Zobrazeno 1 - 10
of 772
pro vyhledávání: '"Amyloid neuropathy"'
Autor:
Andreas Thimm, Sara Oubari, Julia Hoffmann, Alexander Carpinteiro, Maria Papathanasiou, Peter Luedike, Lukas Kessler, Christoph Rischpler, Christoph Röcken, Isabel Diebold, Tienush Rassaf, Hartmut Schmidt, Christoph Kleinschnitz, Tim Hagenacker
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, genetically heterogeneous and phenotypically variable systemic disease characterized by deposition of misfolded transthyretin fibrils in various tissues. ATTRv cardiomyopathy
Externí odkaz:
https://doaj.org/article/7a3879ea94ce4092bac547a3d5cb5e2e
Akademický článek
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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:
Vincenzo Di Stefano, Ewan Thomas, Valerio Giustino, Salvatore Iacono, Angelo Torrente, Guglielmo Pillitteri, Andrea Gagliardo, Antonino Lupica, Antonio Palma, Giuseppe Battaglia, Filippo Brighina
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
PurposeHereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, and characterized by a m
Externí odkaz:
https://doaj.org/article/1ad88937f1c646d59da1815469279457
Autor:
Vincenzo Di Stefano, Ewan Thomas, Paolo Alonge, Valerio Giustino, Guglielmo Pillitteri, Ignazio Leale, Angelo Torrente, Antonia Pignolo, Davide Norata, Salvatore Iacono, Antonino Lupica, Antonio Palma, Giuseppe Battaglia, Filippo Brighina
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 62 (2022)
Background and aims. Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. The clinical phenotype is heterogeneous, characteri
Externí odkaz:
https://doaj.org/article/cf759ee29fb34ed29a544e6bfe0323b7
Akademický článek
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Autor:
Maria S. Saez, Maria A. Aguirre, Diego Pérez de Arenaza, Patricia Sorroche, Elsa Nucifora, Maria L. Posadas Martinez
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background In Argentina, there is limited data of prevalence of variant transthyretin amyloidosis (ATTRv) and phenotype‐genotype correlation. The laboratory of Hospital Italiano de Buenos Aires (HIBA) is a reference center for transthyreti
Externí odkaz:
https://doaj.org/article/5d73036fc1a04e02bbbc75b74a265219
Akademický článek
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Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 10, Iss 3, Pp 12-18 (2018)
Peripheral nervous system involvement may be a main manifestation of systemic amyloidosis or occur in the later stages of the disease in the presence of multiple organ pathology. Focal, multiple mononeuropathy, radiculopathy, polyneuropathy, autonomi
Externí odkaz:
https://doaj.org/article/989c56273bf2422594d37c07a00af264
Autor:
Dietrich Sturm, Tobias Schmidt-Wilcke, Tineke Greiner, Christoph Maier, Marc Schargus, Martin Tegenthoff, Matthias Vorgerd
Publikováno v:
Case Reports in Neurology, Vol 8, Iss 2, Pp 134-139 (2016)
Changes in the subbasal corneal plexus detected by confocal cornea microscopy (CCM) have been described for various types of neuropathy. An involvement of these nerves within light-chain (AL) amyloid neuropathy (a rare cause of polyneuropathy) has ne
Externí odkaz:
https://doaj.org/article/809c799cbabc44b0943b592202e851bb