Zobrazeno 1 - 10
of 167
pro vyhledávání: '"Anna Mazzeo"'
Autor:
Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and
Externí odkaz:
https://doaj.org/article/f0832100674d4cab8c8856c8ba65b280
Autor:
Luca Gentile, Igor Diemberger, Violaine Plante-Bordeneuve, Anna Mazzeo, Amir Dori, Marco Luigetti, Andrea Di Paolantonio, Angela Dispenzieri, Martha Grogan, Márcia Waddington Cruz, David Adams, Jocelyn Inamo, Arnt V Kristen, Calogero Lino Cirami, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass
Publikováno v:
PLoS ONE, Vol 19, Iss 1, p e0292435 (2024)
Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multi-systemic disease with wild-type (ATTRwt) and hereditary (ATTRv) forms. Over 130 variants associated with ATTRv amyloidosis have been identified, although little is known about the m
Externí odkaz:
https://doaj.org/article/b4835a69d68c421cbbe3db9d170e24ee
Autor:
Stefano Tozza, Marco Luigetti, Giovanni Antonini, Anna Mazzeo, Daniele Severi, Andrea Di Paolantonio, Luca Leonardi, Massimo Russo, Angela Romano, Francesca Forcina, Luca Gentile, Maria Nolano, Consalvo Mattia, Fiore Manganelli
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
IntroductionPain is a common symptom of hereditary transthyretin amyloidosis (ATTRv), however, its occurrence in late-onset ATTRv has not been investigated thoroughly. Our aim was to describe the pain experience and its impact on quality of life (QoL
Externí odkaz:
https://doaj.org/article/fc9a2d01a08646199d7f8e3d575db67a
Autor:
Vincenzo Di Stefano, Francesco Prinzi, Marco Luigetti, Massimo Russo, Stefano Tozza, Paolo Alonge, Angela Romano, Maria Ausilia Sciarrone, Francesca Vitali, Anna Mazzeo, Luca Gentile, Giovanni Palumbo, Fiore Manganelli, Salvatore Vitabile, Filippo Brighina
Publikováno v:
Brain Sciences, Vol 13, Iss 5, p 805 (2023)
Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is an adult-onset multisystemic disease, affecting the peripheral nerves, heart, gastrointestinal tract, eyes, and kidneys. Nowadays, several treatment options are available
Externí odkaz:
https://doaj.org/article/e9cc753b2643469b8cf6c843b9a8d648
Autor:
Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli, Giovanni Antonini, Marina Grandis, Gian Maria Fabrizi, Mario Sabatelli, Davide Pareyson, Federico Perfetto, Giampaolo Merlini, Giuseppe Vita, ATTRv Collaborators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s fun
Externí odkaz:
https://doaj.org/article/ec614e801b3a4556b8a4dca986e3adab
Autor:
Luca Gentile, Massimo Russo, Carmelo Rodolico, Ilenia Arimatea, Giuseppe Vita, Antonio Toscano, Anna Mazzeo
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture
Externí odkaz:
https://doaj.org/article/949207f73311409782fe52dc677986fd
Autor:
Alessandro Allegra, Vincenzo Rizzo, Vanessa Innao, Angela Alibrandi, Anna Mazzeo, Rossana Leanza, Carmen Terranova, Luca Gentile, Paolo Girlanda, Andrea Gaetano Allegra, Andrea Alonci, Caterina Musolino
Publikováno v:
Archives of Medical Science, Vol 18, Iss 3, Pp 696-703 (2021)
Introduction In the past few years, treatment of multiple myeloma has undergone a deep change for the employment of novel treatment comprising proteasome inhibitors. Bortezomib is a first-line drug in therapy of multiple myeloma. The onset of periphe
Externí odkaz:
https://doaj.org/article/4ae474683a144f25b8f74c7cf877c99c
Autor:
Luca Gentile, Massimo Russo, Federica Taioli, Moreno Ferrarini, M’Hammed Aguennouz, Carmelo Rodolico, Antonio Toscano, Gian Maria Fabrizi, Anna Mazzeo
Publikováno v:
Brain Sciences, Vol 11, Iss 12, p 1616 (2021)
(1) Background: Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited chronic motor and sensory polyneuropathy. Over 100 CMT causative genes have been identified. Previous reports found PMP22, GJB1, MPZ, and MFN2 as the most fr
Externí odkaz:
https://doaj.org/article/65bf89a6894048aab6cc93efbce57b02
Autor:
Gian Luca Vita, M’Hammed Aguennouz, Francesca Polito, Rosaria Oteri, Massimo Russo, Luca Gentile, Cristina Barbagallo, Marco Ragusa, Carmelo Rodolico, Rosa Maria Di Giorgio, Antonio Toscano, Giuseppe Vita, Anna Mazzeo
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Transthyretin variant amyloidosis (ATTRv) is a rare autosomal dominant disease characterized by the accumulation of amyloid in many organs, mostly causing a sensory-motor neuropathy, cardiomyopathy, and dysautonomia. The aim of the study was to repor
Externí odkaz:
https://doaj.org/article/6bd4bd68560741d7b5d2c0532882ea66
Autor:
Luca Gentile, Massimo Russo, Marco Luigetti, Giulia Bisogni, Andrea Di Paolantonio, Angela Romano, Valeria Guglielmino, Ilenia Arimatea, Mario Sabatelli, Antonio Toscano, Giuseppe Vita, Anna Mazzeo
Publikováno v:
Brain Sciences, Vol 11, Iss 4, p 515 (2021)
Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising th
Externí odkaz:
https://doaj.org/article/67501ac7986a41c0a8a6c4a97de19b73