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Fletta eftir höfundi "Palsdottir, Astridur"

Fletta eftir höfundi "Palsdottir, Astridur"

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    NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients 
    March, Michael E.; Gutierrez-Uzquiza, Alvaro; Snorradottir, Asbjorg Osk; Matsuoka, Leticia S.; Balvis, Noelia Fonseca; Gestsson, Thorgeir; Nguyen, Kenny; Sleiman, Patrick M.A.; Kao, Charlly; Ísaksson, Helgi Jóhannes; Bragason, Birkir Thor; Ólafsson, Elías; Palsdottir, Astridur; Hakonarson, Hakon (2021-03-23)
    Hereditary cystatin C amyloid angiopathy is a dominantly inherited disease caused by a leucine to glutamine variant of human cystatin C (hCC). L68Q-hCC forms amyloid deposits in brain arteries associated with micro-infarcts, leading ultimately to ...
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    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    Klemenzdottir, Elin Ola; Arnadottir, Gudny A; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jónsson, Jón Jóhannes; Stefánsdóttir, Vigdís Fjóla; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar Sturla; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Björnsson, Hans Tómas; Stefansson, Kari; Sulem, Patrick (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...
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    Veitti mataræði fyrr á öldum vernd gegn arfgengri heilablæðingu í arfberum cystatin L68Q stökkbreytingarinnar? 
    Palsdottir, Astridur; Snorradóttir, Ásbjörg Ósk; Hakonarson, Hakon (2022-12-07)
    Ágrip Arfgeng heilablæðing (hereditary cystatin C amyloid angiopathy, HCCAA) er ríkjandi erfðasjúkdómur sem stafar af stökkbreytingu í cystatin C-geninu, CST3. Stökkbreytt cystatin C safnast upp í smáslagæðum heilans sem mýlildi og veldur síendurteknum ...