المؤلفون: Elsa C. Kuijper, Maurice Overzier, Ernst Suidgeest, Oleh Dzyubachyk, Cécile Maguin, Jean-Baptiste Pérot, Julien Flament, Yavuz Ariyurek, Hailiang Mei, Ronald A.M. Buijsen, Louise van der Weerd, Willeke van Roon-Mom

المصدر: Neurobiology of Disease, Vol 190, Iss , Pp 106368- (2024)

مصطلحات موضوعية: Huntington disease, YAC128 mice, Antisense oligonucleotides, Caspase-6, RNA splicing, RNA sequence analysis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996123003844; https://doaj.org/toc/1095-953X

URL الوصول: https://doaj.org/article/0b4874be3df4497fb539494749184266

المؤلفون: Lodewijk J. A. Toonen, Maurice Overzier, Melvin M. Evers, Leticia G. Leon, Sander A. J. van der Zeeuw, Hailiang Mei, Szymon M. Kielbasa, Jelle J. Goeman, Kristina M. Hettne, Olafur Th. Magnusson, Marion Poirel, Alexandre Seyer, Peter A. C. ‘t Hoen, Willeke M. C. van Roon-Mom

المصدر: Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-18 (2018)

مصطلحات موضوعية: Spinocerebellar ataxia type 3, Mouse model, RNA sequencing, Metabolomics, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13024-018-0261-9; https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/cf4ff2d151824bce86e17f157244572b

المؤلفون: Nienke M. van de Velde, Zaïda Koeks, Mirko Signorelli, Nisha Verwey, Maurice Overzier, Jaap A. Bakker, Gautam Sajeev, James Signorovitch, Valeria Ricotti, Jan Verschuuren, Kristy Brown, Pietro Spitali, Erik H. Niks

المصدر: Neurology, 100(9), E975-E984. LIPPINCOTT WILLIAMS & WILKINS
Neurology

مصطلحات موضوعية: Neurology (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3a57db93bedb6271d9c761dcf773bd2
https://hdl.handle.net/1887/3590525

المؤلفون: Elsa Kuijper, Maurice Overzier, Ernst Suidgeest, Louise van der Weerd, Lodewijk Toonen, Willeke van Roon-Mom

المصدر: I: Experimental therapeutics – preclinical.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::35b99691e81fa0ba90d769e865f75213
https://doi.org/10.1136/jnnp-2022-ehdn.228

المؤلفون: Julie W. Rutten, Johannes G. Dauwerse, Rainer Malik, Andrew J. Saykin, Remco J. Hack, Gido Gravesteijn, Saskia A J Lesnik Oberstein, Maurice Overzier, Henne Holstege, Marco Duering, Erik B. van den Akker, Martin Dichgans, Kwangsik Nho, Eline Slagboom

المساهمون: Amsterdam Neuroscience - Neurodegeneration, Human genetics

المصدر: Neurology, 95(13), E1835-E1843. LIPPINCOTT WILLIAMS & WILKINS
Rutten, J W, Hack, R J, Duering, M, Gravesteijn, G, Dauwerse, J G, Overzier, M, van den Akker, E B, Slagboom, E, Holstege, H, Nho, K, Saykin, A, Dichgans, M, Malik, R & Lesnik Oberstein, S A J 2020, ' Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank : CADASIL to nonpenetrance ', Neurology, vol. 95, no. 13, pp. e1835-e1843 . https://doi.org/10.1212/WNL.0000000000010525
Neurology, 95(13), e1835-e1843. Lippincott Williams and Wilkins
Neurology, 95(13)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, business.industry, Case-control study, Pedigree chart, Disease, 030204 cardiovascular system & hematology, medicine.disease, Biobank, Penetrance, Leukoencephalopathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Neurology (clinical), CADASIL, business, Exome, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f39b7f7c5f0b0463227a9d27931d60b1
http://www.scopus.com/inward/record.url?scp=85091956861&partnerID=8YFLogxK

المؤلفون: Julie W. Rutten, Annemieke Aartsma-Rus, Maurice Overzier, Johannes G. Dauwerse, Frank Baas, Gido Gravesteijn, Saskia A J Lesnik Oberstein, Mark C. Kruit, Sjoerd G. van Duinen, Aat A. Mulder, Gwendolyn Brouwer, Ingrid M Hegeman, Carolina R. Jost, Gisela M. Terwindt

المساهمون: Human Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Human molecular genetics, 29(11), 1853-1863. Oxford University Press
Human Molecular Genetics, 29(11), 1853-1863. OXFORD UNIV PRESS
Human Molecular Genetics

مصطلحات موضوعية: Adult, Male, AcademicSubjects/SCI01140, 0301 basic medicine, Pathology, medicine.medical_specialty, small vessel disease, Biopsy, CADASIL, Biology, medicine.disease_cause, Protein Aggregation, Pathological, Severity of Illness Index, protein aggregation, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, NOTCH3, Genetics, medicine, Humans, Cysteine, Receptor, Notch3, Molecular Biology, Gene, Genetics (clinical), Aged, Skin, Sanger sequencing, Mutation, Exons, General Medicine, Middle Aged, medicine.disease, Magnetic Resonance Imaging, White Matter, Phenotype, Exon skipping, Hyperintensity, 030104 developmental biology, symbols, Female, General Article, CRISPR-Cas Systems, 030217 neurology & neurosurgery, exon skipping

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d26330e58697822b18aeb6110cef5d93
https://doi.org/10.1093/hmg/ddz285

المؤلفون: Annemieke Aartsma-Rus, Vidya Krishnan, Laurent P. Bogdanik, Maurice Overzier, Cathleen M. Lutz, Miranda D. Grounds

المصدر: Molecular and Cellular Neuroscience, 105. ACADEMIC PRESS INC ELSEVIER SCIENCE

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Duchenne muscular dystrophy, mdx mouse, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Necrosis, s100 beta, Neuromuscular Junction, tau Proteins, S100 Calcium Binding Protein beta Subunit, Biology, Tau5, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, mdx and D2.mdx mice neurodegeneration, medicine, Animals, Muscle, Skeletal, Molecular Biology, Denervation, Dystrophic nerves, Neurodegeneration, Cell Biology, medicine.disease, musculoskeletal system, Muscular Dystrophy, Duchenne, Disease Models, Animal, 030104 developmental biology, Mice, Inbred mdx, Biomarker (medicine), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c036a9dea4d289e0d689e93b9af8539
http://hdl.handle.net/1887/3184632

المؤلفون: Abraham J. Koster, Maurice Overzier, Leon P. Munting, Ingrid M Hegeman, Carolina R. Jost, Arn M. J. M. van den Maagdenberg, Louise van der Weerd, Aat A. Mulder, Sjoerd G. van Duinen, Saskia A J Lesnik Oberstein, Gido Gravesteijn, Annemieke Aartsma-Rus, Marc Derieppe, Julie W. Rutten, Onno C. Meijer

المصدر: Translational Stroke Research. SPRINGER
Translational Stroke Research

مصطلحات موضوعية: 0301 basic medicine, Genetically modified mouse, Pathology, medicine.medical_specialty, Cerebral small vessel disease, Mice, Transgenic, CADASIL, 03 medical and health sciences, 0302 clinical medicine, Disease severity, NOTCH3, medicine, Animals, Humans, In patient, Receptor, Notch3, Staging system, Human studies, business.industry, General Neuroscience, Advanced stage, Disease progression, Brain, Electron microscopy (EM), Cerebrovascular reactivity (CVR), medicine.disease, Granular osmiophilic material (GOM), Mice, Inbred C57BL, 030104 developmental biology, Cerebrovascular Circulation, Original Article, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dc6321891a2d2288dc3f7769d585468
http://hdl.handle.net/1887/121685

المؤلفون: Maaike van Putten, Jaap J. Plomp, W. Adamzek, Maurice Overzier, Annemieke Aartsma-Rus, Kayleigh Putker, Svetlana Pasteuning-Vuhman

المصدر: FASEB Journal, 33(7), 8110-8124

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, mdx mouse, Duchenne muscular dystrophy, Physiology, Disease, Biochemistry, calcification, 03 medical and health sciences, 0302 clinical medicine, Fibrosis, Genetics, medicine, Muscular dystrophy, Molecular Biology, business.industry, muscle function, Regeneration (biology), fibrosis, musculoskeletal system, medicine.disease, Natural history, 030104 developmental biology, regeneration, pathology, business, 030217 neurology & neurosurgery, Natural history study, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358b244fbd3b1c6e6a715c481f60586e
http://hdl.handle.net/1887/120818

المؤلفون: Maaike, van Putten, Kayleigh, Putker, Maurice, Overzier, W A, Adamzek, Svetlana, Pasteuning-Vuhman, Jaap J, Plomp, Annemieke, Aartsma-Rus

المصدر: The FASEB Journal

مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, muscle function, Research, fibrosis, Muscular Dystrophy, Animal, musculoskeletal system, Muscular Dystrophy, Duchenne, calcification, Disease Models, Animal, Mice, regeneration, Mice, Inbred mdx, Animals, Female, pathology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0540d747adb858cf676092543013e65e
https://pubmed.ncbi.nlm.nih.gov/30933664