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Tytuł :
Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.
Autorzy :
Cacace R; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Heeman B; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Van Mossevelde S; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; 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.
De Roeck A; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Hoogmartens J; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
De Rijk P; Center for Molecular Neurology, VIB, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Gossye H; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; 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.
De Vos K; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
De Coster W; Center for Molecular Neurology, VIB, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Strazisar M; Center for Molecular Neurology, VIB, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
De Baets G; Switch Laboratory, VIB-KU Leuven Centre for Brain and Disease Research, Louvain, Belgium.; Switch Laboratory, Department of Cellular and Molecular Medicine, KU Leuven, Louvain, Belgium.
Schymkowitz J; Switch Laboratory, VIB-KU Leuven Centre for Brain and Disease Research, Louvain, Belgium.; Switch Laboratory, Department of Cellular and Molecular Medicine, KU Leuven, Louvain, Belgium.
Rousseau F; Switch Laboratory, VIB-KU Leuven Centre for Brain and Disease Research, Louvain, Belgium.; Switch Laboratory, Department of Cellular and Molecular Medicine, KU Leuven, Louvain, Belgium.
Geerts N; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
De Pooter T; Center for Molecular Neurology, VIB, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Peeters K; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Sieben A; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; Department of Neurology, University Hospital Ghent and University of Ghent, Ghent, Belgium.
Martin JJ; Institute Born-Bunge, Antwerp, Belgium.
Engelborghs S; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA), Middelheim and Hoge Beuken, Antwerp, Belgium.
Salmon E; Department of Neurology, Centre Hospitalier Universitaire de Liège and University of Liège, Liège, Belgium.
Santens P; Department of Neurology, University Hospital Ghent and University of Ghent, Ghent, Belgium.
Vandenberghe R; Department of Neurosciences, Faculty of Medicine, KU Leuven, Louvain, Belgium.; Laboratory of Cognitive Neurology, Department of Neurology, University Hospitals Leuven, Louvain, Belgium.
Cras P; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
P De Deyn P; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA), Middelheim and Hoge Beuken, Antwerp, Belgium.
C van Swieten J; Department of Neurology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
M van Duijn C; Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, The Netherlands.
van der Zee J; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Sleegers K; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Center for Molecular Neurology, VIB, Antwerp, Belgium. .; Institute Born-Bunge, Antwerp, Belgium. .; University of Antwerp, Antwerp, Belgium. .; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, University of Antwerp, CDE, Universiteitsplein 1, 2610, Antwerp, Belgium. .
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Corporate Authors :
BELNEU Consortium
Źródło :
Acta neuropathologica [Acta Neuropathol] 2019 Jun; Vol. 137 (6), pp. 901-918. Date of Electronic Publication: 2019 Mar 14.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Inversion*
Mutation*
Dementia/*genetics
Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/*deficiency
Nerve Tissue Proteins/*deficiency
Neurodegenerative Diseases/*genetics
Neurons/*physiology
Potassium Channels/*deficiency
Action Potentials/physiology ; Adult ; Aged ; Chromosomes, Human, Pair 7/genetics ; Dementia/physiopathology ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/genetics ; Dipeptidyl-Peptidases and Tripeptidyl-Peptidases/physiology ; Female ; Genes, Dominant ; Homeostasis ; Humans ; Male ; Middle Aged ; Nerve Tissue Proteins/genetics ; Nerve Tissue Proteins/physiology ; Neurodegenerative Diseases/physiopathology ; Pedigree ; Penetrance ; Polymorphism, Single Nucleotide ; Potassium Channels/genetics ; Potassium Channels/physiology ; Protein Stability ; Protein Transport ; Synaptic Transmission ; Whole Genome Sequencing
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 :
Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation.
Autorzy :
Gómez-Tortosa E; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Van der Zee J; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Ruggiero M; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Gijselinck I; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Esteban-Pérez J; ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
García-Redondo A; ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
Borrego-Hernández D; ALS Unit, 12 de Octubre Hospital Health Research Institute 'imas12', and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER U-723), Madrid, Spain.
Navarro E; Department of Neurology, Hospital Infanta Leonor, Madrid, Spain.
Sainz MJ; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
Pérez-Pérez J; Department of Genetics, Secugen S.L., Madrid, Spain.
Cruts M; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Guerrero-López R; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.; Instituto de Investigaciones Sanitarias Fundación Jiménez Díaz (IIS-FJD) and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.
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Corporate Authors :
EU EOD Consortium
Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2017 Nov; Vol. 88 (11), pp. 996-997. Date of Electronic Publication: 2017 Apr 01.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Frontotemporal Dementia/*genetics
Motor Neuron Disease/*genetics
Motor Neuron Disease/*psychology
Mutation/*genetics
Protein-Serine-Threonine Kinases/*genetics
Aged ; Case-Control Studies ; Europe ; Female ; Frontotemporal Dementia/complications ; Humans ; Male ; Middle Aged ; Pedigree
Raport
Tytuł :
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease.
Autorzy :
De Roeck A; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van den Bossche T; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, 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.
van der Zee J; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Verheijen J; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
De Coster W; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Dongen J; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Dillen L; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Baradaran-Heravi Y; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Heeman B; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
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.
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.
Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.
Sorbi S; Department of Neuroscience, Psychology, Drug Research and Child Health (NEUROFARBA), University of Florence, Florence, Italy.; IRCCS Don Gnocchi, Florence, Italy.
Gelpi E; Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Grau-Rivera O; Neurological Tissue Bank of the Biobanc, Hospital Clinic, Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.
Gómez-Tortosa E; Department of Neurology, Fundación Jiménez Díaz, Madrid, Spain.
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.
Ortega-Cubero S; 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.
Graff C; Department of Neurobiology, Care Sciences and Society (NVS), Division of Neurogeriatrics, Center for Alzheimer Research, Karolinska Institutet, Huddinge, Stockholm, Sweden.; Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden.
Thonberg H; Department of Neurobiology, Care Sciences and Society (NVS), Division of Neurogeriatrics, Center for Alzheimer Research, Karolinska Institutet, Huddinge, Stockholm, Sweden.; Genetics Unit, Department of Geriatric Medicine, Karolinska University Hospital, Stockholm, Sweden.
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.
de Mendonça A; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Martins M; Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
Borroni B; Neurology Unit, Department of Clinical and Experimental Sciences, Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy.
Padovani A; Neurology Unit, Department of Clinical and Experimental Sciences, Centre for Neurodegenerative Disorders, University of Brescia, Brescia, Italy.
Almeida MR; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Santana I; Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Diehl-Schmid J; Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany.
Alexopoulos P; Department of Psychiatry and Psychotherapy, Technische Universität München, Munich, Germany.
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.
Lleó A; 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.
Fortea 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.
Tsolaki M; 3rd Department of Neurology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Koutroumani M; Laboratory of Biochemistry, Department of Chemistry, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Matěj R; Department of Pathology, First Medical Faculty, Charles University, Prague, Czech Republic.; Department of Pathology and Molecular Medicine, Thomayer Hospital, Prague, Czech Republic.
Rohan Z; Department of Pathology, First Medical Faculty, Charles University, Prague, Czech Republic.; Department of Pathology and Molecular Medicine, Thomayer Hospital, Prague, Czech Republic.; Institute of Pathology, Third Medical Faculty, Charles University, Prague, Czech Republic.
De Deyn P; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology and Memory Clinic, Hospital Network Antwerp (ZNA) Middelheim and Hoge Beuken, Antwerp, Belgium.
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.
Cras P; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, Antwerp University Hospital, Edegem, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. .; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. .
Sleegers K; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium. .; Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. .
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Corporate Authors :
European Early-Onset Dementia (EU EOD) consortium
Źródło :
Acta neuropathologica [Acta Neuropathol] 2017 Sep; Vol. 134 (3), pp. 475-487. Date of Electronic Publication: 2017 Apr 27.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Mutation*
Polymorphism, Single Nucleotide*
ATP-Binding Cassette Transporters/*genetics
Alzheimer Disease/*genetics
Adult ; Age of Onset ; Aged ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients.
Autorzy :
Perrone F; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Nguyen HP; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Mossevelde S; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Moisse M; Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium.
Sieben A; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, University Hospital Ghent and University of Ghent, Ghent, Belgium.
Santens P; Department of Neurology, University Hospital Ghent and University of Ghent, Ghent, Belgium.
De Bleecker J; Department of Neurology, University Hospital Ghent and University of Ghent, Ghent, Belgium.
Vandenbulcke M; Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Department of Old Age Psychiatry and Memory Clinic, University of Leuven, Leuven, Belgium.
Engelborghs S; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp Middelheim and Hoge Beuken, Antwerp, Belgium.
Baets J; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Cras P; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
Vandenberghe R; Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
De Jonghe P; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Neurogenetics Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
De Deyn PP; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp Middelheim and Hoge Beuken, Antwerp, Belgium.
Martin JJ; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Van Damme P; Department of Neurosciences, Faculty of Medicine, KU Leuven, Leuven, Belgium; Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address: .
van der Zee J; Neurodegenerative Brain Diseases Group, Center for Molecular Neurology, VIB, Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. Electronic address: .
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Corporate Authors :
Belgian Neurology consortium
Źródło :
Neurobiology of aging [Neurobiol Aging] 2017 Mar; Vol. 51, pp. 177.e9-177.e16. Date of Electronic Publication: 2016 Dec 21.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Mutation*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Mitochondrial Proteins/*genetics
Tubulin/*genetics
Aged ; Aged, 80 and over ; Belgium ; Cohort Studies ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation.
Autorzy :
Van den Bossche T; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Sleegers K; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Cuyvers E; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Engelborghs S; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Sieben A; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
De Roeck A; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Van Cauwenberghe C; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Vermeulen S; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Van den Broeck M; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Laureys A; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Peeters K; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Mattheijssens M; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Vandenbulcke M; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Vandenberghe R; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Martin JJ; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
De Deyn PP; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Cras P; From the Neurodegenerative Brain Diseases Group (T.V.d.B., K.S., E.C., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., C.V.B.), Department of Molecular Genetics, VIB, Antwerp; Institute Born-Bunge (T.V.d.B., K.S., E.C., S.E., A.S., A.D.R., C.V.C., S.V., M.V.d.B., A.L., K.P., M.M., J.-J.M., P.P.D.D., P.C., C.V.B.), University of Antwerp; Department of Neurology (T.V.d.B., P.C.), Antwerp University Hospital, Edegem; Department of Neurology and Memory Clinic (T.V.d.B., S.E., P.P.D.D.), Hospital Netwerk Antwerp (ZNA), Middelheim and Hoge Beuken; Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; Department of Neurosciences (M.V., R.V.), Faculty of Medicine, KU Leuven; Department of Old Age Psychiatry and Memory Clinic (M.V.) and Department of Neurology (R.V.), University Hospitals Leuven, Belgium; and Department of Neurology and Alzheimer Research Center (P.P.D.D.), University of Groningen and University Medical Center Groningen, the Netherlands.
Van Broeckhoven C
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Corporate Authors :
Belgian Neurology Consortium
Źródło :
Neurology [Neurology] 2016 Jun 07; Vol. 86 (23), pp. 2126-33. Date of Electronic Publication: 2016 Apr 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
ATP-Binding Cassette Transporters/*genetics
Alzheimer Disease/*genetics
Alzheimer Disease/*physiopathology
Age of Onset ; Aged ; Aged, 80 and over ; Alzheimer Disease/diagnostic imaging ; Alzheimer Disease/pathology ; Apolipoprotein E4/genetics ; Biomarkers/cerebrospinal fluid ; Brain/diagnostic imaging ; Brain/pathology ; Cerebrovascular Disorders/complications ; Cerebrovascular Disorders/diagnostic imaging ; Cerebrovascular Disorders/genetics ; Cerebrovascular Disorders/pathology ; Disease Progression ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Retrospective Studies
Czasopismo naukowe
Tytuł :
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Autorzy :
Luis E; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.; School of Education and Psychology, University of Navarra, Pamplona, Spain.
Ortiz A; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.
Eudave L; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.
Ortega-Cubero S; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.; CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain.
Borroni B; Centre for Aging Brain and Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy.
van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Gazzina S; Centre for Aging Brain and Neurodegenerative Disorders, Neurology Unit, University of Brescia, Brescia, Italy.
Caroppo P; Besta Neurological Institut, Milan, Italy.; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Universités, Université Pierre et Marie, Hôpital Pitié-Salpêtrière, Paris, France.
Rubino E; Università degli Studi di Torino, Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.
D'Agata F; Università degli Studi di Torino, Department of Neuroscience 'Rita Levi Montalcini', University of Turin, Turin, Italy.
Le Ber I; Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Universités, Université Pierre et Marie, Hôpital Pitié-Salpêtrière, Paris, France.
Santana I; Neurology Department, Centro Hospitalar e Universitério de Coimbra, Coimbra, Portugal and Faculty of Medicine, Coimbra University, Coimbra, Portugal.
Cunha G; Neurorradiology Department, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Almeida MR; Neurogenetics Laboratory, Center for Neuroscience and Cell Biology, University of Coimbra, Coimbra, Portugal.
Boutoleau-Bretonnière C; Claire Boutoleau-Bretonnière: Department of Neurology, CMRR, Nantes University Hospital, Nantes, France.
Hannequin D; Department of Genetics, Rouen University Hospital, Rouen, France.; Inserm U1079, Rouen University, IRIB, Normandy University, Rouen, France.; CNR-MAJ, Rouen University Hospital, Rouen, France.; Department of Neurology, Rouen University Hospital, Rouen, France.
Wallon D; Inserm U1079, Rouen University, IRIB, Normandy University, Rouen, France.; CNR-MAJ, Rouen University Hospital, Rouen, France.
Rainero I; Department of Neuroscience 'Rita Levi Montalcini', University of Torino, Turin, Italy.
Galimberti D; Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca' Granda, IRCCS Ospedale Policlinico, Milan, Italy.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
Pastor MA; Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain.; School of Education and Psychology, University of Navarra, Pamplona, Spain.; CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain.; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain.
Pastor P; Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.; CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain.; Memory and Movement Disorders Units, Department of Neurology, University Hospital Mutua de Terrassa, Terrassa, Barcelona, Spain.
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Źródło :
Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2016 May 07; Vol. 53 (1), pp. 303-13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Magnetic Resonance Imaging*
Brain/*diagnostic imaging
Frontotemporal Dementia/*diagnostic imaging
Frontotemporal Dementia/*genetics
Mutation/*genetics
Sequestosome-1 Protein/*genetics
Aged ; Aged, 80 and over ; Analysis of Variance ; C9orf72 Protein/metabolism ; Female ; Gray Matter/diagnostic imaging ; Humans ; Image Processing, Computer-Assisted ; Male ; Mental Status and Dementia Tests ; Middle Aged ; Statistics as Topic
Czasopismo naukowe
Tytuł :
Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G₄C₂) repeat expansion in C9orf72 gene.
Autorzy :
Almeida MR; CNC-Center for Neuroscience and Cell Biology, Neurogenetics Department, University of Coimbra, Portugal. Electronic address: .
Letra L; Neurology Department, Coimbra University Hospital, Coimbra, Portugal.
Pires P; Neurology Department, Hospital de Santo Espírito de Angra do Heroísmo, Azores, Portugal.
Santos A; CNC-Center for Neuroscience and Cell Biology, Neurogenetics Department, University of Coimbra, Portugal.
Rebelo O; Neuropathology Laboratory, Neurology Department, Coimbra University Hospital, Portugal.
Guerreiro R; Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK.
van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Institute Born-Bunge, Neurogenetics Department, University of Antwerp, Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerp, Belgium; Institute Born-Bunge, Neurogenetics Department, University of Antwerp, Antwerp, Belgium.
Santana I; CNC-Center for Neuroscience and Cell Biology, Neurogenetics Department, University of Coimbra, Portugal; Neurology Department, Coimbra University Hospital, Coimbra, Portugal.
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2016 Apr; Vol. 40, pp. 191.e1-191.e8. Date of Electronic Publication: 2015 Dec 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*
Mutation*
DNA Repeat Expansion/*genetics
Frontotemporal Dementia/*genetics
Osteitis Deformans/*genetics
Proteins/*genetics
Sequestosome-1 Protein/*genetics
Aged ; Aged, 80 and over ; C9orf72 Protein ; Female ; Frontotemporal Dementia/complications ; Humans ; Male ; Osteitis Deformans/complications
Czasopismo naukowe
Tytuł :
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Autorzy :
Gijselinck I; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Van Mossevelde S; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
van der Zee J; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Sieben A; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Philtjens S; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Heeman B; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Engelborghs S; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Vandenbulcke M; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
De Baets G; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Bäumer V; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Cuijt I; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Van den Broeck M; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Peeters K; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Mattheijssens M; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Rousseau F; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Vandenberghe R; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
De Jonghe P; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Cras P; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
De Deyn PP; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Martin JJ; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands.
Cruts M; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands. .
Van Broeckhoven C; From the Department of Molecular Genetics (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., M.C., C.V.B.), VIB, Antwerp; Institute Born-Bunge (I.G., S.V.M., J.v.d.Z., A.S., S.P., B.H., S.E., V.B., I.C., M.V.d.B., K.P., M.M., P.D.J., P.C., P.P.D.D., J.-J.M., M.C., C.V.B.), University of Antwerp; the Department of Neurology (A.S.), University Hospital Ghent and University of Ghent; the Department of Neurology and Memory Clinic (S.E., P.P.D.D.), Hospital Network Antwerp Middelheim and Hoge Beuken; the Brain and Emotion Laboratory, Department of Psychiatry (M.V.), SWITCH Laboratory, VIB (G.D.B., F.R.), and Laboratory for Cognitive Neurology, Department of Neurology (R.V.), University of Leuven; the Department of Neurology (M.V., R.V.), University Hospitals Leuven, Gasthuisberg; and the Department of Neurology (P.D.J., P.C.), Antwerp University Hospital, Edegem, Belgium. P.P.D.D. is also affiliated with the Department of Neurology and Alzheimer Research Center, University of Groningen and University Medical Center Groningen, the Netherlands. .
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Corporate Authors :
BELNEU Consortium
Źródło :
Neurology [Neurology] 2015 Dec 15; Vol. 85 (24), pp. 2116-25. Date of Electronic Publication: 2015 Nov 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Frontotemporal Dementia/*diagnosis
Frontotemporal Dementia/*genetics
Mutation/*genetics
Protein-Serine-Threonine Kinases/*deficiency
Protein-Serine-Threonine Kinases/*genetics
Adult ; Aged ; Aged, 80 and over ; Belgium/epidemiology ; Cohort Studies ; Female ; Frontotemporal Dementia/epidemiology ; Humans ; Male ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
Plasma phosphorylated TDP-43 levels are elevated in patients with frontotemporal dementia carrying a C9orf72 repeat expansion or a GRN mutation.
Autorzy :
Suárez-Calvet M; Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, , Barcelona, Spain.
Dols-Icardo O
Lladó A
Sánchez-Valle R
Hernández I
Amer G
Antón-Aguirre S
Alcolea D
Fortea J
Ferrer I
van der Zee J
Dillen L
Van Broeckhoven C
Molinuevo JL
Blesa R
Clarimón J
Lleó A
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Źródło :
Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2014 Jun; Vol. 85 (6), pp. 684-91. Date of Electronic Publication: 2013 Dec 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Repeat Expansion*
Mutation*
DNA-Binding Proteins/*blood
Frontotemporal Dementia/*blood
Frontotemporal Dementia/*genetics
Intercellular Signaling Peptides and Proteins/*genetics
Proteins/*genetics
Aged ; Aged, 80 and over ; Blotting, Southern ; Brain/metabolism ; C9orf72 Protein ; Case-Control Studies ; DNA-Binding Proteins/cerebrospinal fluid ; DNA-Binding Proteins/metabolism ; Enzyme-Linked Immunosorbent Assay ; Female ; Frontotemporal Dementia/metabolism ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Phosphorylation ; Progranulins ; Protein Precursors/genetics
Czasopismo naukowe
Tytuł :
Dementia in 2013: frontotemporal lobar degeneration-building on breakthroughs.
Autorzy :
van der Zee J; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium.
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB and Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium.
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Źródło :
Nature reviews. Neurology [Nat Rev Neurol] 2014 Feb; Vol. 10 (2), pp. 70-2. Date of Electronic Publication: 2014 Jan 07.
Typ publikacji :
Historical Article; Journal Article; Review
MeSH Terms :
Frontotemporal Lobar Degeneration/*genetics
Mutation/*genetics
Proteins/*genetics
C9orf72 Protein ; DNA-Binding Proteins/genetics ; Dementia/genetics ; Dementia/history ; Genetic Association Studies ; History, 21st Century ; Humans ; Intercellular Signaling Peptides and Proteins/genetics ; Progranulins ; tau Proteins/genetics
Czasopismo naukowe
Tytuł :
Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.
Autorzy :
De Brabander I; Laboratory of Neurochemistry and Behavior, Institute Born-Bunge, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium.
Yperzeele L
Ceuterick-De Groote C
Brouns R
Baker R
Belachew S
Delbecq J
De Keulenaer G
Dethy S
Eyskens F
Fumal A
Hemelsoet D
Hughes D
Jeangette S
Nuytten D
Redondo P
Sadzot B
Sindic C
Sheorajpanday R
Thijs V
Van Broeckhoven C
De Deyn PP
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Źródło :
Clinical neurology and neurosurgery [Clin Neurol Neurosurg] 2013 Jul; Vol. 115 (7), pp. 1088-93. Date of Electronic Publication: 2012 Dec 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Fabry Disease/*genetics
Mutation/*genetics
Stroke/*genetics
alpha-Galactosidase/*genetics
Adult ; Belgium/epidemiology ; Echocardiography ; Electrocardiography ; Fabry Disease/epidemiology ; Female ; Genetic Testing ; Glycolipids/blood ; Glycolipids/urine ; Humans ; Male ; Mutation/physiology ; Phenotype ; Skin/pathology ; Sphingolipids/blood ; Sphingolipids/urine ; Stroke/epidemiology ; Trihexosylceramides/blood ; Trihexosylceramides/urine ; Vertebrobasilar Insufficiency/pathology ; Young Adult ; alpha-Galactosidase/blood ; alpha-Galactosidase/urine
Czasopismo naukowe
Tytuł :
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
Autorzy :
Nalls MA; Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.
Duran R
Lopez G
Kurzawa-Akanbi M
McKeith IG
Chinnery PF
Morris CM
Theuns J
Crosiers D
Cras P
Engelborghs S
De Deyn PP
Van Broeckhoven C
Mann DM
Snowden J
Pickering-Brown S
Halliwell N
Davidson Y
Gibbons L
Harris J
Sheerin UM
Bras J
Hardy J
Clark L
Marder K
Honig LS
Berg D
Maetzler W
Brockmann K
Gasser T
Novellino F
Quattrone A
Annesi G
De Marco EV
Rogaeva E
Masellis M
Black SE
Bilbao JM
Foroud T
Ghetti B
Nichols WC
Pankratz N
Halliday G
Lesage S
Klebe S
Durr A
Duyckaerts C
Brice A
Giasson BI
Trojanowski JQ
Hurtig HI
Tayebi N
Landazabal C
Knight MA
Keller M
Singleton AB
Wolfsberg TG
Sidransky E
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Źródło :
JAMA neurology [JAMA Neurol] 2013 Jun; Vol. 70 (6), pp. 727-35.
Typ publikacji :
Journal Article; Meta-Analysis; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Glucosylceramidase/*genetics
Lewy Body Disease/*diagnosis
Lewy Body Disease/*genetics
Mutation/*genetics
Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Genetic Association Studies/methods ; Genotype ; Humans ; Lewy Body Disease/epidemiology ; Male ; Middle Aged ; Risk Factors
Czasopismo naukowe
Tytuł :
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Autorzy :
Sharma M; Department. of Neurodegenerative diseases, Hertie-Institute for Clinical Brain Research and DZNE- German Center for Neurodegenerative Diseases, Tübingen, Hoppe-Seyler-Str. 3, Tübingen 72076, Germany.
Ioannidis JP
Aasly JO
Annesi G
Brice A
Bertram L
Bozi M
Barcikowska M
Crosiers D
Clarke CE
Facheris MF
Farrer M
Garraux G
Gispert S
Auburger G
Vilariño-Güell C
Hadjigeorgiou GM
Hicks AA
Hattori N
Jeon BS
Jamrozik Z
Krygowska-Wajs A
Lesage S
Lill CM
Lin JJ
Lynch T
Lichtner P
Lang AE
Libioulle C
Murata M
Mok V
Jasinska-Myga B
Mellick GD
Morrison KE
Meitnger T
Zimprich A
Opala G
Pramstaller PP
Pichler I
Park SS
Quattrone A
Rogaeva E
Ross OA
Stefanis L
Stockton JD
Satake W
Silburn PA
Strom TM
Theuns J
Tan EK
Toda T
Tomiyama H
Uitti RJ
Van Broeckhoven C
Wirdefeldt K
Wszolek Z
Xiromerisiou G
Yomono HS
Yueh KC
Zhao Y
Gasser T
Maraganore D
Krüger R
Pokaż więcej
Corporate Authors :
GEOPD consortium
Źródło :
Journal of medical genetics [J Med Genet] 2012 Nov; Vol. 49 (11), pp. 721-6.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Parkinson Disease/*genetics
Vesicular Transport Proteins/*genetics
Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Risk Factors ; Vesicular Transport Proteins/metabolism
Czasopismo naukowe
Tytuł :
Locus-specific mutation databases for neurodegenerative brain diseases.
Autorzy :
Cruts M; Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium. />Theuns J
Van Broeckhoven C
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Źródło :
Human mutation [Hum Mutat] 2012 Sep; Vol. 33 (9), pp. 1340-4. Date of Electronic Publication: 2012 Jul 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Genetic*
Genetic Loci*
Mutation*
Neurodegenerative Diseases/*genetics
Alzheimer Disease/diagnosis ; Alzheimer Disease/genetics ; Frontotemporal Lobar Degeneration/diagnosis ; Frontotemporal Lobar Degeneration/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genome, Human ; Humans ; Neurodegenerative Diseases/diagnosis ; Parkinson Disease/diagnosis ; Parkinson Disease/genetics
Czasopismo naukowe
Tytuł :
Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis.
Autorzy :
Bogaert E; Laboratory for Neurobiology, Experimental Neurology, University of Leuven, Leuven, Belgium.
Goris A
Van Damme P
Geelen V
Lemmens R
van Es MA
van den Berg LH
Sleegers K
Verpoorten N
Timmerman V
De Jonghe P
Van Broeckhoven C
Traynor BJ
Landers JE
Brown RH Jr
Glass JD
Al-Chalabi A
Shaw CE
Birve A
Andersen PM
Slowik A
Tomik B
Melki J
Robberecht W
Van Den Bosch L
Pokaż więcej
Źródło :
Neurobiology of aging [Neurobiol Aging] 2012 Feb; Vol. 33 (2), pp. 418-20. Date of Electronic Publication: 2010 Apr 20.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis/*genetics
Genetic Predisposition to Disease/*epidemiology
Genetic Predisposition to Disease/*genetics
Mutation/*genetics
Polymorphism, Single Nucleotide/*genetics
Receptors, AMPA/*genetics
Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/epidemiology ; Belgium/epidemiology ; Genetic Association Studies ; Humans ; Middle Aged ; Prevalence ; Risk Assessment ; Risk Factors
Czasopismo naukowe
Tytuł :
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Autorzy :
Nosková L; Institute for Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.
Stránecký V
Hartmannová H
Přistoupilová A
Barešová V
Ivánek R
Hůlková H
Jahnová H
van der Zee J
Staropoli JF
Sims KB
Tyynelä J
Van Broeckhoven C
Nijssen PC
Mole SE
Elleder M
Kmoch S
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2011 Aug 12; Vol. 89 (2), pp. 241-52. Date of Electronic Publication: 2011 Aug 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Dominant/*genetics
HSP40 Heat-Shock Proteins/*genetics
Membrane Proteins/*genetics
Mutation/*genetics
Neuronal Ceroid-Lipofuscinoses/*epidemiology
Neuronal Ceroid-Lipofuscinoses/*genetics
Adult ; Age of Onset ; Base Sequence ; Brain/metabolism ; Brain/pathology ; Brain/ultrastructure ; Chromosome Segregation/genetics ; Exons/genetics ; Family ; Female ; Gene Dosage/genetics ; Gene Expression Regulation ; Genetic Linkage ; Humans ; Lipoylation ; Lysosomes/metabolism ; Lysosomes/ultrastructure ; Male ; Molecular Sequence Data ; Neuronal Ceroid-Lipofuscinoses/pathology ; Neurons/metabolism ; Neurons/pathology ; Neurons/ultrastructure ; Pedigree ; Protein Transport ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.
Autorzy :
Chen-Plotkin AS; Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, 19104, USA. />Martinez-Lage M
Sleiman PM
Hu W
Greene R
Wood EM
Bing S
Grossman M
Schellenberg GD
Hatanpaa KJ
Weiner MF
White CL 3rd
Brooks WS
Halliday GM
Kril JJ
Gearing M
Beach TG
Graff-Radford NR
Dickson DW
Rademakers R
Boeve BF
Pickering-Brown SM
Snowden J
van Swieten JC
Heutink P
Seelaar H
Murrell JR
Ghetti B
Spina S
Grafman J
Kaye JA
Woltjer RL
Mesulam M
Bigio E
Lladó A
Miller BL
Alzualde A
Moreno F
Rohrer JD
Mackenzie IR
Feldman HH
Hamilton RL
Cruts M
Engelborghs S
De Deyn PP
Van Broeckhoven C
Bird TD
Cairns NJ
Goate A
Frosch MP
Riederer PF
Bogdanovic N
Lee VM
Trojanowski JQ
Van Deerlin VM
Pokaż więcej
Źródło :
Archives of neurology [Arch Neurol] 2011 Apr; Vol. 68 (4), pp. 488-97.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Frontotemporal Lobar Degeneration/*diagnosis
Frontotemporal Lobar Degeneration/*genetics
Intercellular Signaling Peptides and Proteins/*genetics
Mutation/*genetics
Protein Precursors/*genetics
Aged ; Female ; Genetic Markers/genetics ; Humans ; Male ; Middle Aged ; Parkinsonian Disorders/genetics ; Progranulins
Czasopismo naukowe

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