Lancet Neurology, The, ISSN 1474-4422, 2012, Volume 11, Issue 4, pp. 323 - 330
Summary Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large...
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Neurology | PREVALENCE | MUTATIONS | LOBAR DEGENERATION | GENETICS | TDP-43 | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | DNA Repeat Expansion - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Middle Aged | Child, Preschool | Genotype | Male | Genetic Loci | Open Reading Frames - genetics | Young Adult | Chromosomes, Human, Pair 9 - genetics | Adolescent | Age of Onset | Aged, 80 and over | Adult | Female | Aged | Child | Cohort Studies | Medical research | Medical colleges | Care and treatment | Nervous system diseases | Neurosciences | Molecular genetics | Oncology, Experimental | Questions and answers | Amyotrophic lateral sclerosis | Research | Medicine, Experimental | Agriculture | Physicians (General practice) | Alzheimer's disease | Dementia | Cancer | Biomedical engineering | Haplotypes | Polymerase chain reaction | Neurodegenerative diseases | Ethnic groups | Data processing | Mutation | Frontotemporal dementia | Genetic counselling | Islands | Age | Toll-Like Receptor 4 | Open Reading Frames | Adaptor Proteins, Vesicular Transport | Lipopolysaccharides | Life Sciences | DNA Repeat Expansion | Interferon Regulatory Factor-3 | Transfection | Amyotrophic Lateral Sclerosis | RNA Interference | HEK293 Cells | Membrane Glycoproteins | Vesicular Transport Proteins | Protein Structure, Tertiary | Cell Line | Chemokine CCL5 | Frontotemporal Dementia | Signal Transduction | Myeloid Differentiation Factor 88 | Chromosomes, Human, Pair 9 | Protein Transport | Adaptor Proteins, Signal Transducing | Santé publique et épidémiologie | RNA, Small Interfering | Endosomes | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Lancet Neurology, The, ISSN 1474-4422, 2014, Volume 13, Issue 7, pp. 686 - 699
Summary Background Frontotemporal dementia (FTD) is a complex disorder characterised by a broad range of clinical manifestations, differential pathological...
Neurology | GENETIC-VARIATION | COMMON VARIANTS | PROTEIN | LOBAR DEGENERATION | DISEASE | SUSCEPTIBILITY LOCI | RISK | MUTATIONS | HEXANUCLEOTIDE REPEAT | BRAIN | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Humans | Middle Aged | Aged, 80 and over | Adult | Female | Genotype | Male | Aged | Frontotemporal Dementia - diagnosis | Genome-Wide Association Study - methods | Frontotemporal Dementia - classification | Genetic research | Genomics | Dementia | Genealogy | Principal components analysis | Genomes | Patients | Proteins | Studies | Pathology | Semantics | Consent | Quality control | Aging | Aphasia | DNA methylation | Mutation | Genetic testing | Chromosomes | Deoxyribonucleic acid--DNA | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Neurology | GENETIC-VARIATION | COMMON VARIANTS | PROTEIN | LOBAR DEGENERATION | DISEASE | SUSCEPTIBILITY LOCI | RISK | MUTATIONS | HEXANUCLEOTIDE REPEAT | BRAIN | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Humans | Middle Aged | Aged, 80 and over | Adult | Female | Genotype | Male | Aged | Frontotemporal Dementia - diagnosis | Genome-Wide Association Study - methods | Frontotemporal Dementia - classification | Genetic research | Genomics | Dementia | Genealogy | Principal components analysis | Genomes | Patients | Proteins | Studies | Pathology | Semantics | Consent | Quality control | Aging | Aphasia | DNA methylation | Mutation | Genetic testing | Chromosomes | Deoxyribonucleic acid--DNA | Neurologi | Clinical Medicine | Medical and Health Sciences | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
The Lancet Neurology, ISSN 1474-4422, 2015, Volume 14, Issue 3, pp. 253 - 262
Summary Background Frontotemporal dementia is a highly heritable neurodegenerative disorder. In about a third of patients, the disease is caused by autosomal...
Neurology | PROGRANULIN MUTATION CARRIERS | REPEAT EXPANSION | LOBAR DEGENERATION | NETWORK CONNECTIVITY | ATROPHY | ALZHEIMERS-DISEASE | TAU | BEHAVIORAL VARIANT | C9ORF72 | PROGRESSION | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | Humans | Middle Aged | Male | Cognition Disorders - genetics | Frontotemporal Dementia - psychology | Asymptomatic Diseases | Frontotemporal Dementia - diagnosis | Mutation - genetics | Neuropsychological Tests | Cognition Disorders - diagnosis | Brain - pathology | Adult | Female | Cognition Disorders - psychology | Nervous system diseases | Neurosciences | Gene mutations | Analysis | Genetic research | Alzheimer's disease | Medical imaging equipment | Studies | Volumetric analysis | Memory | Biomarkers | Mutation | Family medical history | Alzheimers disease | Age | Dementia
Neurology | PROGRANULIN MUTATION CARRIERS | REPEAT EXPANSION | LOBAR DEGENERATION | NETWORK CONNECTIVITY | ATROPHY | ALZHEIMERS-DISEASE | TAU | BEHAVIORAL VARIANT | C9ORF72 | PROGRESSION | CLINICAL NEUROLOGY | Frontotemporal Dementia - genetics | Cross-Sectional Studies | Humans | Middle Aged | Male | Cognition Disorders - genetics | Frontotemporal Dementia - psychology | Asymptomatic Diseases | Frontotemporal Dementia - diagnosis | Mutation - genetics | Neuropsychological Tests | Cognition Disorders - diagnosis | Brain - pathology | Adult | Female | Cognition Disorders - psychology | Nervous system diseases | Neurosciences | Gene mutations | Analysis | Genetic research | Alzheimer's disease | Medical imaging equipment | Studies | Volumetric analysis | Memory | Biomarkers | Mutation | Family medical history | Alzheimers disease | Age | Dementia
Journal Article
Methods of Information in Medicine, ISSN 0026-1270, 2017, Volume 56, pp. e39 - e48
Background: Health information systems (HIS) are one of the most important areas for biomedical and health informatics. In order to professionally deal with...
Health information systems | Strategic information management | Education | Biomedical informatics | Health informatics | Medical informatics | COMPUTER SCIENCE, INFORMATION SYSTEMS | STUDENTS | biomedical informatics | EXPERIENCES | strategic information management | health information systems | medical informatics | EHEALTH | COLLABORATION | PERSPECTIVES | HEALTH CARE SCIENCES & SERVICES | health informatics | UNIVERSITIES | PARTNERSHIP | JOB PROFILES
Health information systems | Strategic information management | Education | Biomedical informatics | Health informatics | Medical informatics | COMPUTER SCIENCE, INFORMATION SYSTEMS | STUDENTS | biomedical informatics | EXPERIENCES | strategic information management | health information systems | medical informatics | EHEALTH | COLLABORATION | PERSPECTIVES | HEALTH CARE SCIENCES & SERVICES | health informatics | UNIVERSITIES | PARTNERSHIP | JOB PROFILES
Journal Article
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GWAS for executive function and processing speed suggests involvement of the CADM2 gene
Molecular Psychiatry, ISSN 1359-4184, 02/2016, Volume 21, Issue 2, pp. 189 - 197
textabstractTo identify common variants contributing to normal variation in two specific domains of cognitive functioning, we conducted a genome-wide...
COMMON VARIANTS | METAANALYSIS | PSYCHIATRY | PERFORMANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCE | SCHIZOPHRENIA | LOCI | NEUROSCIENCES | COGNITIVE FUNCTION | LINKAGE ANALYSIS | EXPRESSION | GENOME-WIDE ASSOCIATION | gamma-Aminobutyric Acid | Cell Adhesion Molecules - genetics | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Cell Adhesion Molecules - physiology | Genetic Association Studies | Introns | Genomics | Humans | Middle Aged | Male | Executive Function - physiology | Neuropsychological Tests | Aged, 80 and over | Cognition - physiology | Female | Aged | Genetic Variation - genetics | Polymorphism, Single Nucleotide | Cohort Studies | GABA | Physiological aspects | Genetic aspects | Single nucleotide polymorphisms | Research | Diagnosis | Dementia
COMMON VARIANTS | METAANALYSIS | PSYCHIATRY | PERFORMANCE | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROSCIENCE | SCHIZOPHRENIA | LOCI | NEUROSCIENCES | COGNITIVE FUNCTION | LINKAGE ANALYSIS | EXPRESSION | GENOME-WIDE ASSOCIATION | gamma-Aminobutyric Acid | Cell Adhesion Molecules - genetics | European Continental Ancestry Group - genetics | Genome-Wide Association Study | Cell Adhesion Molecules - physiology | Genetic Association Studies | Introns | Genomics | Humans | Middle Aged | Male | Executive Function - physiology | Neuropsychological Tests | Aged, 80 and over | Cognition - physiology | Female | Aged | Genetic Variation - genetics | Polymorphism, Single Nucleotide | Cohort Studies | GABA | Physiological aspects | Genetic aspects | Single nucleotide polymorphisms | Research | Diagnosis | Dementia
Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 03/2019, Volume 7, Issue 1, pp. 39 - 13
Human homologue of yeast UV excision repair protein Rad23b (HR23B) inclusions are found in a number of neurodegenerative diseases, including frontotemporal...
ERAD | Clinical Neurology | NGly1 | FTD | Pathology and Forensic Medicine | ALS | HR23B | C9ORF72 | DPRs | Poly-GA | Cellular and Molecular Neuroscience | NEURODEGENERATION | CANCER | NEUROSCIENCES | NUCLEOTIDE EXCISION-REPAIR | RAD23 | DIPEPTIDE-REPEAT PROTEINS | EXPANSION | DNA-REPAIR | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | RNA FOCI | Amyotrophic lateral sclerosis | Genetic aspects | Research | Frontotemporal dementia | Gene expression | Spinal cord | Disease | DNA damage | DNA repair | Autophagy | Proteins | Pathology | Neurodegeneration | Fibroblasts | Ataxia | Localization | Deoxyribonucleic acid--DNA | Dementia
ERAD | Clinical Neurology | NGly1 | FTD | Pathology and Forensic Medicine | ALS | HR23B | C9ORF72 | DPRs | Poly-GA | Cellular and Molecular Neuroscience | NEURODEGENERATION | CANCER | NEUROSCIENCES | NUCLEOTIDE EXCISION-REPAIR | RAD23 | DIPEPTIDE-REPEAT PROTEINS | EXPANSION | DNA-REPAIR | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | RNA FOCI | Amyotrophic lateral sclerosis | Genetic aspects | Research | Frontotemporal dementia | Gene expression | Spinal cord | Disease | DNA damage | DNA repair | Autophagy | Proteins | Pathology | Neurodegeneration | Fibroblasts | Ataxia | Localization | Deoxyribonucleic acid--DNA | Dementia
Journal Article
Dementia and Geriatric Cognitive Disorders, ISSN 1420-8008, 06/2006, Volume 22, Issue 1, pp. 35 - 41
Background: Behavioural changes are a key factor in distinguishing frontotemporal dementia (FTD) from Alzheimer's disease ( AD), however, little is known about...
Caregivers | Distress | Frontotemporal dementia | Alzheimer's disease | Behavioural problems | distress | behavioural problems | PSYCHIATRY | frontotemporal dementia | SYMPTOMS | CLINICAL NEUROLOGY | NEUROPSYCHIATRIC INVENTORY | GERIATRICS & GERONTOLOGY | caregivers | PATIENT | CARERS | STRESS | BURDEN | Psychiatric Status Rating Scales | Behavioral Symptoms | Dementia - psychology | Caregivers - psychology | Humans | Middle Aged | Female | Male | Surveys and Questionnaires | Aged | Stress, Psychological - psychology | Alzheimer Disease - psychology | Dementia
Caregivers | Distress | Frontotemporal dementia | Alzheimer's disease | Behavioural problems | distress | behavioural problems | PSYCHIATRY | frontotemporal dementia | SYMPTOMS | CLINICAL NEUROLOGY | NEUROPSYCHIATRIC INVENTORY | GERIATRICS & GERONTOLOGY | caregivers | PATIENT | CARERS | STRESS | BURDEN | Psychiatric Status Rating Scales | Behavioral Symptoms | Dementia - psychology | Caregivers - psychology | Humans | Middle Aged | Female | Male | Surveys and Questionnaires | Aged | Stress, Psychological - psychology | Alzheimer Disease - psychology | Dementia
Journal Article
Neurobiology of Aging, ISSN 0197-4580, 2016, Volume 38, pp. 21 - 31
Abstract We examined patterns of cortical thickness loss and cognitive decline over time in 19 patients with Alzheimer's disease (AD), 10 with behavioral...
Neurology | Internal Medicine | Behavioral variant frontotemporal dementia | Cognition | Longitudinal | Gray matter thickness | Alzheimer's disease | SURFACE-BASED ANALYSIS | BRAIN ATROPHY | MRI | VOLUME | CEREBRAL ATROPHY | CINGULATE GYRUS | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | RATES | MORPHOMETRY | PROGRESSION | Humans | Middle Aged | Male | Frontotemporal Dementia - psychology | Alzheimer Disease - pathology | Magnetic Resonance Imaging | Time Factors | Gray Matter - pathology | Female | Aged | Behavior | Temporal Lobe - pathology | Alzheimer Disease - psychology | Frontal Lobe - pathology | Frontotemporal Dementia - pathology | Brain | Neurosciences | Analysis | Medical genetics
Neurology | Internal Medicine | Behavioral variant frontotemporal dementia | Cognition | Longitudinal | Gray matter thickness | Alzheimer's disease | SURFACE-BASED ANALYSIS | BRAIN ATROPHY | MRI | VOLUME | CEREBRAL ATROPHY | CINGULATE GYRUS | NEUROSCIENCES | GERIATRICS & GERONTOLOGY | RATES | MORPHOMETRY | PROGRESSION | Humans | Middle Aged | Male | Frontotemporal Dementia - psychology | Alzheimer Disease - pathology | Magnetic Resonance Imaging | Time Factors | Gray Matter - pathology | Female | Aged | Behavior | Temporal Lobe - pathology | Alzheimer Disease - psychology | Frontal Lobe - pathology | Frontotemporal Dementia - pathology | Brain | Neurosciences | Analysis | Medical genetics
Journal Article