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Barbara Tappino
Researcher at Istituto Giannina Gaslini
Publications - 17
Citations - 465
Barbara Tappino is an academic researcher from Istituto Giannina Gaslini. The author has contributed to research in topics: Mutation & Frameshift mutation. The author has an hindex of 10, co-authored 14 publications receiving 404 citations.
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Journal ArticleDOI
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
Barbara Tappino,Roberta Biancheri,Matthew Mort,Stefano Regis,Fabio Corsolini,Andrea Rossi,Marina Stroppiano,Susanna Lualdi,Agata Fiumara,Bruno Bembi,Maja Di Rocco,David Neil Cooper,Mirella Filocamo +12 more
TL;DR: This study, reporting one of the largest genotype‐phenotype analyses of the GALC gene so far performed in a European Krabbe disease cohort, revealed that the Italian G ALC mutational profile differs significantly from other populations of European origin.
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Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis
Michela Donnarumma,Stefano Regis,Barbara Tappino,Camillo Rosano,Stefania Assereto,Fabio Corsolini,Maja Di Rocco,Mirella Filocamo +7 more
TL;DR: Molecular characterization of twelve unrelated patients affected by the autosomal recessive osteosclerotic skeletal dysplasia, Pycnodysostosis, revealed 11 different genotypes, including nine previously unreported ones, spread throughout the whole gene.
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Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian Patients: Identification and structural modeling of novel mutations
Tatiana Fancello,Andrea Dardis,Camillo Rosano,Patrizia Tarugi,Barbara Tappino,Stefania Zampieri,Elisa Pinotti,Fabio Corsolini,Simona Fecarotta,Adele D'Amico,Maja Di Rocco,Graziella Uziel,Sebastiano Calandra,Bruno Bembi,Mirella Filocamo +14 more
TL;DR: A new intronic c.464-2A>C change at the 3′ acceptor splice site of intron 4 affected NPC1 messenger RNA processing and a new NPC2 mutant caused by a change of the first codon was found.
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Molecular characterization of 22 novel UDP‐N‐acetylglucosamine‐1‐phosphate transferase α‐ and β‐subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients
Barbara Tappino,Nadia Chuzhanova,Stefano Regis,Andrea Dardis,Fabio Corsolini,Marina Stroppiano,Emmanuel Tonoli,Tommaso Beccari,Camillo Rosano,Ján Mucha,Mariana Blanco,Marina Szlago,Maja Di Rocco,David Neil Cooper,Mirella Filocamo +14 more
TL;DR: A novel exonic SNP (c.303G>A; E101E) was identified which is predicted to create an SFRS1 (SF2/ASF) binding site that may be of potential functional/clinical relevance.
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Cell Line and DNA Biobank From Patients Affected by Genetic Diseases
Mirella Filocamo,Raffaella Mazzotti,Fabio Corsolini,Marina Stroppiano,Giorgia Stroppiana,Serena Grossi,Susanna Lualdi,Barbara Tappino,Federica Lanza,Sara Galotto,Roberta Biancheri +10 more
TL;DR: The Bioresource, presently storing 10,279 biospecimens, was initially established in 1976 as a private laboratory-collection to maintain rare mutant cell lines from genetic-metabolic diseases.