Zobrazeno 1 - 10
of 154
pro vyhledávání: '"Raffaella, Lombardi"'
Autor:
Grazia Canciello, Stefano Tozza, Gaetano Todde, Maria Nolano, Felice Borrelli, Giovanni Palumbo, Raffaella Lombardi, Emanuele Cassano, Wanda Acampa, Giovanni Esposito, Fiore Manganelli, Maria Angela Losi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of cardiac involvement
Externí odkaz:
https://doaj.org/article/e0f914ae77504a098b92706b57c4566b
Autor:
Gaetano Todde, Lorenzo Lupo Dei, Roberto Polizzi, Domenico Gabrielli, Grazia Canciello, Silvio Romano, Felice Borrelli, Geza Halasz, Leopoldo Ordine, Salvatore Di Napoli, Daniela Pacella, Raffaella Lombardi, Giovanni Esposito, Federica Re, Maria-Angela Losi
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
BackgroundIn obstructive hypertrophic cardiomyopathy (HOCM), disopyramide is used in patients who remain symptomatic despite β-blockers or verapamil. However, effectiveness of disopyramide therapy has not been clearly established due to inconsistent
Externí odkaz:
https://doaj.org/article/d69e4b7fe26d4aa7aa040b1585ee1fa9
Autor:
Felice Borrelli, Maria Angela Losi, Grazia Canciello, Gaetano Todde, Errico Federico Perillo, Leopoldo Ordine, Giulia Frisso, Giovanni Esposito, Raffaella Lombardi
Publikováno v:
Cardiogenetics, Vol 13, Iss 2, Pp 92-105 (2023)
Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder and is characterized by left ventricular hypertrophy (LVH), which is unexplained by abnormal loading conditions. HCM is inherited as an autosomal dominant trait an
Externí odkaz:
https://doaj.org/article/0ed62e53988e47c38a11c6230fe7a460
Autor:
Gaetano Todde, Grazia Canciello, Felice Borrelli, Errico Federico Perillo, Giovanni Esposito, Raffaella Lombardi, Maria Angela Losi
Publikováno v:
Cardiogenetics, Vol 13, Iss 2, Pp 75-91 (2023)
Left ventricular outflow obstruction (LVOTO) and diastolic dysfunction are the main pathophysiological characteristics of hypertrophic cardiomyopathy (HCM)LVOTO, may be identified in more than half of HCM patients and represents an important determin
Externí odkaz:
https://doaj.org/article/3e0e9ddce62e458b95a5cc898f1a3668
Autor:
Mirna Andelic, Margherita Marchi, Stefania Marcuzzo, Raffaella Lombardi, Catharina G. Faber, Giuseppe Lauria, Erika Salvi
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101116- (2023)
Archived specimens, taken by standardized procedures in clinical practice, represent a valuable resource in translational medicine. Their use in retrospective molecular-based studies could provide disease and therapy predictors. Microfluidic array is
Externí odkaz:
https://doaj.org/article/61ea216ce05444ac8769e14814f332d8
Autor:
Shanshan Gao, Lingaonan He, Chi Keung Lam, Matthew R. G. Taylor, Luisa Mestroni, Raffaella Lombardi, Suet Nee Chen
Publikováno v:
Cells, Vol 13, Iss 3, p 278 (2024)
Truncating mutations in filamin C (FLNC) are associated with dilated cardiomyopathy and arrhythmogenic cardiomyopathy. FLNC is an actin-binding protein and is known to interact with transmembrane and structural proteins; hence, the ablation of FLNC i
Externí odkaz:
https://doaj.org/article/c2db8f66f7884a4a917fd613fb1c9724
Autor:
Errico Federico Perillo, Grazia Canciello, Felice Borrelli, Gaetano Todde, Massimo Imbriaco, Leopoldo Ordine, Salvatore Di Napoli, Raffaella Lombardi, Giovanni Esposito, Maria-Angela Losi
Publikováno v:
Diagnostics, Vol 13, Iss 11, p 1848 (2023)
Hypertrophic cardiomyopathy (HCM) is a genetic disease with heterogeneous clinical presentation and prognosis. Within the broad phenotypic expression of HCM, there is a subgroup of patients with a left ventricular (LV) apical aneurysm, which has an e
Externí odkaz:
https://doaj.org/article/24bf2db6827e44a1b15ffd8a38c44544
Autor:
Annalisa Canta, Valentina A. Carozzi, Alessia Chiorazzi, Cristina Meregalli, Norberto Oggioni, Virginia Rodriguez-Menendez, Barbara Sala, Roberto Cosimo Melcangi, Silvia Giatti, Raffaella Lombardi, Roberto Bianchi, Paola Marmiroli, Guido Cavaletti
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 20 (2022)
The development and progression of diabetic polyneuropathy (DPN) are due to multiple mechanisms. The creation of reliable animal models of DPN has been challenging and this issue has not yet been solved. However, despite some recognized differences f
Externí odkaz:
https://doaj.org/article/ec87261e47de49bb82f8702a24ce30f2
Autor:
Cristina Mazzaccara, Raffaella Lombardi, Bruno Mirra, Ferdinando Barretta, Maria Valeria Esposito, Fabiana Uomo, Martina Caiazza, Emanuele Monda, Maria Angela Losi, Giuseppe Limongelli, Valeria D’Argenio, Giulia Frisso
Publikováno v:
Biomolecules, Vol 12, Iss 10, p 1417 (2022)
The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotyp
Externí odkaz:
https://doaj.org/article/c9575d525a64435f9e038ccee7a98c5b
Autor:
Jordi Coste Pradas, Gaelle Auguste, Scot J. Matkovich, Raffaella Lombardi, Suet Nee Chen, Tyrone Garnett, Kyle Chamberlain, Jalish Mahmud Riyad, Thomas Weber, Sanjay K. Singh, Matthew J. Robertson, Cristian Coarfa, Ali J. Marian, Priyatansh Gurha
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 16 (2020)
Background Mutations in the LMNA gene, encoding LMNA (lamin A/C), causes distinct disorders, including dilated cardiomyopathies, collectively referred to as laminopathies. The genes (coding and noncoding) and regulatory pathways controlled by LMNA in
Externí odkaz:
https://doaj.org/article/30a260c5a89642f9bc7832cd03058595