Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Tuuli Mustonen"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Background Gelsolin amyloidosis (AGel amyloidosis) is a hereditary form of systemic amyloidosis featuring ophthalmological, neurological and cutaneous symptoms. Previous studies based mainly on patients’ self-reporting have indicated that
Externí odkaz:
https://doaj.org/article/1bd94bf51f094309b1dfb8b65d826fcb
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The
Externí odkaz:
https://doaj.org/article/1ec4b274c5604c4e8dc6475a521e6a85
Autor:
Miia Holmström, Arttu Holkeri, Sami Pakarinen, Sari Atula, Aapo L. Aro, Sari Kiuru-Enari, Lauri Lehmonen, Tuuli Mustonen
Publikováno v:
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 28(3)
Introduction Finnish gelsolin amyloidosis (AGel amyloidosis) is an inherited systemic amyloidosis with well-known ophthalmological, neurological and cutaneous symptoms. Additionally, cardiomyopathies, conduction disorders and need of cardiac pacemake
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe1326e7a7edfc092953aac353d7ee9
https://pubmed.ncbi.nlm.nih.gov/33877023
https://pubmed.ncbi.nlm.nih.gov/33877023
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Background Hereditary gelsolin (AGel) amyloidosis is an autosomal dominantly inherited systemic amyloidosis that manifests with the characteristic triad of progressive ophthalmological, neurological and dermatological signs and symptoms. The National
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd2639792c552f3a1b7d47eba361442
http://hdl.handle.net/10138/313027
http://hdl.handle.net/10138/313027
Publikováno v:
The International Journal of Cardiovascular Imaging
Gelsolin (AGel) amyloidosis is a hereditary condition with common neurological effects. Myocardial involvement, especially strain, T1, or extracellular volume (ECV), in this disease has not been investigated before. Local myocardial effects and possi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6236f5ed3c85dfc782a53bb4da4c357
https://pubmed.ncbi.nlm.nih.gov/30848402
https://pubmed.ncbi.nlm.nih.gov/30848402
Autor:
Sari Atula, Pentti J. Tienari, Tuuli Mustonen, Miko Valori, Eeva-Kaisa Schmidt, Sari Kiuru-Enari
Finnish gelsolin amyloidosis (AGel amyloidosis) is an autosomal dominantly inherited systemic disorder with ophthalmologic, neurologic and dermatologic symptoms. Only the gelsolin (GSN) c.640G>A variant has been found in the Finnish patients thus far
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::091e92b5400075bec9d5234af065e70d
http://hdl.handle.net/10138/232521
http://hdl.handle.net/10138/232521