The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

por Beaudin, Marie, Matilla-Dueñas, Antoni, Soong, Bing-Weng, Pedroso, Jose Luiz, Barsottini, Orlando G., Mitoma, Hiroshi, Tsuji, Shoji, Schmahmann, Jeremy D., Manto, Mario, Rouleau, Guy A, Klein, Christopher, Dupre, Nicolas
Publicado 2019

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

por Domínguez-Ruiz, María, García-Martínez, Alberto, Corral-Juan, Marc, Pérez-Álvarez, Ángel I., Plasencia, Ana M., Villamar, Manuela, Moreno-Pelayo, Miguel A., Matilla-Dueñas, Antoni, Menéndez-González, Manuel, del Castillo, Ignacio
Publicado 2019

New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

por Corral-Juan, Marc, Casquero, Pilar, Giraldo-Restrepo, Natalia, Laurie, Steve, Martinez-Piñeiro, Alicia, Mateo-Montero, Raidili Cristina, Ispierto, Lourdes, Vilas, Dolores, Tolosa, Eduardo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni
Publicado 2022

Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

por Martins, Sandra, Yahia, Ashraf, Costa, Inês P. D., Siddig, Hassab E., Abubaker, Rayan, Koko, Mahmoud, Corral-Juan, Marc, Matilla-Dueñas, Antoni, Brice, Alexis, Durr, Alexandra, Leguern, Eric, Ranum, Laura P. W., Amorim, António, Elsayed, Liena E. O., Stevanin, Giovanni, Sequeiros, Jorge
Publicado 2023