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Tytuł :
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Autorzy :
Verheijen J; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
van der Zee J; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Gijselinck I; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van den Bossche T; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Edegem, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
Dillen L; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Heeman B; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Gómez-Tortosa E; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Lladó A; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Sanchez-Valle R; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Graff C; Department of Neurobiology, Care Sciences and Society (NVS), Center for Alzheimer Research, Division of Neurogeriatrics, Karolinska Institutet, Huddinge, Sweden; Department of Geriatric Medicine, Genetics Unit, Karolinska University Hospital, Stockholm, Sweden.
Pastor P; Memory Unit, Department of Neurology, University Hospital Mútua de Terrassa, University of Barcelona School of Medicine, Terrassa, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.
Pastor MA; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain.
Benussi L; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
Ghidoni R; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
Binetti G; Molecular Markers Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy; MAC Memory Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Centro San Giovanni di Dio-Fatebenefratelli, Brescia, Italy.
Clarimon J; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain; Department of Neurology, IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
de Mendonça A; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Gelpi E; Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Tsolaki M; Third Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Diehl-Schmid J; Department of Psychiatry and Psychotherapy, Technische Universität München, München, Germany.
Nacmias B; Department of Neurosciences, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Almeida MR; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Borroni B; Centre for Neurodegenerative Disorders, Neurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Matej R; Department of Pathology, First Medical Faculty, Charles University and Department of Pathology and Molecular Medicine, Thomayer Hospital in Prague, Prague, Czech Republic.
Ruiz A; Fundació ACE, Institut Català de Neurociències Aplicades, Barcelona, Spain.
Engelborghs S; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
Vandenberghe R; Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
De Deyn PP; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
Cruts M; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address: .
Sleegers K; Neurodegenerative Brain Diseases group, VIB Center for Molecular Neurology, University of Antwerp, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address: .
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Corporate Authors :
BELNEU Consortium
EU EOD Consortium
Źródło :
Neurobiology of aging [Neurobiol Aging] 2018 Feb; Vol. 62, pp. 245.e1-245.e7. Date of Electronic Publication: 2017 Oct 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Alzheimer Disease/*genetics
Genetic Variation/*genetics
Loss of Function Mutation/*genetics
Protein-Serine-Threonine Kinases/*genetics
Aged ; Alleles ; Amyotrophic Lateral Sclerosis/genetics ; Cohort Studies ; Europe ; Female ; Frontotemporal Dementia/genetics ; Heterozygote ; Homozygote ; Humans ; Male ; Middle Aged ; Risk
Czasopismo naukowe
Tytuł :
Data Mining: Applying the AD&FTD Mutation Database to Progranulin.
Autorzy :
Cruts M; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, University of Antwerp - CDE, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, University of Antwerp - CDE, Antwerp, Belgium. .; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. .
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Źródło :
Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1806, pp. 81-92.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*genetics
Data Mining/*methods
Frontotemporal Dementia/*genetics
Mutation/*genetics
Progranulins/*genetics
Amino Acid Sequence ; Databases, Genetic ; Genome ; Humans ; Progranulins/chemistry
Czasopismo naukowe
Tytuł :
Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations.
Autorzy :
Bettens K; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Vermeulen S; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Van Cauwenberghe C; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Heeman B; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Asselbergh B; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Robberecht C; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Engelborghs S; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .; Department of Neurology and Memory Clinic, Hospital Network Antwerp Middelheim and Hoge Beuken, Antwerp, Belgium. .
Vandenbulcke M; Department of Psychiatry and Memory Clinic, University of Leuven and University Hospitals Leuven Gasthuisberg, Leuven, Belgium. .
Vandenberghe R; Laboratory for Cognitive Neurology, Department of Neurology, University of Leuven and University Hospitals Leuven Gasthuisberg, Leuven, Belgium. .
De Deyn PP; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .; Department of Neurology and Memory Clinic, Hospital Network Antwerp Middelheim and Hoge Beuken, Antwerp, Belgium. .; Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands. .
Cruts M; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. marc.cruts@molgen.vib-ua.be.; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. marc.cruts@molgen.vib-ua.be.
Van Broeckhoven C; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
Sleegers K; VIB Department of Molecular Genetics, University of Antwerp - CDE, Building V Universiteitsplein 1, B-2610, Antwerpen, Belgium. .; Institute Born-Bunge, Laboratory of Neurochemistry and Behavior, University of Antwerp, Antwerp, Belgium. .
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Źródło :
Molecular neurodegeneration [Mol Neurodegener] 2015 Jul 16; Vol. 10, pp. 30. Date of Electronic Publication: 2015 Jul 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Alzheimer Disease/*genetics
Clusterin/*metabolism
Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/physiopathology ; Amino Acid Substitution ; Belgium/epidemiology ; Biological Transport ; Clusterin/genetics ; Cystine/chemistry ; Dimerization ; Endoplasmic Reticulum/metabolism ; Exons/genetics ; Female ; Frameshift Mutation ; Golgi Apparatus/metabolism ; HEK293 Cells ; HeLa Cells ; Humans ; Male ; Protein Conformation ; Recombinant Fusion Proteins/metabolism ; Transduction, Genetic ; Transfection
Czasopismo naukowe
Tytuł :
Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia.
Autorzy :
Cuyvers E; Neurodegenerative Brain Diseases group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Bettens K
Philtjens S
Van Langenhove T
Gijselinck I
van der Zee J
Engelborghs S
Vandenbulcke M
Van Dongen J
Geerts N
Maes G
Mattheijssens M
Peeters K
Cras P
Vandenberghe R
De Deyn PP
Van Broeckhoven C
Cruts M
Sleegers K
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Corporate Authors :
BELNEU consortium
Źródło :
Neurobiology of aging [Neurobiol Aging] 2014 Mar; Vol. 35 (3), pp. 726.e11-9. Date of Electronic Publication: 2013 Oct 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Variation*
Heterozygote*
Alzheimer Disease/*genetics
Frontotemporal Dementia/*genetics
Membrane Glycoproteins/*genetics
Receptors, Immunologic/*genetics
Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Belgium/epidemiology ; Cohort Studies ; Female ; Frontotemporal Dementia/epidemiology ; Humans ; Male ; Meta-Analysis as Topic ; Middle Aged ; Prospective Studies
Czasopismo naukowe
Tytuł :
C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.
Autorzy :
Cacace R; Department of Molecular Genetics, VIB, Antwerp, Belgium.
Van Cauwenberghe C
Bettens K
Gijselinck I
van der Zee J
Engelborghs S
Vandenbulcke M
Van Dongen J
Bäumer V
Dillen L
Mattheijssens M
Peeters K
Cruts M
Vandenberghe R
De Deyn PP
Van Broeckhoven C
Sleegers K
Pokaż więcej
Źródło :
Neurobiology of aging [Neurobiol Aging] 2013 Jun; Vol. 34 (6), pp. 1712.e1-7. Date of Electronic Publication: 2013 Jan 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*diagnosis
Alzheimer Disease/*genetics
Cognitive Dysfunction/*diagnosis
Cognitive Dysfunction/*genetics
DNA Repeat Expansion/*genetics
Proteins/*genetics
Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Belgium/epidemiology ; C9orf72 Protein ; Cognitive Dysfunction/epidemiology ; Cohort Studies ; Female ; Humans ; Male ; Prospective Studies
Czasopismo naukowe
Tytuł :
Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism.
Autorzy :
Hazrati LN; Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario, Canada.
Van Cauwenberghe C
Brooks PL
Brouwers N
Ghani M
Sato C
Cruts M
Sleegers K
St George-Hyslop P
Van Broeckhoven C
Rogaeva E
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2012 Dec; Vol. 33 (12), pp. 2949.e5-2949.e12. Date of Electronic Publication: 2012 Jul 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Alzheimer Disease/*genetics
DNA Copy Number Variations/*genetics
Polymorphism, Single Nucleotide/*genetics
Receptors, Complement 3b/*genetics
Aged ; Aged, 80 and over ; Alzheimer Disease/metabolism ; Apolipoprotein E4/genetics ; Canada ; Chi-Square Distribution ; Cohort Studies ; Female ; Gene Frequency ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Protein Isoforms/genetics ; Protein Isoforms/metabolism ; Receptors, Complement 3b/metabolism
Czasopismo naukowe
Tytuł :
Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.
Autorzy :
Brouwers N; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.
Van Cauwenberghe C
Engelborghs S
Lambert JC
Bettens K
Le Bastard N
Pasquier F
Montoya AG
Peeters K
Mattheijssens M
Vandenberghe R
Deyn PP
Cruts M
Amouyel P
Sleegers K
Van Broeckhoven C
Pokaż więcej
Źródło :
Molecular psychiatry [Mol Psychiatry] 2012 Feb; Vol. 17 (2), pp. 223-33. Date of Electronic Publication: 2011 Mar 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*genetics
Complement Factor I/*metabolism
DNA Copy Number Variations/*genetics
Polymorphism, Single Nucleotide/*genetics
Receptors, Complement/*genetics
Aged ; Aged, 80 and over ; Alzheimer Disease/cerebrospinal fluid ; Amyloid beta-Peptides/cerebrospinal fluid ; Apolipoprotein E4/genetics ; Cohort Studies ; Female ; Gene Frequency ; Genome-Wide Association Study ; Genotype ; Humans ; Logistic Models ; Male ; Meta-Analysis as Topic ; Odds Ratio ; Peptide Fragments/cerebrospinal fluid ; Segmental Duplications, Genomic ; tau Proteins/cerebrospinal fluid
Czasopismo naukowe
Tytuł :
The pursuit of susceptibility genes for Alzheimer's disease: progress and prospects.
Autorzy :
Sleegers K; Neurodegenerative Brain Diseases Group, VIB-Department of Molecular Genetics; Universiteitsplein 1, B-2610 Antwerp, Belgium.
Lambert JC
Bertram L
Cruts M
Amouyel P
Van Broeckhoven C
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Źródło :
Trends in genetics : TIG [Trends Genet] 2010 Feb; Vol. 26 (2), pp. 84-93. Date of Electronic Publication: 2010 Jan 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Predisposition to Disease*
Alzheimer Disease/*drug therapy
Alzheimer Disease/*genetics
Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Animals ; Disease Progression ; Drug Design ; Gene Expression Profiling ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł :
Contribution of TARDBP to Alzheimer's disease genetic etiology.
Autorzy :
Brouwers N; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium.
Bettens K
Gijselinck I
Engelborghs S
Pickut BA
Van Miegroet H
Montoya AG
Mattheijssens M
Peeters K
De Deyn PP
Cruts M
Sleegers K
Van Broeckhoven C
Pokaż więcej
Źródło :
Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2010; Vol. 21 (2), pp. 423-30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Point Mutation*
Alzheimer Disease/*etiology
Alzheimer Disease/*genetics
DNA-Binding Proteins/*genetics
Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/metabolism ; DNA Mutational Analysis ; DNA-Binding Proteins/metabolism ; Exons/genetics ; Female ; Genetic Variation ; Humans ; Male ; Middle Aged ; Nuclear Localization Signals/genetics ; Nuclear Localization Signals/metabolism ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Novel PSEN1 mutation in a Bulgarian patient with very early-onset Alzheimer's disease, spastic paraparesis, and extrapyramidal signs.
Autorzy :
Dintchov Traykov L; Department of Neurology, Medical University, Sofia, Bulgaria. />Mehrabian S
Van den Broeck M
Radoslavova Raycheva M
Cruts M
Kirilova Jordanova A
Van Broeckhoven C
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Źródło :
American journal of Alzheimer's disease and other dementias [Am J Alzheimers Dis Other Demen] 2009 Oct-Nov; Vol. 24 (5), pp. 404-7.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*genetics
Basal Ganglia Diseases/*genetics
Paraparesis, Spastic/*genetics
Presenilin-1/*genetics
Adult ; Age of Onset ; Bulgaria ; Family Health ; Female ; Humans ; Pedigree ; Phenotype ; Point Mutation
Czasopismo naukowe
Tytuł :
Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease.
Autorzy :
Brouwers N; VIB-Department of Molecular Genetics, Neurodegenerative Brain Diseases Group, University of Antwerp-Campus CDE, Universiteitsplein 1, B-2610 Antwerpen, Belgium. />Sleegers K
Engelborghs S
Maurer-Stroh S
Gijselinck I
van der Zee J
Pickut BA
Van den Broeck M
Mattheijssens M
Peeters K
Schymkowitz J
Rousseau F
Martin JJ
Cruts M
De Deyn PP
Van Broeckhoven C
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Źródło :
Neurology [Neurology] 2008 Aug 26; Vol. 71 (9), pp. 656-64. Date of Electronic Publication: 2008 Jun 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alzheimer Disease/*genetics
Genetic Predisposition to Disease/*genetics
Genetic Variation/*genetics
Intercellular Signaling Peptides and Proteins/*genetics
Aged ; Aged, 80 and over ; Amino Acid Sequence/genetics ; DNA Mutational Analysis ; Female ; Genetic Markers/genetics ; Genetic Testing ; Haplotypes/genetics ; Humans ; Male ; Middle Aged ; Mutation, Missense/genetics ; Progranulins ; Protein Folding
Czasopismo naukowe
Tytuł :
APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.
Autorzy :
Sleegers K; Neurodegenerative Brain Diseases Group Antwerp, Belgium.
Brouwers N
Gijselinck I
Theuns J
Goossens D
Wauters J
Del-Favero J
Cruts M
van Duijn CM
Van Broeckhoven C
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Źródło :
Brain : a journal of neurology [Brain] 2006 Nov; Vol. 129 (Pt 11), pp. 2977-83. Date of Electronic Publication: 2006 Aug 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Duplication*
Alzheimer Disease/*genetics
Amyloid beta-Protein Precursor/*genetics
Cerebral Amyloid Angiopathy/*genetics
Adult ; Age of Onset ; Aged ; Alzheimer Disease/complications ; Cerebral Amyloid Angiopathy/complications ; Female ; Genes, Dominant ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Pedigree ; Polymerase Chain Reaction/methods
Czasopismo naukowe
Tytuł :
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Autorzy :
Theuns J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Belgium.
Marjaux E
Vandenbulcke M
Van Laere K
Kumar-Singh S
Bormans G
Brouwers N
Van den Broeck M
Vennekens K
Corsmit E
Cruts M
De Strooper B
Van Broeckhoven C
Vandenberghe R
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2006 Sep; Vol. 27 (9), pp. 888-96.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation, Missense*
Alzheimer Disease/*genetics
Amyloid beta-Protein Precursor/*genetics
Aged ; Alzheimer Disease/diagnosis ; Alzheimer Disease/diagnostic imaging ; Amyloid beta-Protein Precursor/chemistry ; Amyloid beta-Protein Precursor/metabolism ; Animals ; Belgium ; Brain/diagnostic imaging ; Cell Line ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree ; Positron-Emission Tomography ; Protein Processing, Post-Translational ; Protein Structure, Tertiary ; Sequence Analysis, Protein
Czasopismo naukowe
Tytuł :
Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40.
Autorzy :
Kumar-Singh S; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology, University of Antwerp, Antwerpen, Belgium. />Theuns J
Van Broeck B
Pirici D
Vennekens K
Corsmit E
Cruts M
Dermaut B
Wang R
Van Broeckhoven C
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2006 Jul; Vol. 27 (7), pp. 686-95.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Alzheimer Disease/*diagnosis
Amyloid beta-Peptides/*metabolism
Membrane Proteins/*genetics
Peptide Fragments/*metabolism
Adult ; Age of Onset ; Alzheimer Disease/epidemiology ; Alzheimer Disease/genetics ; Biomarkers ; Brain/metabolism ; Cell Line ; Densitometry ; Enzyme-Linked Immunosorbent Assay ; Humans ; Membrane Proteins/chemistry ; Middle Aged ; Presenilin-1 ; Presenilin-2 ; Protein Structure, Tertiary ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Czasopismo naukowe
Tytuł :
Reduced functional brain activity response in cognitively intact apolipoprotein E epsilon4 carriers.
Autorzy :
Lind J; Department of Clinical Neuroscience, MR Research Center, Karolinska Hospital N-8, Stockholm, Sweden. />Persson J
Ingvar M
Larsson A
Cruts M
Van Broeckhoven C
Adolfsson R
Bäckman L
Nilsson LG
Petersson KM
Nyberg L
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Źródło :
Brain : a journal of neurology [Brain] 2006 May; Vol. 129 (Pt 5), pp. 1240-8. Date of Electronic Publication: 2006 Mar 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Carrier State*
Alzheimer Disease/*genetics
Apolipoproteins E/*genetics
Brain/*physiopathology
Aged ; Alzheimer Disease/diagnosis ; Alzheimer Disease/physiopathology ; Apolipoprotein E4 ; Brain Mapping/methods ; Early Diagnosis ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Hippocampus/physiopathology ; Humans ; Magnetic Resonance Imaging/methods ; Male ; Memory ; Middle Aged ; Neuropsychological Tests ; Prospective Studies ; Semantics
Czasopismo naukowe
Tytuł :
Altered brain white matter integrity in healthy carriers of the APOE epsilon4 allele: a risk for AD?
Autorzy :
Persson J; Department of Psychology, Umeå University, S-901 87 Umeå, Sweden. />Lind J
Larsson A
Ingvar M
Cruts M
Van Broeckhoven C
Adolfsson R
Nilsson LG
Nyberg L
Pokaż więcej
Źródło :
Neurology [Neurology] 2006 Apr 11; Vol. 66 (7), pp. 1029-33.
Typ publikacji :
Journal Article
MeSH Terms :
Alzheimer Disease/*genetics
Alzheimer Disease/*pathology
Apolipoproteins E/*genetics
Brain/*pathology
Cognition/*physiology
Aged ; Apolipoprotein E4 ; Carrier State ; Dementia/genetics ; Genetic Carrier Screening ; Health Status ; Homozygote ; Humans ; Memory ; Middle Aged ; Reference Values ; Risk Factors
Czasopismo naukowe
Tytuł :
Reduced hippocampal volume in non-demented carriers of the apolipoprotein E epsilon4: relation to chronological age and recognition memory.
Autorzy :
Lind J; Department of Clinical Neuroscience, MR Research Center, Karolinska Hospital N-8, S-171 76 Stockholm, Sweden. />Larsson A
Persson J
Ingvar M
Nilsson LG
Bäckman L
Adolfsson R
Cruts M
Sleegers K
Van Broeckhoven C
Nyberg L
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Źródło :
Neuroscience letters [Neurosci Lett] 2006 Mar 20; Vol. 396 (1), pp. 23-7. Date of Electronic Publication: 2006 Jan 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Aging/*genetics
Alzheimer Disease/*genetics
Apolipoproteins E/*genetics
Atrophy/*genetics
Genetic Predisposition to Disease/*genetics
Hippocampus/*pathology
Age Factors ; Aged ; Aging/pathology ; Alzheimer Disease/diagnosis ; Alzheimer Disease/psychology ; Apolipoprotein E4 ; Atrophy/pathology ; Atrophy/physiopathology ; Brain Mapping ; Cognition Disorders/diagnosis ; Cognition Disorders/genetics ; Cognition Disorders/psychology ; Early Diagnosis ; Female ; Heterozygote ; Hippocampus/physiopathology ; Humans ; Magnetic Resonance Imaging ; Male ; Memory/physiology ; Memory Disorders/diagnosis ; Memory Disorders/genetics ; Memory Disorders/psychology ; Middle Aged ; Neuropsychological Tests ; Polycyclic Compounds ; Prognosis ; Spiro Compounds
Czasopismo naukowe
Tytuł :
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Autorzy :
Dermaut B; Department of Molecular Genetics (VIB 8), Flanders Interuniversity Institute for Biotechnology, Neurodegenerative Brain Diseases Group, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerpen, Belgium.
Kumar-Singh S
Rademakers R
Theuns J
Cruts M
Van Broeckhoven C
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Źródło :
Trends in genetics : TIG [Trends Genet] 2005 Dec; Vol. 21 (12), pp. 664-72. Date of Electronic Publication: 2005 Oct 10.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Alzheimer Disease/*genetics
Amyloid beta-Protein Precursor/*genetics
Membrane Proteins/*genetics
Nerve Tissue Proteins/*genetics
Alzheimer Disease/metabolism ; Alzheimer Disease/physiopathology ; Alzheimer Disease/psychology ; Amyloid beta-Protein Precursor/physiology ; Humans ; Membrane Proteins/physiology ; Nerve Tissue Proteins/physiology ; Phenotype ; Presenilin-1 ; tau Proteins
Czasopismo naukowe
Tytuł :
Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.
Autorzy :
Rademakers R; Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium.
Cruts M
Sleegers K
Dermaut B
Theuns J
Aulchenko Y
Weckx S
De Pooter T
Van den Broeck M
Corsmit E
De Rijk P
Del-Favero J
van Swieten J
van Duijn CM
Van Broeckhoven C
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Źródło :
American journal of human genetics [Am J Hum Genet] 2005 Oct; Vol. 77 (4), pp. 643-52. Date of Electronic Publication: 2005 Aug 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosomes, Human, Pair 7*
Genetic Linkage*
Genetics, Population*
Alzheimer Disease/*genetics
Aged ; Female ; Humans ; Male ; Middle Aged ; Netherlands ; Pedigree ; Polymorphism, Single Nucleotide
Czasopismo naukowe

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