Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Andrea, Sabino"'
Autor:
Marco Luigetti, Francesca Vitali, Angela Romano, Maria Ausilia Sciarrone, Valeria Guglielmino, Michelangelo Ardito, Andrea Sabino, Serenella Servidei, Geny Piro, Carmine Carbone, Francesca Graziani, Rosa Lillo, Pietro Manuel Ferraro, Guido Primiano
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
Abstract Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset, progressive, multisystemic condition caused by TTR pathogenic variants. Reliable biomarkers are needed to allow early diagnosis and to monitor disease severity and progress
Externí odkaz:
https://doaj.org/article/9d4ad3a470334b5a9a72305ae28d9df3
Autor:
Marco Luigetti, Angela Romano, Valeria Guglielmino, Maria Ausilia Sciarrone, Francesca Vitali, Carmine Carbone, Geny Piro, Andrea Sabino, Nicola De Stefano, Domenico Plantone, Guido Primiano
Publikováno v:
Brain Sciences, Vol 12, Iss 12, p 1708 (2022)
Hereditary transthyretin (ATTRv) amyloidosis is a severe, progressive, and heterogeneous multisystemic condition due to mutations in the TTR gene. Although multiple aspects of its molecular pathophysiological mechanisms have been elucidated over the
Externí odkaz:
https://doaj.org/article/55b81cadfdd441bd93af2a4a19230999
Autor:
Brian O. Nieuwenhuis, Fabio Marchese, Marco Casartelli, Andrea Sabino, Sancia E. T. van der Meij, Francesca Benzoni
Publikováno v:
Remote Sensing, Vol 14, Iss 19, p 5017 (2022)
Very shallow coral reefs (
Externí odkaz:
https://doaj.org/article/d0428c43c27b458e8cae3f2666d42040
Autor:
Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei
Publikováno v:
Life, Vol 12, Iss 1, p 5 (2021)
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitoch
Externí odkaz:
https://doaj.org/article/e4549ce6c29c44c2b88235a38c798e12
Autor:
Guido, Primiano, Alessandra, Torraco, Daniela, Verrigni, Andrea, Sabino, Enrico, Bertini, Rosalba, Carrozzo, Gabriella, Silvestri, Serenella, Servidei
Publikováno v:
Neurology. Genetics. 8(4)
Topoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in theA 44-year-old woman was referred to our hospital because of ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::22cd913440250f50abcf17b0bff7737f
https://pubmed.ncbi.nlm.nih.gov/35812164
https://pubmed.ncbi.nlm.nih.gov/35812164
Autor:
Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo, Serenella Servidei
Publikováno v:
Life, Vol 12, Iss 5, p 5 (2022)
Life
Life
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitoch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d665dbbaf45ffb7e00883a7e2efae24
http://hdl.handle.net/10807/205615
http://hdl.handle.net/10807/205615
Autor:
Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei
ObjectivesTopoisomerase III alpha plays a key role in the dissolution of double Holliday junctions and is required for mitochondrial DNA (mtDNA) replication and maintenance. Sequence variants in the TOP3A gene have been associated with the Bloom synd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faa0e19924d32e017c915f47b987c112
https://hdl.handle.net/10807/213805
https://hdl.handle.net/10807/213805
Autor:
Marco Luigetti, Valeria Guglielmino, Angela Romano, Maria Ausilia Sciarrone, Francesca Vitali, Andrea Sabino, Jacopo Gervasoni, Aniello Primiano, Lavinia Santucci, Rossana Moroni, Guido Primiano
Publikováno v:
International Journal of Molecular Sciences. 23:16133
Hereditary transthyretin amyloidosis is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. ATTRv amyloidosis can present as a progressive, axonal sensory autonomic and motor neuropathy or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1080f01acd626bc6a7283b61c959ce4c
https://doi.org/10.3390/ijms232416133
https://doi.org/10.3390/ijms232416133
Autor:
Marco Luigetti, Andrea Di Paolantonio, Valeria Guglielmino, Angela Romano, Salvatore Rossi, Andrea Sabino, Serenella Servidei, Mario Sabatelli, Guido Primiano
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(4)
Hereditary transthyretin amyloidosis (ATTRv) is a treatable multisystem disorder with prevalent peripheral nervous system impairment. Besides neurophysiological measures, there are few markers to monitor disease progression. Neurofilament light chain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5164001685354eaa0319720942d26ad3
https://pubmed.ncbi.nlm.nih.gov/35094171
https://pubmed.ncbi.nlm.nih.gov/35094171
Autor:
Andrea Bergamasco, Marco Sigovini, Luigi Tosi, Andrea Sabino, Sandra Donnici, Alessandro Bergamasco
Environments along the ocean-land continuum strictly interlink to each other both in horizontal and in vertical. Most of the acting processes require investigation through a multi looking observation approach, integrating coastal oceanography, hydrog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c9d1380bd4a5425922d18f63e0675b56
https://doi.org/10.5194/egusphere-egu21-13706
https://doi.org/10.5194/egusphere-egu21-13706