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1دورية أكاديمية
المؤلفون: Alain D. Dekker, Yannick Vermeiren, Gonny Beugelsdijk, Mieke Schippers, Lyanne Hassefras, José Eleveld, Sharina Grefelman, Roelie Fopma, Monique Bomer-Veenboer, G. Danielle E. Oosterling, Esther Scholten, Marleen Tollenaere, Gert Van Goethem, Christine zu Eulenburg, Antonia M. W. Coppus, Peter P. De Deyn
المصدر: Tijdschrift voor Gerontologie en Geriatrie, Iss 5 (2018)
مصطلحات موضوعية: dementie, downsyndroom, gedrag, trisomie 21, ziekte van Alzheimer, Medicine
وصف الملف: electronic resource
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المؤلفون: Martin Lammens, Gert Van Goethem, Michèl A.A.P. Willemsen, Bram Heijs, Marjolein Breur, Martin Giera, Mia L. Pras-Raves, Pippa Staps, Marianna Bugiani, Ron A. Wevers, Marinette van der Graaf, Annemieke Groen, William B. Rizzo, Frédéric M. Vaz, Antoine H. C. van Kampen, Sacha Ferdinandusse
المساهمون: Pathology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Epidemiology and Data Science, APH - Methodology, APH - Personalized Medicine
المصدر: Journal of Inherited Metabolic Disease
Staps, P, Rizzo, W B, Vaz, F M, Bugiani, M, Giera, M, Heijs, B, van Kampen, A H C, Pras-Raves, M L, Breur, M, Groen, A, Ferdinandusse, S, van der Graaf, M, Van Goethem, G, Lammens, M, Wevers, R A & Willemsen, M A A P 2020, ' Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome ', Journal of Inherited Metabolic Disease, vol. 43, no. 6, pp. 1265-1278 . https://doi.org/10.1002/jimd.12275
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. Springer Netherlands
Journal of Inherited Metabolic Disease, 43(6), 1265-1278. WILEY
Journal of Inherited Metabolic Disease, 43, 6, pp. 1265-1278
Journal of Inherited Metabolic Disease, 43, 1265-1278
Journal of inherited metabolic disease, 43(6), 1265-1278. Springer Netherlandsمصطلحات موضوعية: Sjögren-Larsson syndrome, medicine.medical_specialty, brain, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], mass spectrometry imaging, White matter, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, Lipid droplet, Lipidomics, Genetics, medicine, Humans, ether lipids, Genetics (clinical), phospholipids, 030304 developmental biology, Aged, Sjögren‐Larsson syndrome, 0303 health sciences, Sjögren–Larsson syndrome, 030305 genetics & heredity, Lipid metabolism, odd-chain fatty alcohols, Original Articles, Lipidome, fatty aldehyde dehydrogenase, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Lipid Metabolism, Magnetic Resonance Imaging, odd‐chain fatty alcohols, Sjogren-Larsson Syndrome, Ether lipid, Endocrinology, medicine.anatomical_structure, chemistry, Myelin maintenance, lipidomics, Female, Original Article, pathology, Human medicine, Fatty Alcohols, Ethers
وصف الملف: application/pdf
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المؤلفون: Lyanne Hassefras, Esther Scholten, Christine Eulenburg, Peter Paul De Deyn, José Eleveld, Alain D. Dekker, Antonia M. W. Coppus, Sharina Grefelman, Roelie Fopma, Gonny Beugelsdijk, G. Danielle E. Oosterling, Marleen Tollenaere, Monique Bomer-Veenboer, Yannick Vermeiren, Gert Van Goethem, Mieke Schippers
المساهمون: Life Course Epidemiology, Molecular Neuroscience and Ageing Research
المصدر: Tijdschrift voor Gerontologie en Geriatrie, 49(5), 187-205
Tijdschrift voor gerontologie en geriatrie
Tijdschrift voor Gerontologie en Geriatrie 49 (2018) 5مصطلحات موضوعية: 030214 geriatrics, Geriatrics gerontology, Down syndrome, media_common.quotation_subject, Art, behaviour, trisomy 21, 03 medical and health sciences, 0302 clinical medicine, Life Science, Human medicine, Geriatrics and Gerontology, Theology, Biology, Alzheimer’s disease, Gerontology, 030217 neurology & neurosurgery, dementia, media_common
وصف الملف: application/octet-stream; pdf; text/html; application/pdf
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المؤلفون: Bettina Blaumeiser, David Crosiers, Gert Van Goethem
المصدر: Mov Disord Clin Pract
Movement Disorders Clinical Practiceمصطلحات موضوعية: Dystonia, Movement disorders, Deep brain stimulation, business.industry, medicine.medical_treatment, Letters: Published Article, medicine.disease, Neurology, Medicine, Deletion syndrome, Human medicine, Neurology (clinical), medicine.symptom, business, Neuroscience
وصف الملف: pdf
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المؤلفون: Marek Wojciechowski, Peter Dieleman, Gert Van Goethem
المصدر: Bijblijven. 32:40-51
مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, media_common.quotation_subject, 030212 general & internal medicine, General Medicine, Art, Humanities, 030217 neurology & neurosurgery, media_common
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المؤلفون: Alain D, Dekker, Yannick, Vermeiren, Gonny, Beugelsdijk, Mieke, Schippers, Lyanne, Hassefras, José, Eleveld, Sharina, Grefelman, Roelie, Fopma, Monique, Bomer-Veenboer, G Danielle E, Oosterling, Esther, Scholten, Marleen, Tollenaere, Gert, Van Goethem, Christine, Zu Eulenburg, Antonia M W, Coppus, Peter P, De Deyn
المصدر: Tijdschrift voor gerontologie en geriatrie. 49(5)
مصطلحات موضوعية: Diagnosis, Differential, Male, Problem Behavior, Psychopathology, Depression, Case-Control Studies, Apathy, Humans, Dementia, Female, Anxiety, Down Syndrome, Aged
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المؤلفون: Maaike de Vries, David C. Samuels, Bianca J.C. van den Bosch, Douglass M. Turnbull, Angela Abicht, Elke Holinski-Feder, Ireneus F. M. de Coo, Gavin Hudson, Rita Horvath, Hanns Lochmüller, Bart W. Smits, Anne Lombès, Laurence A. Bindoff, Robert W. Taylor, Michio Hirano, Vivienne C.M. Neeve, Bianca-Cortina Keiling, S. DiMauro, Jan A.M. Smeitink, Hubert J.M. Smeets, Carsten Saft, Thomas Klopstock, G. Gorman, Gert Van Goethem, Birgit Czermin, Claude Jardel, Patrick F. Chinnery
المساهمون: Chinnery, Patrick [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Erasmus MC other, Neurology, MUMC+: DA KG Lab Centraal Lab (9), Psychiatrie & Neuropsychologie, Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction
المصدر: Brain, 135, 3614-26
Brain, 135, Pt 12, pp. 3614-26
Brain, 135, 3614-3626. Oxford University Press
Brain
Brain, 135(12), 3614-3626. Oxford University Pressمصطلحات موضوعية: Male, Threonine, Ophthalmoplegia, Chronic Progressive External, DNA Mutational Analysis, Statistics as Topic, DNA-Directed DNA Polymerase, neuromuscular disorders, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Missense mutation, molecular biology, genetics, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, mitochondrial diseases, Alanine, Homozygote, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Middle Aged, Phenotype, 3. Good health, DNA Polymerase gamma, Europe, Female, Adult, Mitochondrial DNA, Adolescent, phenotype, Biology, Statistics, Nonparametric, 03 medical and health sciences, Young Adult, SDG 3 - Good Health and Well-being, medicine, Humans, Genetic Predisposition to Disease, Epigenetics, Allele, Muscle, Skeletal, Gene, DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Family Health, Haplotype, Diffuse Cerebral Sclerosis of Schilder, Original Articles, Human Reproduction [NCEBP 12], Neurology (clinical), Human medicine, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e86a14fb203538bd4f9cdcdfbb7632e
https://doi.org/10.1093/brain/aws298 -
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المؤلفون: Gert Van Goethem, Rik Vandenberghe, Löfgren Ann, Annelies Quaegebeur, Katrien Smets, Wim Van Paesschen, Wouter Janssen
المصدر: Acta neurologica Belgica
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Neurology, Adolescent, DNA Mutational Analysis, DNA-Directed DNA Polymerase, Status epilepticus, Young Adult, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Fluorodeoxyglucose F18, Humans, Medicine, Child, business.industry, Electroencephalography, General Medicine, medicine.disease, Magnetic Resonance Imaging, DNA Polymerase gamma, 030104 developmental biology, Migraine, Positron-Emission Tomography, Anesthesia, Mutation, Epilepsy syndromes, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Occipital lobe, Polyneuropathy, 030217 neurology & neurosurgery
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المؤلفون: Nathalie, Fieremans, Hilde, Van Esch, Maureen, Holvoet, Gert, Van Goethem, Koenraad, Devriendt, Monica, Rosello, Sonia, Mayo, Francisco, Martinez, Shalini, Jhangiani, Donna M, Muzny, Richard A, Gibbs, James R, Lupski, Joris R, Vermeesch, Peter, Marynen, Guy, Froyen
المصدر: Human mutation. 37(8)
مصطلحات موضوعية: Chromosomal Proteins, Non-Histone, Methyl-CpG-Binding Protein 2, Genetic Variation, Membrane Proteins, Nuclear Proteins, Cell Cycle Proteins, Sequence Analysis, DNA, DEAD-box RNA Helicases, X Chromosome Inactivation, Intellectual Disability, Humans, Exome, Female, Carrier Proteins
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المؤلفون: Peter Hackman, Helena Kääriäinen, Teppo Varilo, Laurence A. Bindoff, Ann Löfgren, Petri Luoma, Anu Suomalainen, Seppo Kaakkola, Gert Van Goethem, Kari Majamaa, Silja Heiskanen, Bjarne Udd, Anders Paetau, Ilse Lappalainen, Maria Rantamäki, Vesa Juvonen, Anna H. Hakonen
المصدر: The American journal of human genetics
مصطلحات موضوعية: Adult, Gait Ataxia, Male, Mitochondrial DNA, Ataxia, Molecular Sequence Data, Population, Mutation, Missense, Genes, Recessive, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, Evolution, Molecular, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Genetics, medicine, Humans, Genetics(clinical), Genetic Testing, Cloning, Molecular, Allele, education, Allele frequency, Finland, Genetics (clinical), DNA Primers, 030304 developmental biology, Genetic testing, 0303 health sciences, education.field_of_study, Mutation, Base Sequence, medicine.diagnostic_test, Haplotype, Sequence Analysis, DNA, Articles, Middle Aged, DNA Polymerase gamma, 3. Good health, Haplotypes, Female, Human medicine, medicine.symptom, 030217 neurology & neurosurgery
وصف الملف: pdf