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Silvia Baratta
Researcher at Carlo Besta Neurological Institute
Publications - 15
Citations - 535
Silvia Baratta is an academic researcher from Carlo Besta Neurological Institute. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 8, co-authored 12 publications receiving 448 citations.
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Journal ArticleDOI
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella,Federico Lazzaro,Alfredo Brusco,Massimo Plumari,Giorgio Battaglia,Annalisa Pastore,Adele Finardi,Claudia Cagnoli,Filippo Tempia,Marina Frontali,Liana Veneziano,Tiziana Sacco,Enrica Boda,Alessandro Brussino,Florian Bonn,Barbara Castellotti,Silvia Baratta,Caterina Mariotti,Cinzia Gellera,Valentina Fracasso,Stefania Magri,Thomas Langer,Paolo Plevani,Stefano Di Donato,Marco Muzi-Falconi,Franco Taroni +25 more
TL;DR: This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegenersation.
Journal ArticleDOI
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Vito Iacobazzi,Federica Invernizzi,Silvia Baratta,Roser Pons,Wendy K. Chung,Barbara Garavaglia,Carlo Dionisi-Vici,Antonia Ribes,Rossella Parini,Maria Dolores Huertas,Susana Roldan,Graziantonio Lauria,Ferdinando Palmieri,Franco Taroni +13 more
TL;DR: Combined analysis of clinical, biochemical, and molecular data failed to indicate a correlation between the phenotype and the genotype of six CACT‐deficient patients from Italy, Spain, and North America who exhibited significant clinical heterogeneity.
Journal ArticleDOI
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Roser Pons,Patrizia Cavadini,Silvia Baratta,Federica Invernizzi,Eleonora Lamantea,Barbara Garavaglia,Franco Taroni +6 more
TL;DR: The phenotypic variability and the high genotypic heterogeneity of this hereditary metabolic disorder is reported.
Journal ArticleDOI
Clinical Pregenetic Screening for Stroke Monogenic Diseases: Results From Lombardia GENS Registry
Anna Bersano,Hugh S. Markus,Silvana Quaglini,Eloisa Arbustini,Silvia Lanfranconi,Giuseppe Micieli,Giorgio B. Boncoraglio,Franco Taroni,C. Gellera,Silvia Baratta,Silvana Penco,Lorena Mosca,Maurizia Grasso,Paola Carrera,Maurizio Ferrari,Cristina Cereda,Gaetano S. Grieco,Stefania Corti,Dario Ronchi,Maria Teresa Bassi,Laura Obici,Eugenio Parati,Alessando Pezzini,Maria Luisa De Lodovici,Elena Pinuccia Verrengia,Giorgio Bono,Francesca Mazucchelli,Davide Zarcone,Maria Vittoria Calloni,Patrizia Perrone,Bianca Maria Bordo,Antonio Colombo,Alessandro Padovani,Anna Cavallini,Simone Beretta,Carlo Ferrarese,Cristina Motto,Elio Agostoni,Graziella Molini,Francesco Sasanelli,Manuel Corato,Simona Marcheselli,Maria Sessa,Giancarlo Comi,Nicoletta Checcarelli,Mario Guidotti,Davide Uccellini,Erminio Capitani,Lucia Tancredi,Marco Arnaboldi,Barbara Incorvaia,Carlo Sebastiano Tadeo,Laura Fusi,Giampiero Grampa,Giampaolo Merlini,Nadia Trobia,Giacomo P. Comi,Massimiliano Braga,Paolo Vitali,Pierluigi Baron,Caspar Grond-Ginsbach,Livia Candelise +61 more
TL;DR: In patients prescreened using a clinical algorithm for monogenic disorders, monogenic causes of events were identified in 7% of patients in comparison to the 1% to 5% prevalence reported in previous series.
Journal ArticleDOI
CADASIL: Treatment and Management Options.
Anna Bersano,Gloria Bedini,Joshua Oskam,Caterina Mariotti,Franco Taroni,Silvia Baratta,Eugenio Parati +6 more
TL;DR: Further in vivo studies as well as data aggregation and multi-centre controlled clinical trials are needed to confirm the emerging findings in order to identify evidence-based therapies for CADASIL.