V
V. Volpini
Researcher at Casa Sollievo della Sofferenza
Publications - 15
Citations - 768
V. Volpini is an academic researcher from Casa Sollievo della Sofferenza. The author has contributed to research in topics: Population & Trinucleotide repeat expansion. The author has an hindex of 10, co-authored 15 publications receiving 740 citations. Previous affiliations of V. Volpini include Spanish National Research Council & Hospital de Sant Pau.
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Journal ArticleDOI
Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.
Roser Torra,Celia Badenas,Alejandro Darnell,Carlos Nicolau,V. Volpini,Revert L,Xavier Estivill +6 more
TL;DR: Molecular analysis of autosomal-dominant polycystic kidney disease allows presymptomatic diagnosis in individuals younger than age 30, and helps in establishing prognosis, and demonstrates locus heterogeneity.
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Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms
David Genís,T. Matilla,V. Volpini,Jordi Rosell,Antonio Dávalos,Isidro Ferrer,A. Molins,Xavier Estivill +7 more
TL;DR: The clinical analysis of "at risk" patients with theSCA1 mutation showed that minor signs and symptoms begin before full clinical diagnosis, and these premonitory manifestations can herald full development of SCA1 by years.
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Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment
Nuria Lopez-Bigas,Montserrat Olivé,Raquel Rabionet,Orit Ben-David,Juan Antonio Martínez-Matos,Olga Bravo,Isabel Banchs,V. Volpini,Paolo Gasparini,Karen B. Avraham,Isidre Ferrer,Maria L. Arbonés,Xavier Estivill +12 more
TL;DR: mouse connexin 31 (Gjb3) gene expression in the cochlea and in the auditory and sciatic nerves, showing a pattern similar to that of Gjb1 (connexin 32), of which the human ortholog (GJB1) is involved in X-linked peripheral neuropathy, indicates that hearing impairment due to GJB3 mutations involves alterations in both the coChleA and the auditory nerve.
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Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria
Maria Julia Calonge,V. Volpini,Luigi Bisceglia,Ferran Rousaud,L. de Sanctis,Ercole Beccia,Leopoldo Zelante,Xavier Testar,Antonio Zorzano,Xavier Estivill +9 more
TL;DR: The data suggest that type I cystinuria is due to mutations in the SLC3A1 gene, whereas another locus is responsible for type III, which is classically considered as a multiallelic monogenic disease.
Journal Article
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion.
Antoni Barrientos,Jordi Casademont,A. Saiz,Francesc Cardellach,V. Volpini,A. Solans,E. Tolosa,Alvaro Urbano-Márquez,Xavier Estivill,Virginia Nunes +9 more
TL;DR: The presence of the deletion in the patient in a proportion higher than in her unaffected parents suggests a putative defect in a nuclear gene that acts at the mitochondrial level.