The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force
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
Published in Cerebellum (London, England) (01.12.2019)
Published in Cerebellum (London, England) (01.12.2019)
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Journal Article
Molecular pathogenesis of spinocerebellar ataxias
Dueñas, Antoni Matilla, Goold, Robert, Giunti, Paola
Published in Brain (London, England : 1878) (01.06.2006)
Published in Brain (London, England : 1878) (01.06.2006)
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Journal Article
Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37
Corral-Juan, Marc, Serrano-Munuera, Carmen, Rábano, Alberto, Cota-González, Daniel, Segarra-Roca, Anna, Ispierto, Lourdes, Cano-Orgaz, Antonio Tomás, Adarmes, Astrid D, Méndez-del-Barrio, Carlota, Jesús, Silvia, Mir, Pablo, Volpini, Victor, Alvarez-Ramo, Ramiro, Sánchez, Ivelisse, Matilla-Dueñas, Antoni
Published in Brain (London, England : 1878) (01.07.2018)
Published in Brain (London, England : 1878) (01.07.2018)
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Journal Article
POLR3A-related spastic ataxia: new mutations and a look into the phenotype
Infante, Jon, Serrano-Cárdenas, Karla M., Corral‐Juan, Marc, Farré, Xavier, Sánchez, Ivelisse, de Lucas, Enrique M., García, Antonio, Martín-Gurpegui, José Luis, Berciano, José, Matilla-Dueñas, Antoni
Published in Journal of neurology (01.02.2020)
Published in Journal of neurology (01.02.2020)
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Journal Article
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32
Serrano-Munuera, Carmen, Corral-Juan, Marc, Stevanin, Giovanni, San Nicolás, Hector, Roig, Carles, Corral, Jordi, Campos, Berta, de Jorge, Laura, Morcillo-Suárez, Carlos, Navarro, Arcadi, Forlani, Sylvie, Durr, Alexandra, Kulisevsky, Jaime, Brice, Alexis, Sánchez, Ivelisse, Volpini, Victor, Matilla-Dueñas, Antoni
Published in JAMA neurology (01.06.2013)
Published in JAMA neurology (01.06.2013)
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Journal Article
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders
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
Published in Journal of translational medicine (28.08.2019)
Published in Journal of translational medicine (28.08.2019)
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Journal Article
Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene
Manrique, Leire, Sánchez‐Rodríguez, Antonio, Pelayo‐Negro, Ana L., Corral‐Juan, Marc, Matilla‐Dueñas, Antoni, Infante, Jon
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2021)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2021)
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Journal Article
Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
López, Eva, Casasnovas, Carlos, Giménez, Javier, Matilla-Dueñas, Antoni, Sánchez, Ivelisse, Volpini, Víctor
Published in Neurogenetics (01.04.2015)
Published in Neurogenetics (01.04.2015)
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Journal Article
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Sanchez-Flores, Marina, Corral-Juan, Marc, Gasch-Navalón, Esther, Cirillo, Davide, Sanchez, Ivelisse, Matilla-Dueñas, Antoni
Published in Human genetics (01.03.2024)
Published in Human genetics (01.03.2024)
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Journal Article
Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter
Martin-Trujillo, Alex, Iglesias-Platas, Isabel, Coto, Eliecer, Corral-Juan, Marc, San Nicolás, Hector, Corral, Jordi, Volpini, Victor, Matilla-Dueñas, Antoni, Monk, David
Published in Epigenetics (01.10.2011)
Published in Epigenetics (01.10.2011)
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Journal Article
Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia
López, Eva, Casasnovas, Carlos, Giménez, Javier, Matilla-Dueñas, Antoni, Sánchez, Ivelisse, Volpini, Víctor
Published in Neurogenetics (2022)
Published in Neurogenetics (2022)
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Journal Article
Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1
Matilla-Dueñas, Antoni, Goold, Robert, Giunti, Paola
Published in Cerebellum (London, England) (01.06.2008)
Published in Cerebellum (London, England) (01.06.2008)
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Journal Article
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
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
Published in Human genetics (01.12.2023)
Published in Human genetics (01.12.2023)
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Journal Article
Rare Neurodegenerative Diseases: Clinical and Genetic Update
Matilla-Dueñas, Antoni, Corral-Juan, Marc, Rodríguez-Palmero Seuma, Agustí, Vilas, Dolores, Ispierto, Lourdes, Morais, Sara, Sequeiros, Jorge, Alonso, Isabel, Volpini, Víctor, Serrano-Munuera, Carmen, Pintos-Morell, Guillem, Álvarez, Ramiro, Sánchez, Ivelisse
Published in Advances in experimental medicine and biology (2017)
Published in Advances in experimental medicine and biology (2017)
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Book Chapter
Journal Article
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)
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
Published in Brain communications (2022)
Published in Brain communications (2022)
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Journal Article