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1. Full Text Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
by van der Zee, Julie and Van Langenhove, Tim and Kovacs, Gabor G and Dillen, Lubina and Deschamps, William and Engelborghs, Sebastiaan and Matěj, Radoslav and Vandenbulcke, Mathieu and Sieben, Anne and Dermaut, Bart and Smets, Katrien and Van Damme, Philip and Merlin, Céline and Laureys, Annelies and Van Den Broeck, Marleen and Mattheijssens, Maria and Peeters, Karin and Benussi, Luisa and Binetti, Giuliano and Ghidoni, Roberta and Borroni, Barbara and Padovani, Alessandro and Archetti, Silvana and Pastor, Pau and Razquin, Cristina and Ortega-Cubero, Sara and Hernández, Isabel and Boada, Mercè and Ruiz, Agustín and de Mendonça, Alexandre and Miltenberger-Miltényi, Gabriel and do Couto, Frederico Simões and Sorbi, Sandro and Nacmias, Benedetta and Bagnoli, Silvia and Graff, Caroline and Chiang, Huei-Hsin and Thonberg, Håkan and Perneczky, Robert and Diehl-Schmid, Janine and Alexopoulos, Panagiotis and Frisoni, Giovanni B and Bonvicini, Christian and Synofzik, Matthis and Maetzler, Walter and vom Hagen, Jennifer Müller and Schöls, Ludger and Haack, Tobias B and Strom, Tim M and Prokisch, Holger and Dols-Icardo, Oriol and Clarimón, Jordi and Lleó, Alberto and Santana, Isabel and Almeida, Maria Rosário and Santiago, Beatriz and Heneka, Michael T and Jessen, Frank and Ramirez, Alfredo and Sanchez-Valle, Raquel and Llado, Albert and Gelpi, Ellen and Sarafov, Stayko and Tournev, Ivailo and Jordanova, Albena and Parobkova, Eva and Fabrizi, Gian Maria and Testi, Silvia and Salmon, Eric and Ströbel, Thomas and Santens, Patrick and Robberecht, Wim and De Jonghe, Peter and Martin, Jean-Jacques and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter Paul and Cruts, Marc and Sleegers, Kristel and Van Broeckhoven, Christine
Acta Neuropathologica, ISSN 0001-6322, 9/2014, Volume 128, Issue 3, pp. 397 - 410
Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone.... 
Pathology | Neurosciences | Medicine & Public Health | FTLD | Rare variants | ALS | Sequestosome 1 | SQSTM1 | p62 | DEMENTIA | GLIAL INCLUSIONS | AMYOTROPHIC-LATERAL-SCLEROSIS | PATHOLOGY | BINDING PROTEIN | NEUROSCIENCES | PAGET-DISEASE | CLINICAL NEUROLOGY | GENE | DIPEPTIDE-REPEAT PROTEINS | BONE | DIAGNOSTIC-CRITERIA | Frontotemporal Lobar Degeneration - pathology | Genetic Predisposition to Disease - genetics | Meta-Analysis as Topic | Sequestosome-1 Protein | Europe | Humans | Middle Aged | Male | International Cooperation | DNA-Binding Proteins - genetics | Amyotrophic Lateral Sclerosis | Animals | DNA Mutational Analysis | Adaptor Proteins, Signal Transducing - genetics | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Physiological aspects | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Population genetics | Analysis | Original Paper
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2. Full Text Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study
by Cuyvers, Elise, MSc and De Roeck, Arne, MSc and Van den Bossche, Tobi, MD and Van Cauwenberghe, Caroline, MSc and Bettens, Karolien, PhD and Vermeulen, Steven, MSc and Mattheijssens, Maria, BSc and Peeters, Karin, BSc and Engelborghs, Sebastiaan, Prof and Vandenbulcke, Mathieu, Prof and Vandenberghe, Rik, Prof and De Deyn, Peter P, Prof and Van Broeckhoven, Christine, Prof and Sleegers, Kristel, Prof
Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 8, pp. 814 - 822
Summary Background ABCA7 was identified as a risk gene for Alzheimer's disease in genome-wide association studies (GWAS). It was one of the genes most strongly... 
Neurology | COMMON VARIANTS | DIAGNOSIS | IDENTIFIES VARIANTS | NATIONAL INSTITUTE | GUIDELINES | LOCI | RELEASE | CLU | EXPRESSION | CLINICAL NEUROLOGY | GENOME-WIDE ASSOCIATION | Gene Frequency - genetics | Genome-Wide Association Study | Humans | Middle Aged | Male | ATP-Binding Cassette Transporters - genetics | Belgium | Aged, 80 and over | Female | Aged | Polymorphism, Single Nucleotide | Mutation | Alzheimer Disease - genetics | Sequence Analysis, DNA - methods | Cohort Studies | Medical research | Analysis | Genomics | Genetic research | Medicine, Experimental | Genetic aspects | Alzheimer's disease | Alzheimers disease | Genes | Quality of life
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3. Full Text A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study
by Gijselinck, Ilse, PhD and Van Langenhove, Tim, MD and van der Zee, Julie, PhD and Sleegers, Kristel, PhD and Philtjens, Stéphanie, MSc and Kleinberger, Gernot, MSc and Janssens, Jonathan, MSc and Bettens, Karolien, PhD and Van Cauwenberghe, Caroline, MSc and Pereson, Sandra, MSc and Engelborghs, Sebastiaan, Prof and Sieben, Anne, MD and De Jonghe, Peter, Prof and Vandenberghe, Rik, Prof and Santens, Patrick, Prof and De Bleecker, Jan, Prof and Maes, Githa, MSc and Bäumer, Veerle, BSc and Dillen, Lubina, PhD and Joris, Geert, BSc and Cuijt, Ivy, MSc and Corsmit, Ellen, BSc and Elinck, Ellen, MSc and Van Dongen, Jasper, BSc and Vermeulen, Steven, MSc and Van den Broeck, Marleen, BSc and Vaerenberg, Carolien, MSc and Mattheijssens, Maria, BSc and Peeters, Karin, BSc and Robberecht, Wim, Prof and Cras, Patrick, Prof and Martin, Jean-Jacques, Prof and De Deyn, Peter P, Prof and Cruts, Marc, Prof and Van Broeckhoven, Christine, Prof
Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 1, pp. 54 - 65
Summary Background Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are extremes of a clinically, pathologically, and... 
Neurology | DEMENTIA | FAMILIES | TDP-43 | SUSCEPTIBILITY | ALS | PREVALENCE | MUTATIONS | LINKAGE | HEXANUCLEOTIDE REPEAT | LOCUS | CLINICAL NEUROLOGY | Promoter Regions, Genetic | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Genotype | Male | Chromosomes, Human, Pair 9 | Genetic Loci | DNA Repeat Expansion | DNA Mutational Analysis | Age of Onset | Adult | Female | Aged | Polymorphism, Single Nucleotide | Frontotemporal Lobar Degeneration - genetics | Cohort Studies | Medical research | Molecular genetics | Analysis | Genes | Genetic research | Medicine, Experimental | Amyotrophic lateral sclerosis | Genetic aspects | Brain | haploinsufficiency | Genotyping | genomics | Single-nucleotide polymorphism | Mutation | Frontotemporal dementia | chromosome 9 | Age | Promoters
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4. Full Text Serum biomarker for progranulin‐associated frontotemporal lobar degeneration
by Sleegers, Kristel and Brouwers, Nathalie and Van Damme, Philip and Engelborghs, Sebastiaan and Gijselinck, Ilse and van der Zee, Julie and Peeters, Karin and Mattheijssens, Maria and Cruts, Marc and Vandenberghe, Rik and De Deyn, Peter P and Robberecht, Wim and Van Broeckhoven, Christine
Annals of Neurology, ISSN 0364-5134, 05/2009, Volume 65, Issue 5, pp. 603 - 609
Objective Mutations that lead to a loss of progranulin (PGRN) explain a considerable portion of the occurrence of frontotemporal lobar degeneration. We tested... 
VARIABILITY | CRITERIA | MISSENSE | DEMENTIA | CHROMOSOME-17 | DISEASE | ALZHEIMER | CONSENSUS | TAU | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Enzyme-Linked Immunosorbent Assay - methods | Humans | Middle Aged | Intercellular Signaling Peptides and Proteins - genetics | Male | Biomarkers - blood | Dementia - genetics | Mutation, Missense - genetics | Cysteine - genetics | Intercellular Signaling Peptides and Proteins - blood | Arginine - genetics | Aged, 80 and over | Female | Aged | Dementia - blood
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5. Full Text Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk
by Bettens, Karolien and Brouwers, Nathalie and Engelborghs, Sebastiaan and Lambert, Jean-Charles and Rogaeva, Ekaterina and Vandenberghe, Rik and Le Bastard, Nathalie and Pasquier, Florence and Vermeulen, Steven and Van Dongen, Jasper and Mattheijssens, Maria and Peeters, Karin and Mayeux, Richard and St George-Hyslop, Peter and Amouyel, Philippe and De Deyn, Peter P and Sleegers, Kristel and Van Broeckhoven, Christine
Molecular neurodegeneration, ISSN 1750-1326, 2012, Volume 7, Issue 1, pp. 3 - 3
Background: We have followed-up on the recent genome-wide association (GWA) of the clusterin gene (CLU) with increased risk for Alzheimer disease (AD), by... 
insertions/deletions | CLEARANCE | clusterin gene (CLU) | Alzheimer disease | GENOTYPE | meta-analysis | LOCI | NEUROSCIENCES | APOLIPOPROTEIN-E | beta?beta?-chain domain | IDENTIFIES VARIANTS | GENE | DISEASE | non-synonymous substitutions | genomic resequencing | GENOME-WIDE ASSOCIATION | PICALM | Sequence Deletion | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Clusterin - genetics | Exons | Gene Frequency | Humans | Middle Aged | Risk Factors | Genotype | Male | Chromosome Mapping | Genetic Variation | Canada | Alleles | Aged, 80 and over | Female | Aged | Mutagenesis, Insertional | Polymorphism, Single Nucleotide | Alzheimer Disease - genetics | Cohort Studies | Genetic aspects | Research | Single nucleotide polymorphisms | Alzheimer's disease | Risk factors | Proteins | Confidence intervals | Medical research | Brain | Hospitals | Colleges & universities | Genetics | Genomes | Standard deviation | Apolipoproteins | Manuscripts | Brain diseases | Life Sciences | Neurons and Cognition | β-chain domain
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6. Full Text Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
by Cruts, Marc and Gijselinck, Ilse and Van Der Zee, Julie and Engelborghs, Sebastiaan and Wils, Hans and Pirici, Daniel and Rademakers, Rosa and Vandenberghe, Rik and Dermaut, Bart and Martin, Jean-Jacques and Van Duijn, Cornelia and Peeters, Karin and Sciot, Raf and Santens, Patrick and De Pooter, Tim and Mattheijssens, Maria and Van Den Broeck, Marleen and Cuijt, Ivy and Vennekens, Krist'l and De Deyn, Peter P and Kumar-Singh, Samir and Van Broeckhoven, Christine
Nature, ISSN 0028-0836, 08/2006, Volume 442, Issue 7105, pp. 920 - 924
Frontotemporal dementia (FTD) with ubiquitin-immunoreactive neuronal inclusions ( both cytoplasmic and nuclear) of unknown nature has been linked to a... 
VALOSIN-CONTAINING PROTEIN | LOBAR DEGENERATION | INCLUSIONS | GRANULIN | GENE | MULTIDISCIPLINARY SCIENCES | PICKS-DISEASE | TAU | GROWTH-FACTOR | EXPRESSION | FAMILY | Frontal Lobe - metabolism | RNA Splice Sites - genetics | Physical Chromosome Mapping | Frontal Lobe - physiopathology | Humans | Intercellular Signaling Peptides and Proteins - genetics | Ubiquitin - metabolism | Dementia - physiopathology | Dementia - genetics | Mutation - genetics | Temporal Lobe - metabolism | Chromosomes, Human, Pair 17 - genetics | Temporal Lobe - physiopathology | Belgium | DNA Mutational Analysis | Genetic Linkage - genetics | Intercellular Signaling Peptides and Proteins - deficiency | Brain | Pathology | Brain research | Neurons | Mutation | Chromosomes | Dementia
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7. Full Text Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
by Gijselinck, Ilse and Van Mossevelde, Sara and van der Zee, Julie and Sieben, Anne and Philtjens, Stephanie and Heeman, Bavo and Engelborghs, Sebastiaan and Vandenbulcke, Mathieu and De Baets, Greet and Baumer, Veerle and Cuijt, Ivy and Van den Broeck, Marleen and Peeters, Karin and Mattheijssens, Maria and Rousseau, Frederic and Vandenberghe, Rik and De Jonghe, Peter and Cras, Patrick and De Deyn, Peter P and Martin, Jean-Jacques and Cruts, Marc and Van Broeckhoven, Christine and BELNEU Consortium
Neurology, ISSN 0028-3878, 12/2015, Volume 85, Issue 24, pp. 2116 - 2125
Objective:To assess the genetic contribution of TBK1, a gene implicated in amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in... 
REPEAT EXPANSION | LOBAR DEGENERATION | CRYSTAL-STRUCTURE | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | BINDING KINASE 1 | OPTINEURIN | HEXANUCLEOTIDE REPEAT | C9ORF72 | SQSTM1 MUTATIONS | ACTIVATION | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Protein-Serine-Threonine Kinases - deficiency | Belgium - epidemiology | Humans | Middle Aged | Protein-Serine-Threonine Kinases - genetics | Male | Frontotemporal Dementia - diagnosis | Mutation - genetics | Pedigree | Aged, 80 and over | Adult | Female | Aged | Frontotemporal Dementia - epidemiology | Cohort Studies
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8. Full Text Investigating the role of rare heterozygous TREM2 variants in Alzheimer's disease and frontotemporal dementia
by Cuyvers, Elise and Bettens, Karolien and Philtjens, Stéphanie and Van Langenhove, Tim and Gijselinck, Ilse and van der Zee, Julie and Engelborghs, Sebastiaan and Vandenbulcke, Mathieu and Van Dongen, Jasper and Geerts, Nathalie and Maes, Githa and Mattheijssens, Maria and Peeters, Karin and Cras, Patrick and Vandenberghe, Rik and De Deyn, Peter P and Van Broeckhoven, Christine and Cruts, Marc and Sleegers, Kristel and BELNEU Consortium and BELNEU consortium
Neurobiology of Aging, ISSN 0197-4580, 2014, Volume 35, Issue 3, pp. 726.e11 - 726.e19
Abstract Homozygous mutations in exon 2 of TREM2 , a gene involved in Nasu-Hakola disease, can cause frontotemporal dementia (FTD). Moreover, a rare TREM2 exon... 
Neurology | Internal Medicine | TREM2 | Frontotemporal dementia | Alzheimer's disease | Rare variants | Meta-analysis | IgV-set domain | NASU-HAKOLA-DISEASE | BONE-CYSTS | DAP12 | ASSOCIATION | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | Frontotemporal Dementia - genetics | Meta-Analysis as Topic | Prospective Studies | Belgium - epidemiology | Humans | Middle Aged | Male | Membrane Glycoproteins - genetics | Genetic Variation | Aged, 80 and over | Alzheimer Disease - epidemiology | Female | Heterozygote | Aged | Alzheimer Disease - genetics | Receptors, Immunologic - genetics | Frontotemporal Dementia - epidemiology | Cohort Studies | Medical research | Molecular genetics | Analysis | Amyloid beta-protein | Medicine, Experimental | Apolipoproteins | Investigations
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9. Full Text Identification of rare copy number variants in high burden schizophrenia families
by Van Den Bossche, Maarten J and Strazisar, Mojca and Cammaerts, Sophia and Liekens, Anthony M and Vandeweyer, Geert and Depreeuw, Veerle and Mattheijssens, Maria and Lenaerts, An‐Sofie and De Zutter, Sonia and De Rijk, Peter and Sabbe, Bernard and Del‐Favero, Jurgen
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, ISSN 1552-4841, 04/2013, Volume 162, Issue 3, pp. 273 - 282
Over the last years, genome‐wide studies consistently showed an increased burden of rare copy number variants (CNVs) in schizophrenia patients, supporting the... 
family study | copy number variants | schizophrenia | rare genetic variants | translational genetics | Schizophrenia | Rare genetic variants | Family study | Copy number variants | Translational genetics | D5 RECEPTOR GENE | PSYCHIATRY | ALPHA-NEUREXINS | BIPOLAR DISORDER | CHOLINERGIC INTERNEURONS | GENETICS & HEREDITY | DOPAMINE | NEURONS | COMMON | ASSOCIATION | DELETIONS | STRIATUM | Genetic Predisposition to Disease | Genome-Wide Association Study | Protein Biosynthesis | Membrane Proteins - genetics | Humans | Middle Aged | Family Health | Male | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | DNA Copy Number Variations | Genetic Variation | Muscle Proteins - genetics | Schizophrenia - genetics | Pedigree | Adult | Female | Aged | Receptors, Dopamine D5 - genetics | Development and progression | Genomics | Medical genetics | Dopamine receptors | Data processing
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10. Full Text C9orf72 G(4)C(2) repeat expansions in Alzheimer's disease and mild cognitive impairment
by Cacace, Rita and Van Cauwenberghe, Caroline and Bettens, Karolien and Gijselinck, Ilse and van der Zee, Julie and Engelborghs, Sebastiaan and Vandenbulcke, Mathieu and Van Dongen, Jasper and Baumer, Veerle and Dillen, Lubina and Mattheijssens, Maria and Peeters, Karin and Cruts, Marc and Vandenberghe, Rik and De Deyn, Peter P and Van Broeckhoven, Christine and Sleegers, Kristel
Neurobiology of Aging, ISSN 0197-4580, 06/2013, Volume 34, Issue 6
C9orf72 G(4)C(2) repeat expansion is a major cause of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Its role in Alzheimer's disease (AD)... 
Genetic association study | GC repeat expansion | SUSCEPTIBILITY LOCI | VARIANT FRONTOTEMPORAL DEMENTIA | DISORDERS | AMYOTROPHIC-LATERAL-SCLEROSIS | FEATURES | MCI | GGGGCC HEXANUCLEOTIDE REPEAT | MUTATION | BEHAVIORAL VARIANT | FOUNDER | C9orf72 | GENOME-WIDE ASSOCIATION | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | GENE
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11. Full Text Mutations in glucocerebrosidase are a major genetic risk factor for Parkinson's disease and increase susceptibility to dementia in a Flanders-Belgian cohort
by Crosiers, David and Verstraeten, Aline and Wauters, Eline and Engelborghs, Sebastiaan and Peeters, Karin and Mattheijssens, Maria and De Deyn, Peter P and Theuns, Jessie and Van Broeckhoven, Christine and Cras, Patrick
Neuroscience Letters, ISSN 0304-3940, 08/2016, Volume 629, pp. 160 - 164
Objective To investigate the frequency of glucocerebrosidase (GBA) mutations in a Flanders-Belgian Parkinson's disease (PD) patient cohort and to assess... 
Glucocerebrosidase | Genotype-phenotype correlation | Parkinson's disease | GBA | DISORDER | VPS35 | PATHOLOGY | PROTEINS | NEUROSCIENCES | ONSET | GAUCHERS-DISEASE | TOOL | Severity of Illness Index | Parkinson Disease - complications | Genetic Predisposition to Disease | Glucosylceramidase - genetics | Genetic Association Studies | Exons | Humans | Middle Aged | Risk Factors | Male | Parkinson Disease - genetics | Dementia - genetics | Phenotype | Belgium | Dementia - complications | Female | Heterozygote | Aged | Mutation | Cohort Studies | Enzymes | Hydrolases | Genetic aspects | Disease susceptibility | Risk factors | Dementia | Medical research | Molecular genetics | Medicine, Experimental
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12. Full Text Clinical Evidence of Disease Anticipation in Families Segregating a C9orf72 Repeat Expansion
by Van Mossevelde, Sara and van der Zee, Julie and Gijselinck, Ilse and Sleegers, Kristel and De Bleecker, Jan and Sieben, Anne and Vandenberghe, Rik and Van Langenhove, Tim and Baets, Jonathan and Deryck, Olivier and Santens, Patrick and Ivanoiu, Adrian and Willems, Christiana and Bäumer, Veerle and Van den Broeck, Marleen and Peeters, Karin and Mattheijssens, Maria and De Jonghe, Peter and Cras, Patrick and Martin, Jean-Jacques and Cruts, Marc and De Deyn, Peter P and Engelborghs, Sebastiaan and Van Broeckhoven, Christine and Belgian Neurology BELNEU Consorti and Belgian Neurology (BELNEU) Consortium and for the Belgian Neurology (BELNEU) Consortium
JAMA Neurology, ISSN 2168-6149, 04/2017, Volume 74, Issue 4, pp. 445 - 452
IMPORTANCE: Patients carrying a C9orf72 repeat expansion leading to frontotemporal dementia and/or amyotrophic lateral sclerosis have highly variable ages at... 
CRITERIA | DIAGNOSIS | GGGGCC HEXANUCLEOTIDE REPEAT | ALZHEIMERS-DISEASE | FRONTOTEMPORAL DEMENTIA | SIZE | ALS | AMYOTROPHIC-LATERAL-SCLEROSIS | SPECTRUM | HUNTINGTON DISEASE | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Proportional Hazards Models | Male | Proteins - genetics | Pedigree | Age of Onset | Female | Aged | C9orf72 Protein | Cohort Studies
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