The historical background of hereditary cystatin C amyloid angiopathy: Genealogical, pathological, and clinical manifestations.

Autor: Snorradottir AO; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland., Hakonarson H; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Center for Applied Genomics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Palsdottir A; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.

Publikováno v: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2024 Jul 25, pp. e13291. Date of Electronic Publication: 2024 Jul 25.

NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients.

Autor: March ME; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gutierrez-Uzquiza A; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biochemistry and Molecular Biology, Complutense Univeristy of Madrid, Madrid, Spain., Snorradottir AO; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland., Matsuoka LS; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Balvis NF; Department of Biochemistry and Molecular Biology, Complutense Univeristy of Madrid, Madrid, Spain., Gestsson T; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Neurology, Landspitali University Hospital, Reykjavik, Iceland., Nguyen K; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sleiman PMA; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Divisions of Human Genetics and Pulmonary Medicine, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kao C; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Isaksson HJ; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland., Bragason BT; Institute for Experimental Pathology at Keldur, University of Iceland, Reykjavik, Iceland., Olafsson E; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Department of Neurology, Landspitali University Hospital, Reykjavik, Iceland., Palsdottir A; Institute for Experimental Pathology at Keldur, University of Iceland, Reykjavik, Iceland., Hakonarson H; The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@chop.edu.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland. hakonarson@chop.edu.; Divisions of Human Genetics and Pulmonary Medicine, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. hakonarson@chop.edu.

Publikováno v: Nature communications [Nat Commun] 2021 Mar 23; Vol. 12 (1), pp. 1827. Date of Electronic Publication: 2021 Mar 23.

Deposition of collagen IV and aggrecan in leptomeningeal arteries of hereditary brain haemorrhage with amyloidosis.

Autor: Snorradottir AO; Institute for Experimental Pathology at Keldur, University of Iceland, Reykjavik, Iceland., Isaksson HJ, Kaeser SA, Skodras AA, Olafsson E, Palsdottir A, Bragason BT

Publikováno v: Brain research [Brain Res] 2013 Oct 16; Vol. 1535, pp. 106-14. Date of Electronic Publication: 2013 Aug 20.