Publications by authors named "Victor Volpini"

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Late-onset vestibulocerebellar ataxia: clinical and genetic studies in a long follow-up series of 50 patients.
David Genís, Berta Alemany, David Pellerin, Bernard Brais, Marie-Josée Dicaire, Víctor Volpini

J Neurol· March 2025

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New spinocerebellar ataxia subtype caused by mutation triggering mitochondrial dysregulation (SCA49).
Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steve Laurie, Alicia Martinez-Piñeiro, Victor Volpini

Brain Commun· February 2022

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Correction to: Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.
Eva López, Carlos Casasnovas, Javier Giménez, Antoni Matilla-Dueñas, Ivelisse Sánchez, Víctor Volpini

Neurogenetics· January 2022

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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.
José Sánchez-Corona, Sergio Alberto Ramirez-Garcia, Gema Castañeda-Cisneros, Susan Andrea Gutiérrez-Rubio, Víctor Volpini

Genet Mol Biol· August 2020

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Heterozygous mutation causes familial ataxia with cognitive affective syndrome (SCA48).
David Genis, Sara Ortega-Cubero, Hector San Nicolás, Jordi Corral, Josep Gardenyes, Víctor Volpini

Neurology· November 2018

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Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37.
Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Victor Volpini

Brain· July 2018

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Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Víctor Volpini

Adv Exp Med Biol· June 2018

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Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.
Cèlia Sintas, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Marta Vila-Pueyo, Víctor Volpini

Sci Rep· May 2017

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Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.
Eva López, Carlos Casasnovas, Javier Giménez, Raúl Santamaría, Jesús M Terrazas, Víctor Volpini

J Neurol Sci· November 2015

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Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.
Eva López, Carlos Casasnovas, Javier Giménez, Antoni Matilla-Dueñas, Ivelisse Sánchez, Víctor Volpini

Neurogenetics· April 2015

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Spinocerebellar ataxia type 2 in The Gambia: A case report.
Luis E Almaguer-Mederos, Louise Sarr, Jorge Vega Abascal, Raúl Aguilera-Rodríquez, Maydelis Avíla Martín, Victor Volpini

J Neurol Sci· February 2015

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First case with Huntington's disease in The Gambia.
Luis E Almaguer-Mederos, Jorge Vega Abascal, Asmell Ramos Cabrera, Fátima García Quilez, Pablo Betancourt Álvarez, Victor Volpini

J Neurol Sci· March 2014

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Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.
Berta Campos, Judith Balmaña, Josep Gardenyes, Irene Valenzuela, Oscar Abad, Víctor Volpini

Breast Cancer Res Treat· June 2013

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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Carmen Serrano-Munuera, Marc Corral-Juan, Giovanni Stevanin, Hector San Nicolás, Carles Roig, Victor Volpini

JAMA Neurol· June 2013

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Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
Ana L Pelayo-Negro, Coro Sánchez-Quintana, Maria C Rodríguez-Oroz, Victor Volpini, Massimo Zeviani

Mov Disord· September 2012

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The spinocerebellar ataxias: clinical aspects and molecular genetics.
Antoni Matilla-Dueñas, Marc Corral-Juan, Victor Volpini, Ivelisse Sanchez

Adv Exp Med Biol· April 2012

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A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.
Carlos Casasnovas, Isabel Banchs, Laura De Jorge, Maria Antónia Albertí, Yolanda Martínez-Campo, Victor Volpini

Muscle Nerve· January 2012

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Genotype of an individual single nucleotide polymorphism regulates DNA methylation at the TRPC3 alternative promoter.
Alex Martin-Trujillo, Isabel Iglesias-Platas, Eliecer Coto, Marc Corral-Juan, Hector San Nicolás, Victor Volpini

Epigenetics· October 2011

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EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
Jorge Sequeiros, Joanne Martindale, Sara Seneca, Paola Giunti, Outi Kämäräinen, Victor Volpini

Eur J Hum Genet· November 2010

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Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
Isabel Banchs, Carlos Casasnovas, Jordi Montero, Victor Volpini, Juan Antonio Martínez-Matos

Muscle Nerve· August 2010

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Camptocormia associated with an expanded allele in the TATA box-binding protein gene.
Josep Gamez, Alba Sierra-Marcos, Margarita Gratacós, Laurade Jorge, Nuria Raguer, Victor Volpini

Mov Disord· July 2010

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Diagnosis of Charcot-Marie-Tooth disease.
Isabel Banchs, Carlos Casasnovas, Antonia Albertí, Laura De Jorge, Mónica Povedano, Victor Volpini

J Biomed Biotechnol· December 2009

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Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.
Ester Cuenca-León, Isabel Banchs, Selma A Serra, Pilar Latorre, Noèlia Fernàndez-Castillo, Víctor Volpini

J Neurol Sci· May 2009

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Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study.
Jose Perez de los Cobos, Montserrat Baiget, Joan Trujols, Nuria Sinol, Victor Volpini

Behav Brain Funct· June 2007

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