Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

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

Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Authors: Elizabeth Alexander
Valérie Allamand
Stefan Aretz
Antonio Atalaia
Jonathan Baets
Peter Balicza
Peter Balicza
Sandro Banfi
Siddharth Banka
David Beeson
Sergi Beltran
Sergi Beltran
Elisa Benetti
Chiara Marini Bettolo
Andrea Bevot
Gisèle Bonne
Anthony J. Brookes
Virginie Bros-Facer
Ange-Line Bruel
Han Brunner
Gemma Bullich
Gabriel Capella
Fátima Carneiro
Raffaele Castello
Patrick Chinnery
Andrea Ciolfi
Jill Clayton-Smith
Giulia Coarelli
Enzo Cohen
Alberto Corvo
Judith Cossins
Alessia Costa
Pedro M. Rodriguez Cruz
Bruno Dallapiccola
Daniel Danis
Claire-Sophie Davoine
Daniel Natera de Benito
Elke de Boer
Peter de Jonghe
Manuel Posada De la Paz
F. Javier Alonso García de la Rosa
Richarda M. de Voer
Beatriz Martínez Delgado
German Demidov
Anne-Sophie Denommé-Pichon
Farid Yavari Dizjikan
Séverine Drunat
Yannis Duffourd
Alexandra Durr
Alexandra Dürr
Kornelia Ellwanger
Corrie E. Erasmus
Teresinha Evangelista
Bruno Eymard
Laurence Faivre
Alessandra Ferlini
Susana Fernandes
Marcos Fernandez-Callejo
Marta Ferreira
Pedro Ferreira
Vera Franková
Carles Garcia
Luzia Garrido
Spencer Gibson
Christian Gilissen
Holm Graessner
Holm Graessner
Léna Guillot-Noel
Irene Gullo
Gulcin Gumus
Ivo Glynne Gut
Tobias Haack
Peter Hackman
Marc Hanauer
Mike Hanna
Markéta Havlovicová
Svitlana Havrylenko
Anna Heinzmann
Holger Hengel
Carles Hernández
Rebecca Herzog
Peter Heutink
Alexander Hoischen
Elke Holinski-Feder
Nicoline Hoogerbrugge
Rita Horvath
Rita Horvath
Henry Houlden
Henry Houlden
Katia Izem
Adam Jackson
Erik Janssen
Lennart Johansson
Mridul Johari
Celina São José
Christoph Kamsteeg
Erik-Jan Kamsteeg
Thomas Keane
Tjitske Kleefstra
Vlastimil Kremlik
Radka Pourová Kremliková
Sebastian Köhler
David Lagorce
Andreas Laner
Steven Laurie
Steven Laurie
Hanns Lochmüller
Hanns Lochmüller
Katja Lohmann
Katja Lohmann
Alfons Macaya
Alfons Macaya
Milan Macek
Anna Marcé-Grau
Anna Marcé-Grau
Estrella López Martín
Leslie Matalonga
Leslie Matalonga
Ana Rita Matos
Ales Maver
Ales Maver
Mehdi Mehtarizadeh
Corinne Metay
Alison Metcalfe
Judit Molnar
Maria Judit Molnar
Manuela Morleo
Francesco Muntoni
Francesco Musacchia
Alexander Münchau
Alexander Münchau
Pieter B. Neerincx
Isabelle Nelson
Marcella Neri
Vincenzo Nigro
Carla Oliveira
Annie Olry
Andres Nascimiento Osorio
Stephan Ossowski
Anastasios Papakonstantinou
Ida Paramonov
Helen Parkinson
Christine Patch
Martje Pauly
Jose Garcia Pelaez
Borut Peterlin
Borut Peterlin
Sophia Peters
Christine Peyron
Daniel Picó
Giulio Piluso
Michele Pinelli
Davide Piscia
Simone Pizzi
Kiran Polavarapu
Aurore Pélissier
Francesca Clementina Radio
Ana Rath
Jennifer Reichbauer
Mary Reilly
Alessandra Renieri
Umar Riaz
Olaf Riess
Fanny Rigour
Glenn Robert
Peter Robinson
Dieuwke Roelofs-Prins
Caroline Rooryck
Rachele Rossi
Andreas Rump
Karolis Sablauskas
Anna Sarkozy
Marco Savarese
Hans Scheffer
Evelin Schröck
Julia M. Schulze-Hentrich
Ludger Schöls
Ludger Schöls
Rebecca Schüle
Rebecca Schüle
Rita Selvatici
Alexander Senf
Thomas Shorter
Anna Katharina Sommer
Dylan Spalding
Sabine Specht
Isabel Spier
Marloes Steehouwer
Verena Steinke-Lange
Giovanni Stevanin
Wouter Steyaert
Tanya Stojkovic
Volker Straub
Marc Sturm
Morris A. Swertz
Matthis Synofzik
Matthis Synofzik
Eva Bermejo Sánchez
Marco Tartaglia
Christel Thauvin
Dana Thomasová
Rachel Thompson
Dagmar Timmann
Vincent Timmerman
Emilie Tisserant
Annalaura Torella
Aurelien Trimouille
Marek Turnovec
Ana Töpf
Bjarne Udd
Laura Valle
Bart van de Warrenburg
Bart van de Warrenburg
Joeri K. van der Velde
Gerben van der Vries
Nienke van Os
Jana Vandrovcova
Jana Vandrovcova
Alessandra Varavallo
Colin Veal
Alain Verloes
Lisenka E. L. M. Vissers
Antonio Vitobello
Marc Wadsley
Greg Warren
Melanie Wayand
Melanie Wayand
Carlo Wilke
Carlo Wilke
Burcu Yaldiz
Rabah Ben Yaou
Irina Zaharieva
Stephan Zuchner
Birte Zurek
Peter A. C. ’t Hoen
Publication date: 1 January 2021
Publisher: Eur J Hum Genet
Doi

Abstract

Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962