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Neurosurgery, ISSN 0148-396X, 04/2019, Volume 84, Issue 4, pp. 883 - 889
Abstract BACKGROUND Idiopathic normal pressure hydrocephalus (iNPH) is a progressive and potentially treatable neurodegenerative disease affecting elderly... 
Schizophrenia | Normal pressure hydrocephalus | Prevalence | Comorbidity | Cohort study | Outcome | SURGERY | RISK | DISORDERS | SHUNT SURGERY | SYMPTOMS | CLINICAL NEUROLOGY | CSF CIRCULATION | INPH | Research—Human—Clinical Studies
Journal Article
Dementia and Geriatric Cognitive Disorders, ISSN 1420-8008, 05/2019, Volume 47, Issue 1-2, pp. 91 - 103
Background/Aims: The C9ORF72 expansion is known to cause frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). We aim to identify... 
Original Research Article | Frontotemporal lobar degeneration | C9ORF72 | Behavioural variant frontotemporal dementia | Dementia | Idiopathic normal pressure hydrocephalus | CRITERIA | PSYCHIATRY | SENSITIVITY | CLINICAL NEUROLOGY | GERIATRICS & GERONTOLOGY | PROFILE | DISEASE | BEHAVIORAL VARIANT | HEXANUCLEOTIDE REPEAT
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 02/2007, Volume 282, Issue 7, pp. 4524 - 4532
The stability and transcriptional activity of the hypoxia-inducible factors (HIFs) are regulated by two oxygen-dependent events that are catalyzed by three HIF... 
Gene Expression Regulation, Enzymologic - drug effects | Transcription, Genetic - drug effects | Vascular Endothelial Growth Factor A - biosynthesis | Fibroblasts - enzymology | Fumarate Hydratase - chemistry | Mixed Function Oxygenases - metabolism | Fumarate Hydratase - deficiency | Mixed Function Oxygenases - chemistry | Succinate Dehydrogenase - chemistry | Procollagen-Proline Dioxygenase - metabolism | Dose-Response Relationship, Drug | Fumarate Hydratase - metabolism | Neoplasms - chemistry | Neoplasms - genetics | Hypoxia-Inducible Factor 1, alpha Subunit - metabolism | Procollagen-Proline Dioxygenase - antagonists & inhibitors | Hypoxia-Inducible Factor 1, alpha Subunit - chemistry | Erythropoietin - biosynthesis | Fibroblasts - chemistry | Cell Line | Enzyme Inhibitors - metabolism | Hypoxia-Inducible Factor 1, alpha Subunit - genetics | Citric Acid Cycle - drug effects | Neoplasms - enzymology | Mixed Function Oxygenases - antagonists & inhibitors | Fibroblasts - pathology | Succinate Dehydrogenase - deficiency | p300-CBP Transcription Factors - metabolism | Citric Acid Cycle - genetics | Procollagen-Proline Dioxygenase - genetics | Gene Expression Regulation, Enzymologic - genetics | Succinate Dehydrogenase - metabolism | Mixed Function Oxygenases - genetics | Neoplasms - pathology | Procollagen-Proline Dioxygenase - chemistry | Index Medicus
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 2018, Volume 66, Issue 2, pp. 743 - 750
Recent studies have shown an epidemiological and immunological association between bullous pemphigoid (BP) and several neurological or psychiatric diseases.... 
bullous pemphigoid | comorbidity | Autoantibody | dementia | frontotemporal dementia | immunology | C9orf72 | AUTOANTIBODIES | NEUROSCIENCES | DISEASE | EXPANSION | LOW-PREVALENCE | MUTATIONS | PROTEINS | HEXANUCLEOTIDE REPEAT | ELISA | Pemphigoid | Immunology | Autoantibodies | Mental disorders | Comorbidity | Bullous pemphigoid | Degeneration | Frontotemporal dementia | Expansion | Epidemiology | Patients | Enzyme-linked immunosorbent assay
Journal Article
Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 2019, p. jnnp-2019-320826
To examine the differential diagnostic significance of cerebrospinal fluid (CSF) biomarkers reflecting Alzheimer's disease-related amyloid β (Aβ) production... 
Parkinson's disease | corticobasal degeneration | Multiple systems atrophy | Progressive supranuclear palsy | biomarkers | vascular dementia | CSF | frontotemporal dementia | Alzheimer's disease | idiopathic normal pressure hydrocephalus
Journal Article
Journal of Alzheimer's Disease, ISSN 1387-2877, 06/2019, Volume 69, Issue 3, pp. 775 - 782
A lot of effort has been done to unravel the genetics underlying early-onset Alzheimer’s disease (AD) and frontotemporal lobar degeneration (FTLD). However,... 
Phenotypes | Genes | Superoxide dismutase | Family medical history | FUS protein | Next-generation sequencing | Dementia disorders | Genetics | Degeneration | Mutation | Frontotemporal dementia | Alzheimer's disease | Age | Dementia
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 02/2019, Volume 139, Issue 2, pp. 293 - 299
Neurologic patients have an increased risk for bullous pemphigoid (BP), in which autoantibodies target BP180, a cutaneous basement membrane protein also... 
ANTIBODIES | CELLS | COLLAGEN XVII | PROTEINS | DERMATOLOGY
Journal Article
Journal Article
JOURNAL OF ALZHEIMERS DISEASE, ISSN 1387-2877, 2019, Volume 69, Issue 3, pp. 775 - 782
A lot of effort has been done to unravel the genetics underlying early-onset Alzheimer's disease (AD) and frontotemporal lobar degeneration (FTLD). However,... 
HEXANUCLEOTIDE REPEAT EXPANSION | CRITERIA | DIAGNOSIS | DEMENTIA | VARIANTS | early onset | frontotemporal dementia | C9ORF72 | NEUROSCIENCES | mutation | genetics | microtubule-associated protein tau | FINNISH PATIENTS | missense | TMEM106B | Alzheimer's disease | human | ASSOCIATION | frontotemporal lobar degeneration | presenilin-1
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 02/2019, Volume 139, Issue 2, pp. 293 - 299
Neurologic patients have an increased risk for bullous pemphigoid (BP), in which autoantibodies target BP180, a cutaneous basement membrane protein also... 
Journal Article
by Majounie, Elisa, PhD and Renton, Alan E, PhD and Mok, Kin, MSc and Dopper, Elise GP and Waite, Adrian, PhD and Rollinson, Sara, PhD and Chiò, Adriano, MD and Restagno, Gabriella, MD and Nicolaou, Nayia, MSc and Simon-Sanchez, Javier, PhD and van Swieten, John C, Prof and Abramzon, Yevgeniya and Johnson, Janel O, PhD and Sendtner, Michael, Prof and Pamphlett, Roger, MD and Orrell, Richard W, MD and Mead, Simon, MD and Sidle, Katie C, MD and Houlden, Henry, Prof and Rohrer, Jonathan D, MD and Morrison, Karen E, Prof and Pall, Hardev, MD and Talbot, Kevin, Prof and Ansorge, Olaf, MD and Hernandez, Dena G, MSc and Arepalli, Sampath, MS and Sabatelli, Mario, MD and Mora, Gabriele, MD and Corbo, Massimo, MD and Giannini, Fabio, MD and Calvo, Andrea, MD and Englund, Elisabet, MD and Borghero, Giuseppe, MD and Floris, Gian Luca, MD and Remes, Anne M, Prof and Laaksovirta, Hannu, MD and McCluskey, Leo, MD and Trojanowski, John Q, Prof and Van Deerlin, Vivianna M, MD and Schellenberg, Gerard D, Prof and Nalls, Michael A, PhD and Drory, Vivian E, MD and Lu, Chin-Song, Prof and Yeh, Tu-Hsueh, MD and Ishiura, Hiroyuki, MD and Takahashi, Yuji, MD and Tsuji, Shoji, Prof and Le Ber, Isabelle, MD and Brice, Alexis, Prof and Drepper, Carsten, PhD and Williams, Nigel, PhD and Kirby, Janine, PhD and Shaw, Pamela, Prof and Hardy, John, Prof and Tienari, Pentti J, MD and Heutink, Peter, Prof and Morris, Huw R, MD and Pickering-Brown, Stuart, Prof and Traynor, Bryan J, Dr and Chromosome 9-ALS FTD Consortium and French Res Network FTLD FTLD ALS and ITALSGEN Consortium and French research network on FTLD/FTLD/ALS and Chromosome 9-ALS/FTD Consortium and Oncology and Pathology, Kamprad Lab and Lund University and Lunds universitet and Onkologi och Patologi, Kampradlab
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 | Index Medicus | 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
Journal of Alzheimer's Disease, ISSN 1387-2877, 02/2017, Volume 56, Issue 4, pp. 1241 - 1251
While behavioral symptoms are both early and prevalent features of behavioral variant frontotemporal dementia (bvFTD), they can be present in other types of... 
Medical research | Neurodegenerative diseases | Cognitive ability | Impairment | Clinical trials | Mental depression | Patients | Correlation analysis | Dementia disorders | Aphasia | Differential diagnosis | Degeneration | Frontotemporal dementia | Alzheimer's disease | Dementia
Journal Article
NeuroImage: Clinical, ISSN 2213-1582, 2019, Volume 22, pp. 101711 - 101711
Diagnosing frontotemporal dementia may be challenging. New methods for analysis of regional brain atrophy patterns on magnetic resonance imaging (MRI) could... 
Frontotemporal lobar degeneration | Differential diagnosis | Behavioral variant frontotemporal dementia | Primary progressive aphasia | MRI | Dementia
Journal Article
Dementia and Geriatric Cognitive Disorders Extra, ISSN 1664-5464, 02/2018, Volume 8, Issue 1, pp. 51 - 59
Aims: We assessed the value of automated MRI quantification methods in the differential diagnosis of behavioral-variant frontotemporal dementia (bvFTD) from... 
Original Research Article | Neuroimaging | Frontotemporal lobar degeneration | Frontotemporal dementia | MRI | Machine learning | Dementia
Journal Article