Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Zacchia M"'
Autor:
Limongelli G, Iucolano S, Monda E, Elefante P, De Stasio C, Lubrano I, Caiazza M, Mazzella M, Fimiani F, Galdo M, De Marchi G, Esposito M, Rubino M, Cirillo A, Fusco A, Esposito A, Trama U, Esposito S, Scarano G, Sepe J, Andria G, Orlando V, Menditto E, Chiodini P, Campania Rare Disease, Iolascon A, Franzese A, Sanduzzi Zamparelli A, Tessitore A, Romano A, Venosa A, Nunzia Olivieri A, Bianco A, La Manna A, Cerbone AM, Spasiano A, Agnese Stanziola A, Colao A, De Bellis A, Gambale A, Toriello A, Tufano A, Ciampa A, Maria Risitano A, Pisani A, Russo A, Volpe A, De Martino B, Amato B, De Fusco C, Piscopo C, Selleri C, Tucci C, Pignata C, Cioffi D, Melis D, Pasquali D, De Brasi D, Spitaleri D, Russo D, Martellotta D, De Michele E, Varricchio E, Miraglia Del Giudice E, Coscioni E, Cimino E, Pane F, Tranfa F, Pollio F, Lonardo F, Nuzzi F, Simonelli F, Trojsi F, Habetswallner F, Valentini G, Cerbone G, Parenti G, Tedeschi G, Capasso G, Battista Rossi G, Gaglione G, Sarnelli G, Argenziano G, Bellastella G, De Michele G, Fiorentino G, Spadaro G, Scala I, Santoro L, Zeppa L, Auricchio L, Elio Adinolfi L, Alessio M, Amitrano M, Savanelli MC, Russo MG, Ferrucci MG, Carbone MT, Pellecchia MT, Salerno M, Melone M, Del Donno M, Vitale M, Triggiani M, Della Monica M, Lo Presti M, Tenuta M, Mignogna MD, Schiavulli M, Zacchia M, Brunetti-Pierri N, Iovino P, Moscato P, Iandoli R, Scarpa R, Russo R, Troisi S, Sbordone S, Perrotta S, Fecarotta S, Sampaolo S, Cicalese V.
Publikováno v:
Journal of Public Health (Oxford, England)
Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this per
Autor:
Viggiano D, Bruchfeld A, Carriazo S, de Donato A, Endlich N, Ferreira AC, Figurek A, Fouque D, Franssen CFM, Giannakou K, Goumenos D, Hoorn EJ, Nitsch D, Arduan AO, Pešić V, Rastenyté D, Soler MJ, Rroji M, Trepiccione F, Unwin RJ, Wagner CA, Wiecek A, Zacchia M, Zoccali C, Capasso G, CONNECT Action (Cognitive Decline in Nephro-Neurology European Cooperative Target).
Publikováno v:
Nephrology Dialysis Transplantation
Viggiano, Davide; Bruchfeld, Annette; Carriazo, Sol; de Donato, Antonio; Endlich, Nicole; Ferreira, Ana Carina; Figurek, Andreja; Fouque, Denis; Franssen, Casper F M; Giannakou, Konstantinos; Goumenos, Dimitrios; Hoorn, Ewout J; Nitsch, Dorothea; Ortiz, Alberto; Pešić, Vesna; Rastenyté, Daiva; Soler, Maria José; Rroji, Merita; Trepiccione, Francesco; Unwin, Robert J; ... (2021). Brain dysfunction in tubular and tubulointerstitial kidney diseases. Nephrology, dialysis, transplantation, 37(Suppl 2), ii46-ii55. Oxford University Press 10.1093/ndt/gfab276
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nephrology Dialysis Transplantation, 2021, 37 (Supplement_2), pp.ii46--ii55. ⟨10.1093/ndt/gfab276⟩
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, 37(2), ii46-ii55. Oxford University Press
Viggiano, Davide; Bruchfeld, Annette; Carriazo, Sol; de Donato, Antonio; Endlich, Nicole; Ferreira, Ana Carina; Figurek, Andreja; Fouque, Denis; Franssen, Casper F M; Giannakou, Konstantinos; Goumenos, Dimitrios; Hoorn, Ewout J; Nitsch, Dorothea; Ortiz, Alberto; Pešić, Vesna; Rastenyté, Daiva; Soler, Maria José; Rroji, Merita; Trepiccione, Francesco; Unwin, Robert J; ... (2021). Brain dysfunction in tubular and tubulointerstitial kidney diseases. Nephrology, dialysis, transplantation, 37(Suppl 2), ii46-ii55. Oxford University Press 10.1093/ndt/gfab276
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Nephrology Dialysis Transplantation, 2021, 37 (Supplement_2), pp.ii46--ii55. ⟨10.1093/ndt/gfab276⟩
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association-European Renal Association, 37(2), ii46-ii55. Oxford University Press
Funding: This article is published as part of a supplement financially supported by the COST Action CA19127-Cognitive Decline in Nephro-Neurology: European Cooperative Target (CONNECT). Kidney function has two important elements: glomerular filtratio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c45c70edb6bc7e43048ee1bcebe4f439
http://farfar.pharmacy.bg.ac.rs/bitstream/id/9401/Brain_dysfunction_in_pub_2022.pdf
http://farfar.pharmacy.bg.ac.rs/bitstream/id/9401/Brain_dysfunction_in_pub_2022.pdf
Autor:
Francesco Trepiccione, Marco Simonini, Paolo Manunta, Angela Bachi, Miriam Zacchia, Vittoria Matafora, Laura Zagato, Chiara Lanzani, Giovambattista Capasso
Publikováno v:
Journal of Nephrology. 34:739-751
Background: Hypertension is a complex disease and is the major cause of cardiovascular complications. In the vast majority of individuals, the aetiology of elevated blood pressure (BP) cannot be determined, thus impairing optimized therapies and prog
Autor:
Miriam Zacchia, Alessandra F. Perna, Mariadelina Simeoni, Francesco Trepiccione, Giovanna Capolongo, Diego Ingrosso
Publikováno v:
Kidney & Blood Pressure Research, Vol 45, Iss 3, Pp 357-362 (2020)
Kidney & Blood Pressure Research
Kidney & Blood Pressure Research
Autor:
Tamara Nikuševa Martić, Carmela Errichiello, Albertien M. van Eerde, Anniek Corveleyn, Pascale Hilbert, Rimante Cerkauskiene, Micheel van Geel, Samuela Landini, Concetta Gangemi, Miriam Zacchia, Emma Ashton, Evelien Van Hoof, Valeria Aiello, Martin C. Gregory, Elisabeth Ars, Viviana Palazzo, Constantinos Deltas, Asheeta Gupta, Laura Massella, Susie Gear, Laith Al-Rabadi, Danica Galešić Ljubanović, Louise Hopkinson, Julia Hoefele, Jens Michael Hertz, Peter H. Byers, Elizabeth Watson, Judy Savige, Agnieszka Bierzynska, Francesca Becherucci, Pavlina Plevova, Beata S. Lipska-Ziętkiewicz, Maggie Williams, Adrian Lungu, Ania Koziell, Kathleen Claes, Agne Cerkauskaite, Francesca Mari, Hendica Belge, Alessandra Renieri, Helen Storey, Hansjorg Martin Rothe, Rachel Lennon
Publikováno v:
European Journal of Human Genetics
European journal of human genetics, London : Nature Publishing Group, 2021, vol. 29, no. 8, p. 1186-1197
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1
European Journal of Human Genetics, 29(8), 1186-1197. Nature Publishing Group
European journal of human genetics, London : Nature Publishing Group, 2021, vol. 29, no. 8, p. 1186-1197
Savige, J, Storey, H, Watson, E, Hertz, J M, Deltas, C, Renieri, A, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C & Lipska-Ziętkiewicz, B S 2021, ' Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome : refining the ACMG criteria ', European Journal of Human Genetics, vol. 29, no. 8, pp. 1186-1197 . https://doi.org/10.1038/s41431-021-00858-1
European Journal of Human Genetics, 29(8), 1186-1197. Nature Publishing Group
The recent Chandos House meeting of the Alport Variant Collaborative extended the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 genes beyond the classical Alport phenotype (haematuria, renal failure; family histor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ba1d946479e3486070f5e6a820f420
https://lirias.kuleuven.be/handle/123456789/675238
https://lirias.kuleuven.be/handle/123456789/675238
Autor:
Mariadelina Simeoni, Miriam Zacchia, Davide Viggiano, Pietro Anastasio, Ida Molfino, Cristina Masella, Giovanna Capolongo
Publikováno v:
Kidney & Blood Pressure Research, Pp 1-13 (2019)
Background: Diuretic resistance is among the most challenging problems that the cardio-nephrologist must address in daily clinical practice, with a considerable burden on hospital admissions and health care costs. Indeed, loop diuretics are the first
Autor:
Marco Salvatore, Carlo Cavaliere, Pasquale Borrelli, Miriam Zacchia, Marco Aiello, Giovambattista Capasso, Luca Basso
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Kidney structural abnormalities are common features of Bardet-Biedl syndrome (BBS) patients that lead to a progressive decline in renal function. Magnetic resonance diffusion tensor imaging (DTI) provides useful information on renal microstructures b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a2af5d33b431a9eb1ab1eccb6a9d84c
http://hdl.handle.net/11591/458937
http://hdl.handle.net/11591/458937
Autor:
Margherita Ruoppolo, Miriam Zacchia, Emanuela Marchese, Giovambattista Capasso, Alessandra F. Perna
Publikováno v:
Kidney International Reports
Kidney International Reports, Vol 5, Iss 9, Pp 1403-1415 (2020)
Kidney International Reports, Vol 5, Iss 9, Pp 1403-1415 (2020)
Bardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86e1e4cc51fbf5fcff217687516288d8
http://hdl.handle.net/11591/458955
http://hdl.handle.net/11591/458955
Autor:
Margherita Ruoppolo, Giovambattista Capasso, Miriam Zacchia, Marianna Caterino, Emanuela Marchese, Elena Martina Trani, Alessandra F. Perna, Giovanna Capolongo
The primary cilium (PC) was considered as a vestigial organelle with no significant physiological importance, until the discovery that PC perturbation disturbs several signalling pathways and results in the dysfunction of a variety of organs. Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c948bd3b46cadb20d4b911a062498cb9
http://hdl.handle.net/11588/755627
http://hdl.handle.net/11588/755627
Autor:
Aldo Filosa, Amerigo Beneduci, Giuseppina De Luca, Giovanna Capolongo, Patrizia Cinque, Miriam Zacchia, Giovambattista Capasso, Francesco Trepiccione, Silvia Costantini, Anna Spasiano, Maria Enrica Di Pietro, Paolo Ricchi
Publikováno v:
Kidney & Blood Pressure Research, Vol 45, Iss 3, Pp 455-466 (2020)
Introduction: Renal dysfunction is a frequent complication in patients suffering from β-thalassemia major (β-TM). The aim of this study was to analyze the renal function and urine metabolomic profile of β-TM patients undergoing transfusions and de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a58a56ea33348101048d6b118337426
http://hdl.handle.net/11591/435720
http://hdl.handle.net/11591/435720