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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 3
2023
Poggio, Elena; Barazzuol, Lucia; Salmaso, Andrea; Milani, Celeste; Deligiannopoulou, Adamantia; Cazorla, Angeles Garcia; Jang, Se Song; Julia-Palacios, Natalia; Keren, Boris; Kopajtich, Robert; Lynch, Sally Ann; Mignot, Cyril; Moorwood, Catherine; Neuhofer, Christiane; Nigro, Vincenzo; Oostra, Anna; Prokisch, Holger; Saillour, Virginie; Schuermans, Nika; Torella, Annalaura; Verloo, Patrick; Yazbeck, Elise; Zollino, Marcella; Jech, Robert; Winkelmann, Juliane; Necpal, Jan; Cali, Tito; Brini, Marisa und Zech, Michael
(2023):
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures.
In: Genetics in Medicine, Bd. 25, Nr. 12, 100971
2020
Alonso-Perez, Jorge; Gonzalez-Quereda, Lidia; Bello, Luca; Guglieri, Michela; Straub, Volker; Gallano, Pia; Semplicini, Claudio; Pegoraro, Elena; Zangaro, Vittoria; Nascimento, Andres; Ortez, Carlos; Comi, Giacomo Pietro; ten Dam, Leroy; De Visser, Marianne; Kooi, A. J. van der; Garrido, Cristina; Santos, Manuela; Schara, Ulrike; Gangfuss, Andrea; Lokken, Nicoline; Storgaard, Glesper Helbo; Vissing, John; Schoser, Benedikt; Dekomien, Gabriele; Udd, Bjarne; Palmio, Johanna; D'Amico, Adele; Politano, Luisa; Nigro, Vincenzo; Bruno, Claudio; Panicucci, Chiara; Sarkozy, Anna; Abdel-Mannan, Omar; Alonsolimenez, Alicia; Claeys, Kristl G.; Gomez-Andres, David; Munell, Francina; Costa-Comellas, Laura; Haberlova, Jana; Rohlenova, Marie; Elke, De Vos; De Bleecker, Jan L.; Dominguez-Gonzalez, Cristina; Tasca, Giorgio; Weiss, Claudia; Deconinck, Nicolas; Fernandez-Torron, Roberto; de Munain, Adolfo Lopez; Camacho-Salas, Ana; Melegh, Bela; Hadzsiev, Kinga; Leonardis, Lea; Koritnik, Blaz; Garibaldi, Matteo; De Leon-Hernandez, Juan Carlos; Malfatti, Edoardo; Fraga-Bau, Arturo; Richard, Isabelle; Illa, Isabel und Diaz-Manera, Jordi
(2020):
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
In: Brain, Bd. 143: S. 2696-2708
2018
Brusa, Roberta; Magri, Francesca; Papadimitriou, Dimitra; Govoni, Alessandra; Bo, Roberto del; Ciscato, Patrizia; Savarese, Marco; Cinnante, Claudia; Walter, Maggie C.; Abicht, Angela; Bulst, Stefanie; Corti, Stefania; Moggio, Maurizio; Bresolin, Nereo; Nigro, Vincenzo und Comi, Giacomo Pietro
(2018):
A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature.
In: Neuromuscular Disorders, Bd. 28, Nr. 6: S. 532-537