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Patricia Blanco-Arias
Researcher at University of Santiago de Compostela
Publications - 15
Citations - 431
Patricia Blanco-Arias is an academic researcher from University of Santiago de Compostela. The author has contributed to research in topics: Gene & Myopathy. The author has an hindex of 11, co-authored 14 publications receiving 392 citations. Previous affiliations of Patricia Blanco-Arias include Carlos III Health Institute & University of Cambridge.
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Journal ArticleDOI
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
María García-Murias,Beatriz Quintáns,Manuel Arias,Ana I. Seixas,Pilar Cacheiro,Rosa Tarrío,Rosa Tarrío,Julio Pardo,María J. Millán,Susana Arias-Rivas,Patricia Blanco-Arias,Patricia Blanco-Arias,Dapena D,Ramón Moreira,Francisco Rodríguez-Trelles,Jorge Sequeiros,Jorge Sequeiros,Angel Carracedo,Angel Carracedo,Isabel Silveira,María Jesús Sobrido,María Jesús Sobrido +21 more
TL;DR: The detailed clinical picture is described, consisting of a late-onset, slowly progressive cerebellar syndrome with variable eye movement abnormalities and sensorineural hearing loss, and the origin of the founder mutation in Galicia is estimated to have occurred ∼1275 years ago.
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A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism
Patricia Blanco-Arias,Anja P. Einholm,Hafsa Mamsa,Carla Concheiro,Hugo Gutiérrez-de-Terán,Jesús Romero,Mads S. Toustrup-Jensen,Angel Carracedo,Angel Carracedo,Joanna C. Jen,Bente Vilsen,María-Jesús Sobrido,María-Jesús Sobrido +12 more
TL;DR: The dramatic clinical presentation and biochemical findings provide both in vivo and in vitro evidence for a crucial role of the C terminus of the alpha-subunit in the function of the Na(+)/K(+)-ATPase and a key impact of Na(+) affinity in the pathophysiology of RDP.
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A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
Saida Ortolano,Rosa Tarrío,Patricia Blanco-Arias,Patricia Blanco-Arias,Susana Teijeira,Francisco Rodríguez-Trelles,Francisco Rodríguez-Trelles,María García-Murias,Valérie Delague,Nicolas Lévy,José M. Fernández,Beatriz Quintáns,Beatriz San Millán,Angel Carracedo,Angel Carracedo,Carmen Navarro,María-Jesús Sobrido,María-Jesús Sobrido +17 more
TL;DR: Clinico-pathologic findings suggest a novel phenotype within the emerging group of hereditary myosin myopathies, which in this family presents typical characteristics of congenital fiber type disproportion in early stages and later evolves to myOSin storage myopathy.
Journal ArticleDOI
Association study of the serotoninergic system in migraine in the Spanish population.
Roser Corominas,María-Jesús Sobrido,María-Jesús Sobrido,M. Ribasés,E. Cuenca-Leon,Patricia Blanco-Arias,Patricia Blanco-Arias,Bernat Narberhaus,Manuel Roig,Rogelio Leira,J. López-González,Alfons Macaya,Bru Cormand,Bru Cormand +13 more
TL;DR: The present study supports the involvement of HTR2B and MAOA genes in the genetic predisposition to MO, while DDC might confer susceptibility to MA, and suggests a differential involvement of serotonin‐related genes inThe genetic background of MO and MA.
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The human-specific Yp11.2/Xq21.3 homology block encodes a potentially functional testis-specific TGIF-like retroposon.
TL;DR: In this paper, the authors reported the genomic structure, expression, and evolutionary conservation of a third (X-Y homologous) transcribed sequence, TGIFLX/Y (TGIF-like X/Y), mapping to this region.