المؤلفون: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee

المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Progressive Supranuclear Palsy (PSP), Whole-Genome Sequencing (WGS), Genome-Wide Association Study (GWAS), Structural Variants (SVs), Apolipoprotein E (APOE), Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/855cdef1a9b046af9ac1a7a118950c99

المؤلفون: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee

المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-2 (2024)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/9f2d97a4d99c4fcda05bd7c06ecc3351

المؤلفون: Merel O. Mol, Sven J. van der Lee, Marc Hulsman, Yolande A. L. Pijnenburg, Phillip Scheltens, Netherlands Brain Bank, Harro Seelaar, John C. van Swieten, Laura Donker Kaat, Henne Holstege, Jeroen G. J. van Rooij

المصدر: Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Alzheimer’s disease, Early-onset Alzheimer disease, Familial Alzheimer disease, Whole exome sequencing, Genetic testing, Genetic counseling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1758-9193

URL الوصول: https://doaj.org/article/c8e6a06105dd443495870162989bb619

المؤلفون: Jackie M. Poos, Esther van den Berg, Janne M. Papma, Fleur C. van der Tholen, Harro Seelaar, Laura Donker Kaat, J Anneke Kievit, Aad Tibben, John C. van Swieten, Lize C. Jiskoot

المصدر: Frontiers in Psychiatry, Vol 13 (2022)

مصطلحات موضوعية: frontotemporal dementia (FTD), presymptomatic, mindfulness, depression, anxiety, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.864391/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/6099ea3d1ced434b81eb6c9767c92c2f

المؤلفون: Lize C. Jiskoot, Martina Bocchetta, Jennifer M. Nicholas, David M. Cash, David Thomas, Marc Modat, Sebastien Ourselin, Serge A.R.B. Rombouts, Elise G.P. Dopper, Lieke H. Meeter, Jessica L. Panman, Rick vanMinkelen, Emma L. van derEnde, Laura Donker Kaat, Yolande A.L. Pijnenburg, Barbara Borroni, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, James Rowe, Caroline Graff, Fabrizio Tagliavini, Giovanni B. Frisoni, Robert Laforce Jr, Elizabeth Finger, Alexandre deMendonça, Sandro Sorbi, on behalf of the Genetic Frontotemporal dementia Initiative (GENFI), Janne M. Papma, John C. vanSwieten, Jonathan D. Rohrer

المصدر: Annals of Clinical and Translational Neurology, Vol 5, Iss 9, Pp 1025-1036 (2018)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/5ea32abf654c46c99d65c871dd01a86f

المؤلفون: Wang Zheng Chiu, Laura Donker Kaat, Agnita J. W. Boon, Wouter Kamphorst, Axel Schleicher, Karl Zilles, John C. van Swieten, Nicola Palomero-Gallagher

المصدر: Alzheimer’s Research & Therapy, Vol 9, Iss 1, Pp 1-13 (2017)

مصطلحات موضوعية: Progressive supranuclear palsy, Frontal presentation, Neurotransmitter receptors, Midcingulate cortex, Caudate nucleus, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13195-017-0259-5; https://doaj.org/toc/1758-9193

URL الوصول: https://doaj.org/article/4765c2dea55f4f1a9767b0cb7289991e

المؤلفون: Lize C. Jiskoot, Lucy L. Russell, Caroline V. Greaves, Esther van Schaik, Esther van den Berg, Jackie M. Poos, Liset de Boer, Laura Donker Kaat, Harro Seelaar, Yolande A. L. Pijnenburg, John C. van Swieten, Jonathan D. Rohrer

المساهمون: Neurology, Clinical Genetics, Amsterdam Neuroscience - Neurodegeneration

المصدر: Journal of Neurology, 270(5), 2674-2687. D. Steinkopff-Verlag
Jiskoot, L C, Russell, L L, Greaves, C V, van Schaik, E, van den Berg, E, Poos, J M, de Boer, L, Donker Kaat, L, Seelaar, H, Pijnenburg, Y A L, van Swieten, J C & Rohrer, J D 2023, ' Addition of the FTD Module to the Neuropsychiatric Inventory improves classification of frontotemporal dementia spectrum disorders ', Journal of Neurology, vol. 270, no. 5, pp. 2674-2687 . https://doi.org/10.1007/s00415-023-11596-3

مصطلحات موضوعية: Neurology, Neurology (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af6fb942a5ec2a653c682669b98a7d4d
https://pure.eur.nl/en/publications/880b6d7e-28ca-46de-a50b-cebba25c98e3

المؤلفون: Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Matthew L. Tedder, Raymond J. Louie, Robin S. Fletcher, Hannah W. Moore, Anna Childers, Ellyn R. Farrelly, Neena L. Champaigne, Michael J. Lyons, David B. Everman, R. Curtis Rogers, Steven A. Skinner, Alicia Renck, Dena R. Matalon, Shelley K. Dills, Berrin Monteleone, Serwet Demirdas, Alexander J.M. Dingemans, Laura Donker Kaat, Sharon M. Kolk, Rolph Pfundt, Patrick Rump, Bekim Sadikovic, Tjitske Kleefstra, Kameryn M. Butler

المساهمون: Clinical Genetics

المصدر: Genetics in Medicine, 25, 1, pp. 63-75
Genetics in Medicine, 25(1), 63-75. Lippincott Williams & Wilkins
Genetics in Medicine, 25, 63-75
Genetics in Medicine, 25(1), 63-75. Nature Publishing Group

مصطلحات موضوعية: DNA methylation, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Witteveen-Kolk syndrome, Epigenetics, WITKOS, Genetics (clinical), SIN3A, Molecular Neurobiology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81eebd5981e9df333897e90646b216f2
https://repository.ubn.ru.nl/handle/2066/290129

المؤلفون: Annemieke J.M.H. Verkerk, Rick van Minkelen, Merel O. Mol, Laura Donker Kaat, Anneke J.A. Kievit, Shamiram Melhem, Jeroen van Rooij, Rosa Rademakers, Harro Seelaar, John C. van Swieten, Elise G.P. Dopper, Cyril Pottier, Tsz H. Wong

المساهمون: Neurology, Internal Medicine, Clinical Genetics

المصدر: Neurobiology of aging
Neurobiology of Aging, 97, 148.e9-148.e16. Elsevier Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Cell Cycle Proteins, tau Proteins, Biology, Protein Serine-Threonine Kinases, TARDBP, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, C9orf72, Valosin Containing Protein, Genetic variation, Exome Sequencing, medicine, Presenilin-1, Humans, Genetic Predisposition to Disease, Exome sequencing, Genetic Association Studies, Genetics, General Neuroscience, Genetic Variation, Membrane Transport Proteins, medicine.disease, DNA-Binding Proteins, Cytoskeletal Proteins, 030104 developmental biology, Frontotemporal Dementia, Female, Neurology (clinical), Human medicine, Geriatrics and Gerontology, Trinucleotide repeat expansion, 030217 neurology & neurosurgery, Developmental Biology, Frontotemporal dementia, Genetic screen

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f03d6e98342715d34a7661e046faf28
https://doi.org/10.1016/j.neurobiolaging.2020.07.014

المؤلفون: Joyce B. J. van Meurs, Takuya Oshima, Harro Seelaar, John C. van Swieten, André G. Uitterlinden, Netherlands Brain Bank, August B. Smit, Ronald E. van Kesteren, Bart J. L. Eggen, Laura Donker Kaat, Francesca Paron, Shamiram Melhem, Suzanne S M Miedema, Pascal P. Arp, Jeroen van Rooij, Merel O. Mol, Pelle van der Wal, Emanuele Buratti

المساهمون: Molecular Neuroscience and Ageing Research (MOLAR), Restoring Organ Function by Means of Regenerative Medicine (REGENERATE), Internal Medicine, Neurology, Clinical Genetics, Molecular and Cellular Neurobiology, Amsterdam Neuroscience - Neurodegeneration, Center for Neurogenomics and Cognitive Research

المصدر: Brain, 143, 3827-3841. Oxford University Press
Brain, 143(12), 3827-3841. Oxford University Press
van Rooij, J, Mol, M, Melhem, S, van der Wal, P, Arp, P, Paron, F, Donker Kaat, L, Seelaar, H, Brain Bank, N, Miedema, S S M, Oshima, T, Eggen, B J, Uitterlinden, A G, van Meurs, J B J, van Kesteren, RE, Smit, A B, Buratti, E & van Swieten, J C 2020, ' Somatic TARDBP variants as a cause of semantic dementia ', Brain, vol. 143, no. 12, pp. 3827-3841 . https://doi.org/10.1093/brain/awaa317
Brain

مصطلحات موضوعية: Male, 0301 basic medicine, somatic variants, TDP-43, Somatic cell, Semantic dementia, Disease, Biology, TARDBP, 03 medical and health sciences, Exon, 0302 clinical medicine, Atrophy, SDG 3 - Good Health and Well-being, Exome Sequencing, mental disorders, medicine, Humans, Exome, Germ-Line Mutation, Exome sequencing, Brain Chemistry, Genetics, AcademicSubjects/SCI01870, Dentate gyrus, Genetic Variation, Original Articles, DNA, Exons, Middle Aged, medicine.disease, Semantics, DNA-Binding Proteins, Editor's Choice, Alternative Splicing, 030104 developmental biology, semantic dementia, Frontotemporal Dementia, TDP-43 Proteinopathies, Mutation, AcademicSubjects/MED00310, Female, Neurology (clinical), 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef967f61b2d610ca0810629d5399f19
https://doi.org/10.1093/brain/awaa317

المؤلفون: Marit Schwantje, Merel S. Ebberink, Mirjam Doolaard, Jos P. N. Ruiter, Sabine A. Fuchs, Niklas Darin, Carola Hedberg‐Oldfors, Luc Régal, Laura Donker Kaat, Hidde H. Huidekoper, Simon Olpin, Duncan Cole, Stuart J. Moat, Gepke Visser, Sacha Ferdinandusse

المساهمون: Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics

المصدر: Journal of inherited metabolic disease, 45(4), 819-831. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 819-831. Springer Netherlands

مصطلحات موضوعية: Delayed Diagnosis, mitochondrial trifunctional protein complex, Adolescent, Muscular Diseases/diagnosis, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Muscular Diseases, Genetics, Humans, Coenzyme A, Child, Genetics (clinical), long-chain ketoacyl-CoA thiolase deficiency, Mitochondrial Trifunctional Protein, Fatty Acids, long-chain fatty acid oxidation disorders, thermo-sensitivity, 3-Hydroxyacyl CoA Dehydrogenases, Mitochondrial Myopathies, Mitochondrial Trifunctional Protein/deficiency, mitochondrial trifunctional protein deficiency, Lipid Metabolism, Inborn Errors/diagnosis, Fatty Acids/metabolism, Child, Preschool, Nervous System Diseases, Mitochondrial Myopathies/diagnosis, Cardiomyopathies, myopathy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b7b39d5e59dc3763f84572ce73902c
https://pubmed.ncbi.nlm.nih.gov/35403730

المؤلفون: Jackie M. Poos, Esther van den Berg, Janne M. Papma, Fleur C. van der Tholen, Harro Seelaar, Laura Donker Kaat, J Anneke Kievit, Aad Tibben, John C. van Swieten, Lize C. Jiskoot

مصطلحات موضوعية: Psychiatry (incl. Psychotherapy), frontotemporal dementia (FTD), presymptomatic, mindfulness, depression, anxiety

Relation: https://figshare.com/articles/dataset/Table_1_Mindfulness-Based_Stress_Reduction_in_Pre-symptomatic_Genetic_Frontotemporal_Dementia_A_Pilot_Study_DOCX/19662324

الاتاحة: https://doi.org/10.3389/fpsyt.2022.864391.s001
https://figshare.com/articles/dataset/Table_1_Mindfulness-Based_Stress_Reduction_in_Pre-symptomatic_Genetic_Frontotemporal_Dementia_A_Pilot_Study_DOCX/19662324

المؤلفون: Meike W. Vernooij, Yolande A.L. Pijnenburg, Laura Donker Kaat, Jeroen van Rooij, Elise G.P. Dopper, Resie M. L. van Spaendonk, Michael A. van Es, Petra E. Cohn-Hokke, Sven J. van der Lee, Merel O. Mol, Harro Seelaar, Wouter van Rheenen, Sebastiaan W.R. Nijmeijer, F. A. M. Hennekam, John C. van Swieten, Jan H. Veldink, Annemieke J.M. Rozemuller, Mark R. Janse van Mantgem, Rick van Minkelen

المساهمون: Neurology, Epidemiology, Clinical Genetics, Radiology & Nuclear Medicine, Human Genetics, Amsterdam Neuroscience - Neurodegeneration, Amsterdam Neuroscience - Neuroinfection & -inflammation, VU University medical center, Pathology, Human genetics

المصدر: Journal of Neurology, Neurosurgery and Psychiatry, 92(7), 787-789. BMJ Publishing Group
Journal of Neurology, Neurosurgery, and Psychiatry
Mol, M O, Nijmeijer, S W R, van Rooij, J G J, van Spaendonk, R M L, Pijnenburg, Y A L, van der Lee, S J, van Minkelen, R, Donker Kaat, L, Rozemuller, A J M, Janse van Mantgem, M R, van Rheenen, W, van Es, M A, Veldink, J H, Hennekam, F A M, Vernooij, M, van Swieten, J C, Cohn-Hokke, P E, Seelaar, H & Dopper, E G P 2021, ' Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 92, no. 7, pp. 787-789 . https://doi.org/10.1136/jnnp-2020-325150

مصطلحات موضوعية: Adult, Male, Oncology, medicine.medical_specialty, Neurogenetics, Neuropathology, frontotemporal dementia, TARDBP, Primary progressive aphasia, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Internal medicine, mental disorders, Humans, neuroradiology, Medicine, Dementia, Amyotrophic lateral sclerosis, neurogenetics, Aged, neuropathology, business.industry, PostScript, Middle Aged, medicine.disease, Penetrance, Temporal Lobe, 3. Good health, DNA-Binding Proteins, Psychiatry and Mental health, Female, Surgery, Neurology (clinical), Atrophy, business, 030217 neurology & neurosurgery, Frontotemporal dementia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b9678ff512b2f72850bfd0056f262f0
https://doi.org/10.1136/jnnp-2020-325150

المؤلفون: Regina Bökenkamp-Gramann, Daniela Q.C.M. Barge-Schaapveld, Monique Williams, Julie W. Rutten, Karin van der Tuin, Esther A. R. Nibbeling, Claudia A. L. Ruivenkamp, Sylke J. Steggerda, Laura Donker Kaat, Dietje E. Fransen van de Putte, Remco van Doorn, Marjolein Kriek, Ruben S G M Witlox, Maartje van Rij, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Thomas P. Potjer, Emilia K. Bijlsma, Setareh Moghadasi, Yvette van Ierland, Manon Suerink, Emmelien Aten, Gijs W. E. Santen, Remco Visser, Anne Sophie van der Werf–t Lam, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Ratna N G B Tan, Nicolette S. den Hollander, Arend D. J. ten Harkel, Yvonne Hilhorst-Hofstee

المصدر: Genetics in Medicine. 21:2159-2164

مصطلحات موضوعية: Published Erratum, Perspective (graphical), Psychology, Genome, Genetics (clinical), Genealogy, Human genetics, Spelling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bcea68d20998bde8f8bee4e1a815b939
https://doi.org/10.1038/s41436-018-0363-3

المؤلفون: Daniel L. Polla, Sirous Zeinali, Nina A. Demina, Majid Yavarian, Stylianos E. Antonarakis, Sandra von Hardenberg, Saima Riazuddin, Filomena Pirozzi, Sven Hethey, Zubair M. Ahmed, Leah Fleming, Jacek Pilch, John Condie, Vasilina S. Sergeeva, Mohammad Ali Faghihi, Nael Nadif Kasri, Shima Bahramjahan, Neelam Fatima, Periklis Makrythanasis, Muhammad Ansar, Alena L. Chukhrova, Anke K. Bergmann, Hanka Venselaar, Mohsin Shahzad, Arjan P.M. de Brouwer, Mohammad Ali Farazi Fard, Hans van Bokhoven, Ghayda M. Mirzaa, Mohammad-Sadegh Fallah, Hennie T. Brüggenwirth, Olga Levchenko, Laura Donker Kaat, Afsaneh Taghipour Sheshdeh, Pooneh Nikuei, Amira Masri, Mureed Hussain, Agnieszka Pollak, Federico Santoni, Katrin Linda, Alexander Lavrov, Fareeha Fatima, Ebrahim Eftekhar, Hanan Hamamy, Gaia Ruggeri, Sheikh Riazuddin, Zahra Tabatabaei, Janneke H M Schuurs-Hoeijmakers, Rafał Płoski, Parham Habibzadeh, Mohammad Silawi

المساهمون: Clinical Genetics

المصدر: Genetics in Medicine, 23(7), 1246-1254. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 1246-1254
Genetics in Medicine, 23, 7, pp. 1246-1254
Genet Med

مصطلحات موضوعية: 0301 basic medicine, 030105 genetics & heredity, Biology, Article, 03 medical and health sciences, Neurodevelopmental disorder, Intellectual Disability, Gene expression, Exome Sequencing, medicine, Humans, Induced pluripotent stem cell, Gene, Genetics (clinical), Exome sequencing, Genetics, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Human brain, medicine.disease, Hypotonia, Pedigree, Reverse transcription polymerase chain reaction, 030104 developmental biology, medicine.anatomical_structure, Neurodevelopmental Disorders, medicine.symptom, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3f5a9e869e71a7190c0baaa8bc7696
https://pure.eur.nl/en/publications/01ef9fa8-3fe3-46f4-892f-0fdf1d5a6b76

المؤلفون: Meike W. Vernooij, Jessica L. Panman, Rebecca M. E. Steketee, Esther E. Bron, Laura Donker Kaat, Emma L. van der Ende, Stefan Klein, Anneke J.A. Kievit, Maura Cosseddu, Jackie M. Poos, Enrico Premi, Jonathan D. Rohrer, Lieke H.H. Meeter, Barbara Borroni, Serge A.R.B. Rombouts, Lize C. Jiskoot, John C. van Swieten, Janne M. Papma, Vikram Venkatraghavan, Jaume Olives, Elise G.P. Dopper, Elise Bonomi, Raquel Sánchez-Valle

المصدر: Alzheimer's & Dementia. 16

مصطلحات موضوعية: Epidemiology, business.industry, Health Policy, Disease progression, medicine.disease, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Developmental Neuroscience, Neuroimaging, Biomarker (medicine), Medicine, Neurology (clinical), Geriatrics and Gerontology, business, Neuroscience, Frontotemporal dementia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36b405bf26f90018500f62c7bc60705c
https://doi.org/10.1002/alz.040934

المؤلفون: Merel O, Mol, Tsz H, Wong, Shamiram, Melhem, Sreya, Basu, Riccardo, Viscusi, Niels, Galjart, Annemieke J M, Rozemuller, Claudia, Fallini, John E, Landers, Laura Donker, Kaat, Harro, Seelaar, Jeroen G J, van Rooij, John C, van Swieten

المصدر: Neurology: Genetics
article-version (Version of Record) 3

مصطلحات موضوعية: mental disorders, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9fb453b896181e1f9c4053d3e79a1f76
https://pubmed.ncbi.nlm.nih.gov/34169147

المؤلفون: Jeroen van Rooij, Wilfred F. A. den Dunnen, Patrizia Rizzu, Merel O. Mol, Esther Brusse, Chiara Cupidi, Shamiram Melhem, John C. van Swieten, Laura Donker Kaat, Annemieke J.M.H. Verkerk

المساهمون: Neurology, Internal Medicine, Clinical Genetics

المصدر: Neurology / Genetics 6(3), e417-(2020). doi:10.1212/NXG.0000000000000417
Neurology. Genetics, 6(3):e417. Lippincott Williams & Wilkins
Neurology. Genetics, 6(3):e417. LIPPINCOTT WILLIAMS & WILKINS

مصطلحات موضوعية: Genetics, Mutation, Ataxia, Movement disorders, Cerebellar ataxia, Parkinsonism, Biology, medicine.disease, medicine.disease_cause, Frameshift mutation, Genetic linkage, medicine, Neurology (clinical), ddc:610, medicine.symptom, Cognitive decline, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206279dfc5a237bbc217565ca44d2f49
https://doi.org/10.1212/NXG.0000000000000417

المؤلفون: Setareh Moghadasi, Emilia K. Bijlsma, Remco van Doorn, Monique Williams, Maartje van Rij, Remco Visser, Thomas P. Potjer, Arend D. J. ten Harkel, Yvette van Ierland, Laura Donker Kaat, Emmelien Aten, Daniela Q.C.M. Barge-Schaapveld, Cacha M.P.C.D. Peeters-Scholte, Nicolette S. den Hollander, Ratna N G B Tan, Ruben S G M Witlox, Regina Bökenkamp-Gramann, Julie W. Rutten, Manon Suerink, Marjolein Kriek, Yvonne Hilhorst-Hofstee, Sylke J. Steggerda, Mariëtte J.V. Hoffer, Marije Koopmans, Pleuntje J. van der Sluijs, Anne-Sophie van der Werf –’t Lam, Gijs W. E. Santen, Claudia A. L. Ruivenkamp, Dietje E. Fransen van de Putte, Arie van Haeringen, Karin van der Tuin, Esther A. R. Nibbeling

المساهمون: Neurology, Graduate School

المصدر: Genetics in Medicine, 21(5), 1074-1082. Lippincott Williams & Wilkins
Genetics in Medicine, 21(5), 1074-1082
Genetics in Medicine
Genetics in medicine, 21(5), 1074-1082. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, NICU, Male, Pediatrics, medicine.medical_specialty, Neonatal intensive care unit, health care facilities, manpower, and services, Population, clinical geneticists, 030105 genetics & heredity, Genome, Infant, Newborn, Diseases, Single test, 03 medical and health sciences, Exome Sequencing, Clinical genetic, medicine, Humans, Exome, Genetic Testing, Medical diagnosis, education, Genetics (clinical), Exome sequencing, Retrospective Studies, education.field_of_study, business.industry, Infant, Newborn, Chromosome Mapping, sequencing, rapid, 030104 developmental biology, ES, Intensive Care, Neonatal, Female, business, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1be1375788cf6ae5d4c97f805a4d15f1
https://hdl.handle.net/1765/110952

المؤلفون: Leonie J.M. Vergouw, Li-San Wang, Guido J. Breedveld, Vincenzo Bonifati, Marialuisa Quadri, Gerard D. Schellenberg, Wang Z. Chiu, John C. van Swieten, Frank Jan de Jong, Adam C. Naj, Agnita J.W. Boon, Dennis W. Dickson, Shamiram Melhem, Owen A. Ross, Demy J.S. Kuipers, Elizabeth Mlynarksi, Laura Donker Kaat, Laura B. Cantwell

المساهمون: Neurology, Clinical Genetics

المصدر: Neurobiol Aging
Neurobiology of Aging, 94. Elsevier Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, medicine.medical_specialty, Disease, Article, Progressive supranuclear palsy, Cohort Studies, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Internal medicine, Exome Sequencing, medicine, Humans, LDL-Receptor Related Proteins, Aged, Sanger sequencing, business.industry, Dementia with Lewy bodies, General Neuroscience, Genetic Variation, Exons, Middle Aged, medicine.disease, eye diseases, 030104 developmental biology, Cohort, symbols, Female, Neurology (clinical), Supranuclear Palsy, Progressive, Geriatrics and Gerontology, business, Validation cohort, 030217 neurology & neurosurgery, Developmental Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::126b5755ee761ed3c28c290fb5e8a465
https://europepmc.org/articles/PMC8281359/