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QUALTIERI, ANTONIO

QUALTIERI, ANTONIO  

Istituto per la Ricerca e l'Innovazione Biomedica -IRIB  

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Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1-gen-2024 Citrigno, Luigi; Qualtieri, Antonio; Cerantonio, Annamaria; De Benedittis, Selene; Gallo, Olivier; Di Palma, Gemma; Spadafora, Patrizia; Cavalcanti, Francesca
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies 1-gen-2024 Luigi Citrigno; Antonio Qualtieri; Annamaria Cerantonio; Selene De Benedittis; Olivier Gallo; Gemma Di Palma; Patrizia Spadafora; Francesca Cavalcanti
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions 1-gen-2024 Cerantonio, A.; Citrigno, L.; Greco, B. M.; De Benedittis, S.; Passarino, G.; Maletta, R.; Qualtieri, A.; Montesanto, A.; Spadafora, P.; Cavalcanti, F.
A new mutation detected by NGS in MT-ATP6 gene associated with MELAS and in silico 3D protein analysis 1-gen-2023 Cavalcanti, Francesca; Citrigno, Luigi; Spadafora, Patrizia; DE BENEDITTIS, Selene; Gallo, Olivier; DI PALMA, Gemma; Qualtieri, Antonio
HOMOZYGOUS R596G VARIANT IN TRIM32 GENE RELATED TO LGMD IN A NON-HUTTERITE PATIENT 1-gen-2023 Patrizia Spadafora; Luigi Citrigno; Selene De Benedittis; Antonio Qualtieri; Francesca Cavalcanti; Gemma Di Palma; Olivier Gallo; Nelide Romeo
Identificato in un paziente del Sud Italia la variante Arg596Gly in omozigosi associata a Distrofia Muscolare dei Cingoli recessiva di tipo 8 1-gen-2023 Luigi Citrigno; Antonio Qualtieri; Francesca Cavalcanti; Selene De Benedittis; Gemma Di Palma; Olivier Gallo; Patrizia Spadafora
MALDI-ISD mass spectrometry analysis as a simple and reliable tool to detect post-translational modifications of hemoglobin variants: the case of Hb Raleigh 1-gen-2023 DE BENEDITTIS, Selene; Spadafora, Patrizia; Gaspari, Marco; I, Gabriele Qualtier; Gallo, Olivier; DI PALMA, Gemma; Cavalcanti, Francesca; Citrigno, Luigi; Qualtieri, Antonio
A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B 1-gen-2022 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; DI PALMA, Gemma; Gallo, Olivier; DE BENEDITTIS, Selene; Cerantonio, Annamaria; Citrigno, Luigi
Arg143Ser is the most frequent variant in Limb Girdle Muscular Dystrophy-R9 in southern Italy 1-gen-2022 Patrizia Spadafora; Luigi Citrigno; Francesca Cavalcanti; Gemma Di Palma, Olivier Gallo; Antonio Qualtieri
Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes 1-gen-2022 Elisabetta Ferraroli; Marco Perulli; Chiara Veredice; Ilaria Contaldo; Michela Quintiliani; Martina Ricci; Ilaria Venezia; Luigi Citrigno; Antonio Qualtieri; Patrizia Spadafora; Francesca Cavalcanti; Domenica Immacolata Battaglia
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 1-gen-2022 Cavalcanti, Francesca; Ferraroli, Elisabetta; Perulli, Marco; Veredice, Chiara; Contaldo, Ilaria; Quintiliani, Michela; Ricci, Martina; Venezia, Ilaria; Citrigno, Luigi; Qualtieri, Antonio; Spadafora, Patrizia; Immacolata Battaglia, Domenica
Targeted next-generation sequencing revealed a new mutation in GLRA1 gene in a family with Hereditary Hyperekplexia 1-gen-2022 Cavalcanti, Francesca; Ferraroli, Elisabetta; Perulli, Marco; Veredice, Chiara; Contaldo, Ilaria; Quintiliani, Michela; Ricci, Martina; Venezia, Ilaria; Citrigno, Luigi; Qualtieri, Antonio; Spadafora, Patrizia; Immacolata Battaglia, Domenica
A NEW CYS1678TYR MUTATION RESPONSIBLE OF LGMD2B IDENTIFIED IN A FAMILY FROM SOUTHERN ITALY 1-gen-2021 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; Lanza, Pierluigi; Gallo, Olivier; DI PALMA, Gemma; Citrigno, Luigi
Biocompatible and biomimetic keratin capped Au nanoparticles enable the inactivation of mesophilic bacteria via photo-thermal therapy 1-gen-2021 Ferdinanda Annesi; Alfredo Pane; Luigia Pezzi; Pasquale Pagliusi;Maria Adele Losso; Barbara Stamile; Antonio Qualtieri; Giovanni Desiderio;Marco Contardi; Athanassia Athanassiou; Giovanni Perotto; Luciano De Sio.
Genomic analysis identifies a new EIF2B3 gene variant detected in an uncertain case of CADASIL disease 1-gen-2021 A Cerantonio; S De Benedittis; PL Lanza; M Muglia; F Cavalcanti; P Spadafora; N Romeo; O Gallo; G Di Palma; R Mazzei; A Qualtieri; L Citrigno;
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner. 1-gen-2021 Cavalcanti, Francesca; Spadafora, Patrizia; Qualtieri, Antonio; Citrigno, Luigi; Gallo, Olivier; Dipalma, Gemma; Nethisinghe, Suran; Kesavan, Maheswaran; Ging, Heather; Labrum, Robyn; M Polke, James; Islam, Saiful; Garciamoreno, Hector; F Callaghan, Martina; A Pook, Mark; Giunti, Paola
LC-MALDI-TOF ISD MS analysis is an effective, simple and rapid method of investigation for histones characterization: Application to EBV lymphoblastoid cell lines 1-gen-2021 DE BENEDITTIS, Selene; Gaspari, Marco; Magariello, Angela; Spadafora, Patrizia; Citrigno, Luigi; Romeo, Nelide; Qualtieri, Antonio
The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives 1-gen-2020 Luigi Citrigno; Maria Muglia; Antonio Qualtieri; Patrizia Spadafora; Francesca Cavalcanti; Giovanni Pioggia; Antonio Cerasa
Actively Targeted and Redox Responsive Delivery of Anticancer Drug by Chitosan Nanoparticles 1-gen-2019 Elisabetta Mazzotta; Selene De Benedittis; Antonio Qualtieri; Rita Muzzalupo;
Characterization of N-terminal acetylated Hb Raleigh by a MALDI-ISD approach 1-gen-2019 Selene De Benedittis; Gabriele Qualtieri; Patrizia Spadafora; Nelide Romeo; Annamaria Cerantonio; Antonio Qualtieri;