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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Diagnosis of Charcot-Marie-Tooth Disease
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Published in BioMed research international (01.01.2009)
Published in BioMed research international (01.01.2009)
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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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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48)
Genis, David, Ortega-Cubero, Sara, San Nicolás, Hector, Corral, Jordi, Gardenyes, Josep, de Jorge, Laura, López, Eva, Campos, Berta, Lorenzo, Elena, Tonda, Raúl, Beltran, Sergi, Negre, Montserrat, Obón, María, Beltran, Brigitte, Fàbregas, Laura, Alemany, Berta, Márquez, Fabián, Ramió-Torrentà, Lluís, Gich, Jordi, Volpini, Víctor, Pastor, Pau
Published in Neurology (20.11.2018)
Published in Neurology (20.11.2018)
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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia
Sintas, Cèlia, Carreño, Oriel, Fernàndez-Castillo, Noèlia, Corominas, Roser, Vila-Pueyo, Marta, Toma, Claudio, Cuenca-León, Ester, Barroeta, Isabel, Roig, Carles, Volpini, Víctor, Macaya, Alfons, Cormand, Bru
Published in Scientific reports (31.05.2017)
Published in Scientific reports (31.05.2017)
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Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study
Perez de los Cobos, Jose, Baiget, Montserrat, Trujols, Joan, Sinol, Nuria, Volpini, Victor, Banuls, Enrique, Calafell, Francesc, Luquero, Elena, del Rio, Elisabeth, Alvarez, Enric
Published in Behavioral and brain functions (01.06.2007)
Published in Behavioral and brain functions (01.06.2007)
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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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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
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A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases
Sánchez-Corona, José, Ramirez-Garcia, Sergio Alberto, Castañeda-Cisneros, Gema, Gutiérrez-Rubio, Susan Andrea, Volpini, Víctor, Sánchez-Garcia, Diana M., García-Ortiz, José Elías, García-Cruz, Diana
Published in Genetics and molecular biology (01.01.2020)
Published in Genetics and molecular biology (01.01.2020)
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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer
Campos, Berta, Balmaña, Judith, Gardenyes, Josep, Valenzuela, Irene, Abad, Oscar, Fàbregas, Pere, Volpini, Víctor, Díez, Orland
Published in Breast cancer research and treatment (01.06.2013)
Published in Breast cancer research and treatment (01.06.2013)
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A FEMALE CASE OF SPINOCEREBELLAR ATAXIA TYPE 10 WITH SUICIDAL BEHAVIOR AND ENDOCRINPATHIES ASSOCIATED WITH A MASSIVE EXPANSION (ATTCT) OF THE GENE ATXN10
Ramirez-Garcia, Sergio A, Sánchez-Corona, José, Volpini-Bertran, Víctor, Moran-Moguel, María Cristina, Gutiérrez-Rubio, Susan A, Castañeda-Cisneros, Gema, Jiménez-Gil, Javier, Garcia-Cruz, Diana
Published in Actas espanolas de psiquiatria (01.01.2022)
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Published in Actas espanolas de psiquiatria (01.01.2022)
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Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
López, Eva, Casasnovas, Carlos, Giménez, Javier, Santamaría, Raúl, Terrazas, Jesús Mª, Volpini, Víctor
Published in Journal of the neurological sciences (15.11.2015)
Published in Journal of the neurological sciences (15.11.2015)
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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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A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signals
Andreu, Nuria, García-Rodríguez, Maricruz, Volpini, Victor, Frecha, Cecilia, Molina, Ignacio J, Fontan, Gumersindo, Fillat, Cristina
Published in Journal of human genetics (01.02.2006)
Published in Journal of human genetics (01.02.2006)
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Diagnosis of Charcot-Marie-Tooth Disease
Volpini, Victor, Montero, Jordi, Povedano, Mònica, De Jorge, Laura, Albertí, Antonia, Casasnovas, Carlos, Banchs, Isabel, Martínez-Matos, Juan Antonio
Published in BioMed research international (01.10.2009)
Published in BioMed research international (01.10.2009)
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Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene
Cuenca-León, Ester, Banchs, Isabel, Serra, Selma A, Latorre, Pilar, Fernàndez-Castillo, Noèlia, Corominas, Roser, Valverde, Miguel A, Volpini, Víctor, Fernández-Fernández, José M, Macaya, Alfons, Cormand, Bru
Published in Journal of the neurological sciences (15.05.2009)
Published in Journal of the neurological sciences (15.05.2009)
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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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MANUFATURA ADITIVA: REVISÃO SISTEMÁTICA DA LITERATURA / ADDITIVE MANUFACTURING: A SYSTEMATIC REVIEW
Silva, Pedro Coelho, Santandrea, Rafael Souza, Brandão, Lincoln Cardoso, Xavier, Marcos Vinício Antônio, Volpini, Victor Lattaro
Published in Brazilian Journal of Development (2020)
Published in Brazilian Journal of Development (2020)
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