Speckle Tracking Echocardiography- derived parameters as new prognostic markers in Hypertrophic Cardiomyopathies

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

Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry’s Disease

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

Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry’s Disease

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)

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::df46383da63485c6c94475ea9c229f34
https://doi.org/10.3390/brainsci10080546

Molecular and clinical studies in five index cases with novel mutations in the GLA gene

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

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

Early cardiovascular remodelling in Fabry disease

Autor: Sergio Buccheri, Giuseppina Curatolo, Luca Costanzo, Piera Capranzano, Margherita Stefania Rodolico, Ines Monte, Corrado Tamburino, Anita Blundo, Stefano Leggio, Luigi Di Pino

Publikováno v: Journal of inherited metabolic disease (Dordr., Online) 37 (2014): 109–116. doi:10.1007/s10545-013-9607-1
info:cnr-pdr/source/autori:Costanzo L.; Buccheri S.; Capranzano P.; Di Pino L.; Curatolo G.; Rodolico M.; Leggio S.; Blundo A.; Tamburino C.; Monte I./titolo:Early cardiovascular remodelling in Fabry disease/doi:10.1007%2Fs10545-013-9607-1/rivista:Journal of inherited metabolic disease (Dordr., Online)/anno:2014/pagina_da:109/pagina_a:116/intervallo_pagine:109–116/volume:37
Europe PubMed Central

Aims: Fabry disease (FD) is a rare X-linked genetic disorder caused by the deficiency or absent activity of lysosomal ?-galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f2508532dea09174a7c0b2802b6a3cb
http://www.scopus.com/inward/record.url?eid=2-s2.0-84891831148&partnerID=q2rCbXpz