المؤلفون: Melissa H. Broeks, Nils W.F. Meijer, Denise Westland, Marjolein Bosma, Johan Gerrits, Hannah M. German, Jolita Ciapaite, Clara D.M. van Karnebeek, Ronald J.A. Wanders, Fried J.T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J.M. Jans

المصدر: Cell Reports, Vol 42, Iss 9, Pp 113043- (2023)

مصطلحات موضوعية: CP: Metabolism, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124723010549; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/ac08eb6204fc47578f078cc37db1f420

المؤلفون: Wout J Weuring, Sakshi Singh, Linda Volkers, Martin B Rook, Ruben H van 't Slot, Marjolein Bosma, Marco Inserra, Irina Vetter, Nanda M Verhoeven-Duif, Kees P J Braun, Mirko Rivara, Bobby P C Koeleman

المصدر: PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/6bee8c3f2c6649e9a69da93d49666e56

المؤلفون: Monique Albersen, Marjolein Bosma, Judith J M Jans, Floris C Hofstede, Peter M van Hasselt, Monique G M de Sain-van der Velden, Gepke Visser, Nanda M Verhoeven-Duif

المصدر: PLoS ONE, Vol 10, Iss 3, p e0120972 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4356616?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/00831343381649e5981fad5b4cb0d96a

المؤلفون: Monique Albersen, Marjolein Bosma, Nine V V A M Knoers, Berna H B de Ruiter, Eugène F Diekman, Jessica de Ruijter, Wouter F Visser, Tom J de Koning, Nanda M Verhoeven-Duif

المصدر: PLoS ONE, Vol 8, Iss 1, p e54113 (2013)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3544708?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/ecb17a6321e44639acc700d73b65319e

المؤلفون: Wanhao Chi, Atulya S R Iyengar, Monique Albersen, Marjolein Bosma, Nanda M Verhoeven-Duif, Chun-Fang Wu, Xiaoxi Zhuang

المصدر: Hum Mol Genet

مصطلحات موضوعية: Epilepsy, Behavior, Animal, Brain Diseases, Metabolic, Correction, Brain, General Medicine, Animal Feed, Pyridoxaminephosphate Oxidase, Disease Models, Animal, Drosophila melanogaster, Phenotype, Seizures, Gene Knockdown Techniques, Hypoxia-Ischemia, Brain, Mutation, Genetics, Animals, Humans, Genes, Lethal, Genetic Predisposition to Disease, RNA Interference, Molecular Biology, Genetics (clinical), Genetic Association Studies, Metabolic Networks and Pathways

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a48dddba514687eb0c0c3504a922522e
https://europepmc.org/articles/PMC9396934/

المؤلفون: Marjolein Bosma, Johan Gerrits, Nico Lansu, Judith J.M. Jans, Nanda M. Verhoeven-Duif, Jeroen Bakkers, Jolita Ciapaite, Susan Zwakenberg, Gijs van Haaften, Sanne M C Savelberg, Monique Albersen, Fried J. T. Zwartkruis, Federico Tessadori

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1866(3). Elsevier
Biochimica et Biophysica Acta-Molecular Basis of Disease. Elsevier B.V.

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Pyridoxamine 5′-phosphate oxidase (PNPO) deficiency, PNPO, Synaptic Transmission, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Metabolic Diseases, Seizures, Internal medicine, medicine, Journal Article, Animals, Amino Acids, Pyridoxal, Zebrafish, Vitamin B, Molecular Biology, chemistry.chemical_classification, Oxidase test, biology, Brain Diseases, Metabolic, Glutamate receptor, Pyridoxal 5′-phosphate (PLP), Pyridoxine, biology.organism_classification, Pyridoxaminephosphate Oxidase, Amino acid, 030104 developmental biology, Endocrinology, chemistry, Pyridoxal Phosphate, Hypoxia-Ischemia, Brain, Molecular Medicine, Pyridoxamine, Oxidoreductases, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: text/plain; image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::276fc7ad9232518c6a7c3c7274795eae
https://dspace.library.uu.nl/handle/1874/395818

المؤلفون: Vishal Saxena, Nathalie Lepage, Marc Ekker, Kate Daniel, Alex MacKenzie, Izabella A. Pena, Pranesh Chakraborty, David A. Dyment, Kym M. Boycott, Devon L. Johnstone, Hellen Weinschutz Mendes, Yann Roussel, Marjolein Bosma, Tuan V. Bui, Clara D.M. van Karnebeek, Kevin Mongeon, Nanda M. Verhoeven-Duif

المساهمون: ANS - Cellular & Molecular Mechanisms, Other departments

المصدر: Genetics, 207(4), 1501. Genetics Society of America
Genetics, 207(4), 1501-1518. Genetics Society of America
Genetics

مصطلحات موضوعية: Developmental and Behavioral Genetics, 0301 basic medicine, Pathogenesis, Gene Knockout Techniques, chemistry.chemical_compound, Epilepsy, 0302 clinical medicine, heterocyclic compounds, Pyridoxine-dependent epilepsy, Zebrafish, gamma-Aminobutyric Acid, education.field_of_study, aldh7a1, Pyridoxine, 3. Good health, medicine.drug, medicine.medical_specialty, animal structures, Population, macromolecular substances, Investigations, Biology, gamma-Aminobutyric acid, 03 medical and health sciences, Seizures, Internal medicine, Genetics, medicine, Animals, Humans, education, Pyridoxal, Lysine, fungi, lysine metabolism, pyridoxine-dependent epilepsy, Aldehyde Dehydrogenase, medicine.disease, biology.organism_classification, Vitamin B 6, Disease Models, Animal, 030104 developmental biology, Endocrinology, chemistry, Mutation, metabolic epilepsy, sense organs, zebrafish model, 030217 neurology & neurosurgery

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f920ed81f236cc0c5a8ec6cd8e2d411
https://doi.org/10.1534/genetics.117.300137

المؤلفون: Marco Inserra, Wout J. Weuring, Kees P.J. Braun, Linda Volkers, Nanda M. Verhoeven-Duif, Ruben van 't Slot, Irina Vetter, Sakshi Singh, Bobby P. C. Koeleman, Mirko Rivara, Martin B. Rook, Marjolein Bosma

مصطلحات موضوعية: biology, Dravet syndrome, Activator (genetics), NAV1, Convulsant, medicine, CRISPR, biology.organism_classification, medicine.disease, Zebrafish, Phenotype, Gene knockout, Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc52538826dd5c801e76d4e0b623fd96

المؤلفون: Susan Zwakenberg, Ruben Ramos, Nanda M. Verhoeven-Duif, Judith J.M. Jans, Monique Albersen, Esmee Vringer, Fried J. T. Zwartkruis, Marjolein Bosma

المصدر: Biochimica et biophysica acta-General subjects, 1863(6), 1088. Elsevier

مصطلحات موضوعية: 0301 basic medicine, Biophysics, Reductase, AKR1B1 and AKR1B10, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Journal Article, Humans, Molecular Biology, Pyridoxal, chemistry.chemical_classification, Oxidase test, Vitamin B6 vitamers, KCNAB2, Pyridoxal phosphatase, Pyridoxine, Vitamin B6 salvage pathway, Hep G2 Cells, Metabolism, Pyridoxal kinase, Vitamin B 6, Alcohol Oxidoreductases, HEK293 Cells, 030104 developmental biology, Enzyme, chemistry, Pyridoxal reductase, Caco-2 Cells, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe836eb3a57fbf0a2871f3475934fe5f
https://dspace.library.uu.nl/handle/1874/381773

المؤلفون: Sakshi Singh, Bobby P. C. Koeleman, Martin B. Rook, Marjolein Bosma, Marco Inserra, Mirko Rivara, Kees P.J. Braun, Linda Volkers, Ruben van 't Slot, Nanda M. Verhoeven-Duif, Irina Vetter, Wout J. Weuring

المصدر: PLoS ONE
PLoS ONE, Vol 15, Iss 3, p e0219106 (2020)

مصطلحات موضوعية: 0301 basic medicine, Life Cycles, Embryology, Morpholino, Physiology, Action Potentials, Epilepsies, Myoclonic, Biochemistry, Ion Channels, Morpholinos, Epilepsy, Larvae, 0302 clinical medicine, Medicine and Health Sciences, Zebrafish, gamma-Aminobutyric Acid, Neurons, Voltage-Gated Sodium Channel Blockers, Multidisciplinary, biology, Physics, Eukaryota, Animal Models, Phenotype, Cell biology, Electrophysiology, Experimental Organism Systems, Neurology, Osteichthyes, Vertebrates, Physical Sciences, Medicine, Anticonvulsants, Locomotion, RNA, Guide, Kinetoplastida, Research Article, Science, Biophysics, Neurophysiology, Research and Analysis Methods, Membrane Potential, 03 medical and health sciences, Model Organisms, Dravet syndrome, medicine, Animals, Humans, RNA, Messenger, Swimming, Gene knockout, Biological Locomotion, Embryos, Organisms, Biology and Life Sciences, Proteins, Voltage-Gated Sodium Channel Agonists, Zebrafish Proteins, GABA receptor antagonist, medicine.disease, biology.organism_classification, NAV1.1 Voltage-Gated Sodium Channel, Disease Models, Animal, Fish, 030104 developmental biology, Mutagenesis, NAV1.6 Voltage-Gated Sodium Channel, NAV1, Animal Studies, Pentylenetetrazole, 030217 neurology & neurosurgery, Developmental Biology, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21a15ebd50083e960554e4f55903c0a9
https://doi.org/10.1371/journal.pone.0219106