SPADAFORA, PATRIZIA
SPADAFORA, PATRIZIA
Istituto per la Ricerca e l'Innovazione Biomedica -IRIB
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies
2024 Luigi Citrigno; Antonio Qualtieri; Annamaria Cerantonio; Selene De Benedittis; Olivier Gallo; Gemma Di Palma; Patrizia Spadafora; Francesca Cavalcanti
Genomics landscape of mitochondrial DNA variations in patients from South Italy affected by mitochondriopathies
2024 Citrigno, Luigi; Qualtieri, Antonio; Cerantonio, Annamaria; De Benedittis, Selene; Gallo, Olivier; Di Palma, Gemma; Spadafora, Patrizia; Cavalcanti, Francesca
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions
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
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
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
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
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
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
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
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
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
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
2021 Spadafora, Patrizia; Qualtieri, Antonio; Cavalcanti, Francesca; Lanza, Pierluigi; Gallo, Olivier; DI PALMA, Gemma; Citrigno, Luigi
Interruptions of the FXN GAA repeat tract delay the age at onset of Friedreich's ataxia in a location dependent manner.
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
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
2020 Luigi Citrigno; Maria Muglia; Antonio Qualtieri; Patrizia Spadafora; Francesca Cavalcanti; Giovanni Pioggia; Antonio Cerasa
Characterization of N-terminal acetylated Hb Raleigh by a MALDI-ISD approach
2019 Selene De Benedittis; Gabriele Qualtieri; Patrizia Spadafora; Nelide Romeo; Annamaria Cerantonio; Antonio Qualtieri;
EBV immortalized human lymphoblastoid cell lines as a source for iPSCs generation by nucleofection
2019 DE BENEDITTIS, Selene; Spadafora, Patrizia; Cerantonio, Annamaria; Citrigno, Luigi; Romeo, Nelide; Qualtieri, Antonio
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach
2019 Citrigno, L; LA COGNATA, Valentina; Spadafora, P; Qualtieri, A; Romeo, N; De Benedittis, S; Cerantonio, A; Muglia, M; Bellofatto, M; Criscuolo, C; De Rosa, A; De Michele, G; Cavalcanti, F
Hemoglobin Raleigh in Southern Italy: a characterization with a pseudo MS3 approach of a post translational modified hemoglobin
2019 DE BENEDITTIS, Selene; Qualtieri, Gabriele; Spadafora, Patrizia; Romeo, Nelide; Cerantonio, Annamaria; Qualtieri, Antonio
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
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 | |
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 | |
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 | |
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; | |
EBV immortalized human lymphoblastoid cell lines as a source for iPSCs generation by nucleofection | 1-gen-2019 | DE BENEDITTIS, Selene; Spadafora, Patrizia; Cerantonio, Annamaria; Citrigno, Luigi; Romeo, Nelide; Qualtieri, Antonio | |
Fast and accurate SNVs and CNVs screening in Parkinson's Disease patients using Next-Generation approach | 1-gen-2019 | Citrigno, L; LA COGNATA, Valentina; Spadafora, P; Qualtieri, A; Romeo, N; De Benedittis, S; Cerantonio, A; Muglia, M; Bellofatto, M; Criscuolo, C; De Rosa, A; De Michele, G; Cavalcanti, F | |
Hemoglobin Raleigh in Southern Italy: a characterization with a pseudo MS3 approach of a post translational modified hemoglobin | 1-gen-2019 | DE BENEDITTIS, Selene; Qualtieri, Gabriele; Spadafora, Patrizia; Romeo, Nelide; Cerantonio, Annamaria; Qualtieri, Antonio |