza, Péter; Judit Molnár, Mária; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; G. Pauly, Martje; Macaya, Alfons; Marcé‐Grau, Anna; Nascimiento Osorio, Andres; Natera‐de Benito, Daniel; Lochmüller, Hanns; Thompson, Rachel; Polavarapu, Kiran; Beeson, David; Cossins, Judith; M. Rodríguez Cruz, Pedro; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horváth, Rita; Capellá, Gabriel; Valle, Laura; Holinski‐Feder, Elke; Laner, Andreas; Steinke‐Lange, Verena; Schröck, Evelin; Rump, Andreas

doi:10.1038/s41431-021-00901-1

Public

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Published in European Journal of Human Genetics • May 10, 2021

Authors:

Rebecca Schüle

Dagmar Timmann

Corrie E. Erasmus

Abstract

Rare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been...

Subject

Medicine

Computational biology

Computer science

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!