Autor: "Thonberg, H." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study.
Autorzy:: Thordardottir S; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, 141 57, Huddinge, Sweden.; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
Rodriguez-Vieitez E; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Translational Alzheimer Neurobiology, 141 57, Huddinge, Sweden.
Almkvist O; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Translational Alzheimer Neurobiology, 141 57, Huddinge, Sweden.; Department of Psychology, Stockholm University, 106 91, Stockholm, Sweden.
Ferreira D; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Clinical Geriatrics, 141 57, Huddinge, Sweden.
Saint-Aubert L; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Translational Alzheimer Neurobiology, 141 57, Huddinge, Sweden.; Toulouse NeuroImaging Center, Université de Toulouse, Inserm, UPS, Toulouse, France.
Kinhult-Ståhlbom A; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, 141 57, Huddinge, Sweden.; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
Thonberg H; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, 141 57, Huddinge, Sweden.; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
Schöll M; Wallenberg Centre for Molecular and Translational Medicine and the Department of Psychiatry and Neurochemistry, University of Gothenburg, 413 45, Gothenburg, Sweden.; Clinical Memory Research Unit, Lund University, 212 24, Malmö, Sweden.
Westman E; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Clinical Geriatrics, 141 57, Huddinge, Sweden.
Wall A; Uppsala University, Department of Surgical Sciences, Section of Nuclear Medicine & PET, 751 85, Uppsala, Sweden.
Eriksdotter M; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Clinical Geriatrics, 141 57, Huddinge, Sweden.
Zetterberg H; Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, 431 80, Mölndal, Sweden.; UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.; UK Dementia Research Institute at UCL, London, WC1N 3BG, UK.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, 431 80, Mölndal, Sweden.
Blennow K; Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry, The Sahlgrenska Academy at the University of Gothenburg, 431 80, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, 431 80, Mölndal, Sweden.
Nordberg A; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Translational Alzheimer Neurobiology, 141 57, Huddinge, Sweden.
Graff C; Karolinska Institutet, Department of Neurobiology, Care Sciences and Society, Center for Alzheimer Research, Division of Neurogeriatrics, 141 57, Huddinge, Sweden. .; Theme Aging, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden. .; Pokaż więcej
Źródło:: Alzheimer's research & therapy [Alzheimers Res Ther] 2018 May 10; Vol. 10 (1), pp. 45. Date of Electronic Publication: 2018 May 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Alzheimer Disease/*genetics
Mutation/*genetics
Presenilin-1/*genetics
Aged ; Alzheimer Disease/cerebrospinal fluid ; Alzheimer Disease/diagnostic imaging ; Aniline Compounds/metabolism ; Genetic Testing ; Humans ; Longitudinal Studies ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Neuropsychological Tests ; Positron-Emission Tomography ; Siblings ; Thiazoles/metabolism

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Skocz do pozycji: 2.

Tytuł:: Identification and description of three families with familial Alzheimer disease that segregate variants in the SORL1 gene.
Autorzy:: Thonberg H; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden. hakan.thonberg@sll.se.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden. hakan.thonberg@sll.se.
Chiang HH; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Lilius L; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Forsell C; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Lindström AK; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Johansson C; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Björkström J; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Thordardottir S; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Sleegers K; Neurodegenerative Brain Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Disease Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Rönnbäck A; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden.; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden.
Graff C; Department NVS, Center for Alzheimer Research, Division for Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden. .; Department of Geriatric Medicine, Genetics unit, Karolinska University Hospital, Stockholm, Sweden. .; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2017 Jun 09; Vol. 5 (1), pp. 43. Date of Electronic Publication: 2017 Jun 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Genetic Predisposition to Disease*
Genetic Variation*
Alzheimer Disease/*genetics
LDL-Receptor Related Proteins/*genetics
Membrane Transport Proteins/*genetics
Aged ; Aged, 80 and over ; Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Amyloid beta-Protein Precursor/metabolism ; Brain/metabolism ; Brain/pathology ; Case-Control Studies ; Cohort Studies ; Family ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Exome Sequencing

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Skocz do pozycji: 3.

Tytuł:: The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
Autorzy:: Thordardottir S; Department NVS, Division of Neurogeriatrics, Center for Alzheimer Disease Research, Karolinska Institutet, 141 57, Huddinge, Sweden. .; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden. .
Kinhult Ståhlbom A; Department NVS, Division of Neurogeriatrics, Center for Alzheimer Disease Research, Karolinska Institutet, 141 57, Huddinge, Sweden.; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
Almkvist O; Department NVS, Center for Alzheimer Research, Division of Translational Alzheimer Neurobiology, Karolinska Institutet, 141 57, Huddinge, Sweden.
Thonberg H; Department NVS, Division of Neurogeriatrics, Center for Alzheimer Disease Research, Karolinska Institutet, 141 57, Huddinge, Sweden.; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.
Eriksdotter M; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.; Department NVS, Division for Clinical Geriatrics, Center for Alzheimer Disease Research, Karolinska Institutet, 141 57, Huddinge, Sweden.
Zetterberg H; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, SE-431 80, Mölndal, Sweden.; UCL Insitute of Neurology, Queen Square, London, UK.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, SE-431 80, Mölndal, Sweden.
Blennow K; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at the University of Gothenburg, SE-431 80, Mölndal, Sweden.; Clinical Neurochemistry Laboratory, Sahlgrenska University Hospital, Mölndal, SE-431 80, Mölndal, Sweden.
Graff C; Department NVS, Division of Neurogeriatrics, Center for Alzheimer Disease Research, Karolinska Institutet, 141 57, Huddinge, Sweden.; Department of Geriatric Medicine, Karolinska University Hospital Huddinge, 141 86, Stockholm, Sweden.; Pokaż więcej
Źródło:: Alzheimer's research & therapy [Alzheimers Res Ther] 2017 Feb 16; Vol. 9 (1), pp. 9. Date of Electronic Publication: 2017 Feb 16.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation*
Alzheimer Disease/*genetics
Alzheimer Disease/*metabolism
Amyloid beta-Protein Precursor/*genetics
Amyloid beta-Protein Precursor/*metabolism
Apolipoproteins E/genetics ; Cross-Sectional Studies ; Family ; Heterozygote ; Humans ; Middle Aged ; Presenilin-1/genetics

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