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Renzo Mignani

Showing results (31-40 of 63) with videos related to

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Molecular Genetics & Genomic Medicine|June 19, 2024
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variantIrene Capelli, Roberta Di Costanzo, Valeria Aiello, et al.
Clinical Kidney Journal|October 30, 2020
Erratum: New insights from the application of the FAbry STabilization indEX in a large population of Fabry casesRenzo Mignani, Maurizio Pieroni, Antonio Pisani, et al.
International Journal of Molecular Sciences|January 10, 2026
Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry NephropathyAmedeo Grimaldi, Alessandra Auletta, Francesca Ciurli, et al.
Frontiers in Cardiovascular Medicine|March 27, 2025
Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needsAntonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 23, 2009
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry RegistryAlberto Ortiz, Bruno Cianciaruso, Marta Cizmarik, et al.
Journal of Nephrology|November 10, 2021
IgA nephropathy and atypical hemolytic uremic syndrome: a case series and a literature reviewLucio Manenti, Giovanni Maria Rossi, Isabella Pisani, et al.
Transplantation Proceedings|May 14, 2020
Observational Retrospective Study on Patient Lifestyle in the Pretransplantation and Post-transplantation Period in the Emilia-Romagna RegionValentina Totti, Tiziana Campione, Giovanni Mosconi, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotypeRenzo Mignani, Gian Marco Berti, Gisella Vischini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJLorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
Pageof 7

Showing results (31-40 of 63) with videos related to

Sort By:
Pageof 7
Molecular Genetics & Genomic Medicine|June 19, 2024
No evidence of Fabry disease in a patient with the new p.Met70Val GLA gene variantIrene Capelli, Roberta Di Costanzo, Valeria Aiello, et al.
Clinical Kidney Journal|October 30, 2020
Erratum: New insights from the application of the FAbry STabilization indEX in a large population of Fabry casesRenzo Mignani, Maurizio Pieroni, Antonio Pisani, et al.
International Journal of Molecular Sciences|January 10, 2026
Coexistence of Alport Syndrome and Fabry Disease in a Female with R112H Variant: Early Progression of Fabry NephropathyAmedeo Grimaldi, Alessandra Auletta, Francesca Ciurli, et al.
Frontiers in Cardiovascular Medicine|March 27, 2025
Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needsAntonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, et al.
European Journal of Human Genetics : EJHG|June 19, 2008
Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry diseaseCamilla Filoni, Anna Caciotti, Laura Carraresi, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 23, 2009
End-stage renal disease in patients with Fabry disease: natural history data from the Fabry RegistryAlberto Ortiz, Bruno Cianciaruso, Marta Cizmarik, et al.
Journal of Nephrology|November 10, 2021
IgA nephropathy and atypical hemolytic uremic syndrome: a case series and a literature reviewLucio Manenti, Giovanni Maria Rossi, Isabella Pisani, et al.
Transplantation Proceedings|May 14, 2020
Observational Retrospective Study on Patient Lifestyle in the Pretransplantation and Post-transplantation Period in the Emilia-Romagna RegionValentina Totti, Tiziana Campione, Giovanni Mosconi, et al.
Orphanet Journal of Rare Diseases|September 2, 2025
Functional and histopathologic correlation in the fabry nephropathy with N215S genotypeRenzo Mignani, Gian Marco Berti, Gisella Vischini, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|February 25, 2018
Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJLorenzo Ferri, Duccio Malesci, Antonella Fioravanti, et al.
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