Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

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Journal of neurology - ISSN 0340-5354-270 (2023) p. 5849-5865
Auteur(s)
    Diana Esteller, Marianela Schiava, Rocio-Nur Villar-Quiles, Boris Dibowski, Nadia Venturelli, Pascal Laforet, Jorge Alonso-Perez, Montse Olive, Cristina Dominguez-Gonzalez, Carmen Paradas, Beatriz Velez, Anna Kostera-Pruszczyk, Biruta Kierdaszuk, Carmelo Rodolico, Kristl Claeys, Endre Pal, Edoardo Malfatti, Sarah Souvannanorath, Alicia Alonso Jimenez, Willem De Ridder, Eline De Smet, George Papadimas, Constantinos Papadopoulos, Sofia Xirou, Sushan Luo, Nuria Muelas, Juan J. Vilchez, Alba Ramos-Fransi, Mauro Monforte, Giorgio Tasca, Bjarne Udd, Johanna Palmio, Srtuhi Sri, Sabine Krause, Benedikt Schoeser, Roberto Fernandez-Torron, Adolfo Lopez de Munain, Elena Pegoraro, Maria Elena Farrugia, Mathias Vorgerd, Georgious Manousakis, Jean Baptiste Chanson, Aleksandra Nadaj-Pakleza, Hakan Cetin, Umesh Badrising, Jodi Warman-Chardon, Jorge Bevilacqua, Nicholas Earle, Mario Campero, Jordi Diaz-Manera

Genotype-phenotype correlations in valosin-containing protein disease : a retrospective muticentre study

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Journal of neurology, neurosurgery and psychiatry - ISSN 0022-3050-93:10 (2022) p. 1099-1111
Auteur(s)
    Marianela Schiava, Chiseko Ikenaga, Rocio Nur Villar-Quiles, Marta Caballero-Avila, Ana Topf, Ichizo Nishino, Virginia Kimonis, Bjarne Udd, Benedikt Schoser, Edmar Zanoteli, Paulo Victor Sgobbi Souza, Giorgio Tasca, Thomas Lloyd, Adolfo Lopez-de Munain, Carmen Paradas, Elena Pegoraro, Aleksandra Nadaj-Pakleza, Jan De Bleecker, Umesh Badrising, Alicia Alonso Jimenez, Anna Kostera-Pruszczyk, Francesc Miralles, Jin-Hong Shin, Jorge Alfredo Bevilacqua, Montse Olive, Matthias Vorgerd, Rudi Kley, Stefen Brady, Timothy Williams, Cristina Dominguez-Gonzalez, George K. Papadimas, Jodi Warman, Kristl G. Claeys, Marianne de Visser, Nuria Muelas, Pascal LaForet, Edoardo Malfatti, Lindsay N. Alfano, Sruthi S. Nair, Georgios Manousakis, Hani A. Kushlaf, Matthew B. Harms, Christopher Nance, Alba Ramos-Fransi, Carmelo Rodolico, Channa Hewamadduma, Hakan Cetin, Jorge Garcia-Garcia, Endre Pal, Jordi Diaz-Manera

Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands

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European journal of neurology - ISSN 1351-5101-29:5 (2022) p. 1488-1495
Auteur(s)
    Jorge Alonso-Perez, Juan Carlos de Leon Hernandez, Helena Perez-Perez, Maria Dolores Mendoza-Grimon, Antonio Jose Gutierrez-Martinez, Ioanna Hadjigeorgiou, Fernando Monton-Alvarez, Lidia Gonzalez-Quereda, Alicia Alonso Jimenez, Xavier Suarez-Calvet, Jordi Diaz-Manera

Autochthonous cases of tick-borne encephalitis, Belgium, 2020

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Emerging infectious diseases - ISSN 1080-6040-27:8 (2021) p. 2179-2182
Auteur(s)