Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Margherita Stefania Rodolico"'
Autor:
Denise Cristiana Faro, Francesco Lorenzo Di Pino, Margherita Stefania Rodolico, Luca Costanzo, Valentina Losi, Luigi Di Pino, Ines Paola Monte
Publikováno v:
Genes, Vol 15, Iss 8, p 1101 (2024)
Anderson–Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often ex
Externí odkaz:
https://doaj.org/article/b5fb6b15b88445ee84620f2dfc224919
Autor:
Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Elvira Mariateresa Torrisi, Paolo Colomba, Giovanni Duro, Ines Paola Monte
Publikováno v:
Genes, Vol 14, Iss 9, p 1804 (2023)
Anderson–Fabry Disease (AFD) is a rare, systemic lysosomal storage disease triggered by mutations in the GLA gene, leading to α-galactosidase A (α-Gal A) deficiency. The disease’s X-linked inheritance leads to more severe, early-onset presentat
Externí odkaz:
https://doaj.org/article/47780ad73ac24f7abef75b58fe08d838
Autor:
Marco Angelo Monte, Massimiliano Veroux, Margherita Stefania Rodolico, Valentina Losi, Luigi Di Pino, Rita Bella, Giuseppe Lanza, Ines Paola Monte
Publikováno v:
Life, Vol 12, Iss 5, p 623 (2022)
(1) Background: As a lysosomal storage disorder, Fabry’s disease (FD) shows variable clinical manifestations. We applied our multidisciplinary approach to identify any organ damage in a sample of adult patients with different pathogenic variants. (
Externí odkaz:
https://doaj.org/article/4753985b5e7649bb9d667ff265aa7bea
Autor:
Carla Vagli, Francesco Fisicaro, Luisa Vinciguerra, Valentina Puglisi, Margherita Stefania Rodolico, Antonello Giordano, Raffaele Ferri, Giuseppe Lanza, Rita Bella
Publikováno v:
Brain Sciences, Vol 10, Iss 8, p 546 (2020)
Background: Patients with Fabry’s disease (FD) may be asymptomatic or show a spectrum of clinical manifestations, including cerebrovascular disease, mainly affecting posterior circulation. Few and conflicting studies on cerebral blood flow (CBF) ve
Externí odkaz:
https://doaj.org/article/a896d25831e2469e9c26b8b2b59b7203
Autor:
Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata, Alessandro Burlina, Alberto Burlina, Giulia Polo, Simone Scalia, Roberta Oliveri, Serafina Sciarrino, Daniele Francofonte, Riccardo Alessandro, Antonio Pisani, Giuseppe Palladino, Rosa Napoletano, Maurizio Tenuta, Daniele Masarone, Giuseppe Limongelli, Eleonora Riccio, Andrea Frustaci, Cristina Chimenti, Claudio Ferri, Federico Pieruzzi, Maurizio Pieroni, Marco Spada, Cinzia Castana, Marina Caserta, Ines Monte, Margherita Stefania Rodolico, Sandro Feriozzi, Yuri Battaglia, Luisa Amico, Maria Angela Losi, Camillo Autore, Marco Lombardi, Carmine Zoccali, Alessandra Testa, Maurizio Postorino, Renzo Mignani, Elisabetta Zachara, Antonello Giordano, Paolo Colomba
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (2018)
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X-linked, lysosomal enzymopathy due to mutations in the galactosid
Externí odkaz:
https://doaj.org/article/ffce201584f64d689a7908d067fff010
Autor:
Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Salvatore Licciardi, Ines Paola Monte
AimsHypertrophic cardiomyopathies (HCM) are caused in 30–60% of cases by mutations in cardiac sarcomere genes but can also be an expression of cardiac involvement in multi-systemic metabolic diseases, such as Anderson–Fabry disease (AFD). HCM ent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d3150c8788ff05b4cec37dc2b744085
https://hdl.handle.net/20.500.11769/552492
https://hdl.handle.net/20.500.11769/552492
Autor:
Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Salvatore Licciardi, Ines Paola Monte
Publikováno v:
European Heart Journal Supplements. 24
Background Hypertrophic Cardiomyopathy (HCM) is burdened by sudden cardiac death (SCD) risk of 0.9%/year, and is the most common cause of SCD in young adults. It is an autosomal dominant inherited disease caused by mutations in cardiac sarcomere gene
Autor:
Maria Angela Losi, Riccardo Alessandro, Maurizio Postorino, Federico Pieruzzi, Paolo Colomba, Sandro Feriozzi, Yuri Battaglia, Andrea Frustaci, Alessandra Testa, Ines Monte, Daniele Masarone, Serafina Sciarrino, Antonello Giordano, Antonio Pisani, Cinzia Castana, Carmine Zoccali, Elisabetta Zachara, Giuseppe Limongelli, Eleonora Riccio, Luisa Amico, Claudio Ferri, Alessandro P. Burlina, Renzo Mignani, Margherita Stefania Rodolico, Rosa Napoletano, Marina Caserta, Carmela Zizzo, Simone Scalia, Marco Spada, Roberta Oliveri, Giuseppe Cammarata, Marco Lombardi, Cristina Chimenti, Daniele Francofonte, Giovanni Duro, Maurizio Tenuta, Giuseppe Palladino, Alberto Burlina, Camillo Autore, Giulia Polo, Maurizio Pieroni
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (2018)
Volume 19
Issue 12
International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (2018)
Volume 19
Issue 12
Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha
galactosidase A (&alpha
Gal A). It is an X-linked, lysosomal enzymopathy due to mutations
galactosidase A (&alpha
Gal A). It is an X-linked, lysosomal enzymopathy due to mutations
Autor:
Giuseppe Lanza, Valentina Puglisi, Carla Vagli, Antonello Giordano, Raffaele Ferri, Francesco Fisicaro, Margherita Stefania Rodolico, Luisa Vinciguerra, Rita Bella
Publikováno v:
Brain sciences 10 (2020). doi:10.3390/brainsci10080546
info:cnr-pdr/source/autori:Carla Vagli; Francesco Fisicaro; Luisa Vinciguerra; Valentina Puglisi; Margherita Stefania Rodolico; Antonello Giordano; Raffaele Ferri; Giuseppe Lanza; Rita Bella/titolo:Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease/doi:10.3390%2Fbrainsci10080546/rivista:Brain sciences/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:10
Brain Sciences
Brain Sciences, Vol 10, Iss 546, p 546 (2020)
info:cnr-pdr/source/autori:Carla Vagli; Francesco Fisicaro; Luisa Vinciguerra; Valentina Puglisi; Margherita Stefania Rodolico; Antonello Giordano; Raffaele Ferri; Giuseppe Lanza; Rita Bella/titolo:Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease/doi:10.3390%2Fbrainsci10080546/rivista:Brain sciences/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:10
Brain Sciences
Brain Sciences, Vol 10, Iss 546, p 546 (2020)
Background: Patients with Fabry’s disease (FD) may be asymptomatic or show a spectrum of clinical manifestations, including cerebrovascular disease, mainly affecting posterior circulation. Few and conflicting studies on cerebral blood flow (CBF) ve
Autor:
Maurizio G. Uva, Francesco Iemolo, Paolo Colomba, Carmela Zizzo, Pasquale Fatuzzo, Antonio Pisani, Margherita Stefania Rodolico, Riccardo Alessandro, Ines Monte, Giovanni Duro, Eleonora Riccio, Giuseppe Cammarata
Publikováno v:
Gene (Amst.) 578 (2016): 100–104. doi:10.1016/j.gene.2015.12.024
info:cnr-pdr/source/autori:Zizzo, Carmela; Monte, Ines; Pisani, Antonio; Fatuzzo, Pasquale; Riccio, Eleonora; Rodolico, Margherita Stefania; Colomba, Paolo; Uva, Maurizio; Cammarata, Giuseppe; Alessandro, Riccardo; Iemolo, Francesco; Duro, Giovanni/titolo:Molecular and clinical studies in five index cases with novel mutations in the GLA gene./doi:10.1016%2Fj.gene.2015.12.024/rivista:Gene (Amst.)/anno:2016/pagina_da:100/pagina_a:104/intervallo_pagine:100–104/volume:578
info:cnr-pdr/source/autori:Zizzo, Carmela; Monte, Ines; Pisani, Antonio; Fatuzzo, Pasquale; Riccio, Eleonora; Rodolico, Margherita Stefania; Colomba, Paolo; Uva, Maurizio; Cammarata, Giuseppe; Alessandro, Riccardo; Iemolo, Francesco; Duro, Giovanni/titolo:Molecular and clinical studies in five index cases with novel mutations in the GLA gene./doi:10.1016%2Fj.gene.2015.12.024/rivista:Gene (Amst.)/anno:2016/pagina_da:100/pagina_a:104/intervallo_pagine:100–104/volume:578
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9fd6aff0c872e79310df11731cd2023
http://hdl.handle.net/10447/190001
http://hdl.handle.net/10447/190001