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Academic Journal
Iker Núñez-Carpintero; Maria Rigau; Mattia Bosio; Emily O’Connor; Sally Spendiff; Yoshiteru Azuma; Ana Topf; Rachel Thompson; Peter A. C. ’t Hoen; Teodora Chamova; Ivailo Tournev; Velina Guergueltcheva; Steven Laurie; Sergi Beltran; Salvador Capella-Gutiérrez; Davide Cirillo; Hanns Lochmüller; Alfonso Valencia
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
Academic Journal
Alberto Corvò; Leslie Matalonga; Dylan Spalding; Alexander Senf; Steven Laurie; Daniel Picó-Amador; Marcos Fernandez-Callejo; Ida Paramonov; Anna Foix Romero; Emilio Garcia-Rios; Jorge Izquierdo Ciges; Anand Mohan; Coline Thomas; Andres Felipe Silva Valencia; Csaba Halmagyi; Mallory Ann Freeberg; Ana Töpf; Rita Horvath; Gary Saunders; Ivo Gut; Thomas Keane; Davide Piscia; Sergi Beltran
Cell Genomics, Vol 3, Iss 2, Pp 100246- (2023)
Academic Journal
Hong Joo Kim; Payam Mohassel; Sandra Donkervoort; Lin Guo; Kevin O’Donovan; Maura Coughlin; Xaviere Lornage; Nicola Foulds; Simon R. Hammans; A. Reghan Foley; Charlotte M. Fare; Alice F. Ford; Masashi Ogasawara; Aki Sato; Aritoshi Iida; Pinki Munot; Gautam Ambegaonkar; Rahul Phadke; Dominic G. O’Donovan; Rebecca Buchert; Mona Grimmel; Ana Töpf; Irina T. Zaharieva; Lauren Brady; Ying Hu; Thomas E. Lloyd; Andrea Klein; Maja Steinlin; Alice Kuster; Sandra Mercier; Pascale Marcorelles; Yann Péréon; Emmanuelle Fleurence; Adnan Manzur; Sarah Ennis; Rosanna Upstill-Goddard; Luca Bello; Cinzia Bertolin; Elena Pegoraro; Leonardo Salviati; Courtney E. French; Andriy Shatillo; F. Lucy Raymond; Tobias B. Haack; Susana Quijano-Roy; Johann Böhm; Isabelle Nelson; Tanya Stojkovic; Teresinha Evangelista; Volker Straub; Norma B. Romero; Jocelyn Laporte; Francesco Muntoni; Ichizo Nishino; Mark A. Tarnopolsky; James Shorter; Carsten G. Bönnemann; J. Paul Taylor
Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)
Academic Journal
Annabelle Arlt; Nicolai Kohlschmidt; Andreas Hentschel; Enrika Bartels; Claudia Groß; Ana Töpf; Pınar Edem; Nora Szabo; Albert Sickmann; Nancy Meyer; Ulrike Schara-Schmidt; Jarred Lau; Hanns Lochmüller; Rita Horvath; Yavuz Oktay; Andreas Roos; Semra Hiz
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-19 (2022)
Academic Journal
Paulo José Lorenzoni; Renata Dal-Pra Ducci; Raquel Cristina Arndt; Nyvia Milicio Coblinski Hrysay; Otto Jesus Hernandez Fustes; Ana Töpf; Hanns Lochmüller; Lineu Cesar Werneck; Cláudia Suemi Kamoi Kay; Rosana Herminia Scola
Arquivos de Neuro-Psiquiatria (2021)
Academic Journal
Lindsay B. Murphy; Olivia Schreiber‐Katz; Karen Rafferty; Agata Robertson; Ana Topf; Tracey A. Willis; Marcel Heidemann; Simone Thiele; Laurence Bindoff; Jean‐Pierre Laurent; Hanns Lochmüller; Katherine Mathews; Claudia Mitchell; John Herbert Stevenson; John Vissing; Lacey Woods; Maggie C. Walter; Volker Straub
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 757-766 (2020)
Academic Journal
Serdal Gungor; Yavuz Oktay; Semra Hiz; Álvaro Aranguren-Ibáñez; Ipek Kalafatcilar; Ahmet Yaramis; Ezgi Karaca; Uluc Yis; Ece Sonmezler; Burcu Ekinci; Mahmut Aslan; Elmasnur Yilmaz; Bilge Özgör; Sunitha Balaraju; Nora Szabo; Steven Laurie; Sergi Beltran; Daniel G. MacArthur; Denisa Hathazi; Ana Töpf; Andreas Roos; Hanns Lochmuller; Isabelle Vernos; Rita Horvath
iScience, Vol 24, Iss 1, Pp 101948- (2021)
Academic Journal
Katherine Johnson; Marta Bertoli; Lauren Phillips; Ana Töpf; Peter Van den Bergh; John Vissing; Nanna Witting; Shahriar Nafissi; Shirin Jamal-Omidi; Anna Łusakowska; Anna Kostera-Pruszczyk; Anna Potulska-Chromik; Nicolas Deconinck; Carina Wallgren-Pettersson; Sonja Strang-Karlsson; Jaume Colomer; Kristl G. Claeys; Willem De Ridder; Jonathan Baets; Maja von der Hagen; Roberto Fernández-Torrón; Miren Zulaica Ijurco; Juan Bautista Espinal Valencia; Andreas Hahn; Hacer Durmus; Tracey Willis; Liwen Xu; Elise Valkanas; Thomas E. Mullen; Monkol Lek; Daniel G. MacArthur; Volker Straub
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Academic Journal
Katherine Johnson; Ana Töpf; Marta Bertoli; Lauren Phillips; Kristl G. Claeys; Vidosava Rakocevic Stojanovic; Stojan Perić; Andreas Hahn; Paul Maddison; Ela Akay; Alexandra E. Bastian; Anna Łusakowska; Anna Kostera-Pruszczyk; Monkol Lek; Liwen Xu; Daniel G. MacArthur; Volker Straub
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)
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