Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Paolo Niccolò Doronzio"'
Autor:
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102825- (2022)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cel
Externí odkaz:
https://doaj.org/article/2f475bb91d774b3dad6f12057bae2464
Autor:
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Filomena Pirozzi, Mario Sabatelli, Marcella Zollino, Giuseppe Marangi
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102461- (2021)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive
Externí odkaz:
https://doaj.org/article/09de13cc8c8544ea972ad8fd83227b78
Autor:
Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte, Giulia Bisogni, Daniela Bernardo, Agata Katia Patanella, Emiliana Meleo, Marcella Zollino, Mario Sabatelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc0f247d360e92dc51aa916b63e853e6
https://hdl.handle.net/10807/232257
https://hdl.handle.net/10807/232257
Autor:
Paolo Niccolò Doronzio, Serena Lattante, Giuseppe Marangi, Francesco Martello, Amelia Conte, Giulia Bisogni, Daniela Bernardo, Agata Katia Patanella, Emiliana Meleo, Marcella Zollino, Mario Sabatelli
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in STMN2 gene has been proposed as risk factor for ALS. The pres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4034::c2aebc967e529efdc5a9946e95976fad
https://hdl.handle.net/11587/492107
https://hdl.handle.net/11587/492107
Autor:
Paolo Niccolò, Doronzio, Serena, Lattante, Giuseppe, Marangi, Francesco, Martello, Amelia, Conte, Giulia, Bisogni, Daniela, Bernardo, Agata Katia, Patanella, Emiliana, Meleo, Marcella, Zollino, Mario, Sabatelli
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease caused by a complex interaction of genetic and environmental factors. Recently, a polymorphic intronic CA repeat in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::18d28fbe8f6c11b8c506de150edf32b3
https://pubmed.ncbi.nlm.nih.gov/35876065
https://pubmed.ncbi.nlm.nih.gov/35876065
Autor:
Amelia Conte, Marcella Zollino, Agata Katia Patanella, Giulia Bisogni, Emiliana Meleo, Paolo Niccolò Doronzio, Angela Romano, Davide Colavito, Mario Sabatelli, Elda Del Giudice, Francesco Martello, Serena Lattante, Daniela Bernardo, Giuseppe Marangi
Publikováno v:
Human Molecular Genetics. 30:65-71
In the last few years, NEK1 has been identified as a new gene related to amyotrophic lateral sclerosis (ALS). Loss-of-function variants have been mostly described, although several missense variants exist, which pathogenic relevance remains to be est
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad311c6164b36fd9e6b165c030202c2a
https://doi.org/10.1093/hmg/ddab015
https://doi.org/10.1093/hmg/ddab015
Autor:
Emanuela Scarano, Marcella Zollino, Mattia Gentile, C. Veredice, Paolo Niccolò Doronzio, Claudio Graziano, Ilaria Contaldo, Giuseppe Zampino, Giuseppe Marangi, Serena Lattante, Daniela Orteschi, Silvia Frangella, Stefania Ricciardi, Simona Amenta
Publikováno v:
Journal of Medical Genetics. 59:189-195
BackgroundKoolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in KANSL1. It was mainly described in children.MethodsA retrospective study on 9 subjects aged 19–45 years and revision
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee3ac48520471f256cb63d2a5cc808d
https://doi.org/10.1136/jmedgenet-2020-107225
https://doi.org/10.1136/jmedgenet-2020-107225
Autor:
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi
Publikováno v:
Stem cell research. 62
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca1ef518ff8c23e5510264c063edb09
https://pubmed.ncbi.nlm.nih.gov/35667216
https://pubmed.ncbi.nlm.nih.gov/35667216
Autor:
Giuseppe Marangi, Giulia Bisogni, Daniela Orteschi, Francesco Martello, Amelia Conte, Filomena Pirozzi, Paolo Niccolò Doronzio, Mario Sabatelli, Marcella Zollino, Serena Lattante
Publikováno v:
Stem Cell Research, Vol 55, Iss, Pp 102461-(2021)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9828398ef20a6ba05e985bd6bc0574b0
http://www.sciencedirect.com/science/article/pii/S1873506121003081
http://www.sciencedirect.com/science/article/pii/S1873506121003081
Autor:
Simona, Amenta, Silvia, Frangella, Giuseppe, Marangi, Serena, Lattante, Stefania, Ricciardi, Paolo Niccolò, Doronzio, Daniela, Orteschi, Chiara, Veredice, Ilaria, Contaldo, Giuseppe, Zampino, Mattia, Gentile, Emanuela, Scarano, Claudio, Graziano, Marcella, Zollino
Publikováno v:
Journal of medical genetics. 59(2)
Koolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations inA retrospective study on 9 subjects aged 19-45 years and revision of 18 literature patients, with the purpose to get insights int
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::aa1353bb729ade14fe8e82245c685a0d
https://pubmed.ncbi.nlm.nih.gov/33361104
https://pubmed.ncbi.nlm.nih.gov/33361104