المؤلفون: Fadi A. Issa, Allan F. Mock, Alvaro Sagasti, Diane M. Papazian

المصدر: Disease Models & Mechanisms, Vol 5, Iss 6, Pp 921-929 (2012)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/5/6/921; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/c69954009fee4873b0c6763005ee4637

المؤلفون: Jui-Yi eHsieh, Brittany eUlrich, Fadi A. Issa, Jijun eWan, Diane M. Papazian

المصدر: Frontiers in Neural Circuits, Vol 8 (2014)

مصطلحات موضوعية: Cerebellum, Zebrafish, Purkinje cell, patch clamp, climbing fiber, parallel fiber, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fncir.2014.00147/full; https://doaj.org/toc/1662-5110

URL الوصول: https://doaj.org/article/70ed78e8f40643b4890433117c3df897

المؤلفون: Selvan Bavan, Howard P. Goodkin, Diane M. Papazian

المصدر: Human mutationREFERENCES. 43(9)

مصطلحات موضوعية: Male, Kinetics, Shal Potassium Channels, Mutation, Genetics, Humans, Epilepsy, Generalized, Ion Channel Gating, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274190a197223f244de12b3d9025ba14
https://pubmed.ncbi.nlm.nih.gov/35510384

المؤلفون: Brandon Brown, Fadi A. Issa, Brittany Ulrich, Diane M. Papazian, Meng-chin A. Lin, Jui-Yi Hsieh

المصدر: eLife, Vol 9 (2020)
eLife

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, Programmed cell death, cerebellum, Cell Survival, QH301-705.5, Science, Purkinje cell, Synaptogenesis, degeneration, General Biochemistry, Genetics and Molecular Biology, Purkinje Cells, 03 medical and health sciences, spinocerebellar ataxia, 0302 clinical medicine, In vivo, excitability, medicine, Cerebellar Degeneration, Animals, Spinocerebellar Ataxias, Biology (General), Zebrafish, General Immunology and Microbiology, biology, General Neuroscience, Age Factors, General Medicine, Zebrafish Proteins, medicine.disease, biology.organism_classification, Cell biology, Disease Models, Animal, 030104 developmental biology, medicine.anatomical_structure, Shaw Potassium Channels, cerebellar development, Mutation, Spinocerebellar ataxia, Medicine, 030217 neurology & neurosurgery, Research Article, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbeb67baefda06e2cb741c98f7bf4087
https://doi.org/10.7554/elife.57358

المؤلفون: Jui-Yi Hsieh, Diane M. Papazian, Meng-chin A. Lin, Brandon Brown, Brittany Ulrich, Fadi A. Issa

مصطلحات موضوعية: medicine.anatomical_structure, In vivo, Purkinje cell, medicine, Biology, Affect (psychology), Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::40519fa39f91c7038a9ff9c32b63a257
https://doi.org/10.7554/elife.57358.sa2

المؤلفون: Stephen C. Cannon, Meng-chin A. Lin, Diane M. Papazian

المصدر: Proceedings of the National Academy of Sciences of the United States of America, vol 115, iss 15
Lin, MCA; Cannon, SC; & Papazian, DM. (2018). Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening. Proceedings of the National Academy of Sciences of the United States of America, 115(15), E3559-E3568. doi: 10.1073/pnas.1717082115. UCLA: Retrieved from: http://www.escholarship.org/uc/item/04d820cq

مصطلحات موضوعية: 0301 basic medicine, Patch-Clamp Techniques, Gating, Transfection, gain-of-function mutation, Membrane Potentials, 03 medical and health sciences, Epilepsy, Xenopus laevis, closed-state inactivation, Genetic, Voltage sensor, medicine, Animals, Humans, Autistic Disorder, Polymorphism, A-type current, Multidisciplinary, Polymorphism, Genetic, Chemistry, K+ channel gating, De novo mutation, Kv Channel-Interacting Proteins, medicine.disease, Coupling (electronics), Repressor Proteins, 030104 developmental biology, Shal Potassium Channels, PNAS Plus, somatodendritic, Mutation (genetic algorithm), Mutation, Biophysics, Excitatory postsynaptic potential, Oocytes, Autism, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b93a4f438b2fe8aecf56ff2f92cec0cd
https://escholarship.org/uc/item/04d820cq

المؤلفون: Diane M. Papazian, Jui-Yi Hsieh

المصدر: Neuromethods ISBN: 9781493975488

مصطلحات موضوعية: 0301 basic medicine, biology, Chemistry, Purkinje cell, biology.organism_classification, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Extracellular, Zebrafish, Neuroscience, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7e5d4f7164539cbfae33b32d6623e652
https://doi.org/10.1007/978-1-4939-7549-5_11

المؤلفون: Jui-Yi, Hsieh, Diane M, Papazian

المصدر: Methods in molecular biology (Clifton, N.J.). 1684

مصطلحات موضوعية: Animals, Genetically Modified, Purkinje Cells, Patch-Clamp Techniques, Action Potentials, Animals, Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c33a08114c2af51a76b64df42cdd7453
https://pubmed.ncbi.nlm.nih.gov/29058196

المؤلفون: Diane M. Papazian, Jui-Yi Hsieh

المصدر: Methods in Molecular Biology ISBN: 9781493973613

مصطلحات موضوعية: 0301 basic medicine, Cerebellum, ved/biology, Purkinje cell, ved/biology.organism_classification_rank.species, Biology, biology.organism_classification, 03 medical and health sciences, Electrophysiology, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, medicine, Extracellular, Patch clamp, Model organism, Neuroscience, Zebrafish, 030217 neurology & neurosurgery, Ion channel

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b28f92d1d13f52fd45f35e1613c866ea
https://doi.org/10.1007/978-1-4939-7362-0_18

المؤلفون: Diane M. Papazian, Meng-chin A. Lin, Hane Lee, Harley I. Kornblum, Stanley F. Nelson

المصدر: Lee, H; Lin, MCA; Kornblum, HI; Papazian, DM; & Nelson, SF. (2014). Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Human Molecular Genetics, 23(13), 3481-3489. doi: 10.1093/hmg/ddu056. UCLA: Retrieved from: http://www.escholarship.org/uc/item/60q8s66w
Human molecular genetics, vol 23, iss 13

مصطلحات موضوعية: Male, Potassium Channels, Intellectual and Developmental Disabilities (IDD), Autism, Protein subunit, Mutant, Mutation, Missense, Neurodegenerative, Biology, medicine.disease_cause, Medical and Health Sciences, Seizures, Mutant protein, Genetics, medicine, 2.1 Biological and endogenous factors, Humans, Missense mutation, Exome, Aetiology, Autistic Disorder, Molecular Biology, Genetics (clinical), Exome sequencing, Pediatric, Genetics & Heredity, Mutation, Epilepsy, Neurosciences, Articles, General Medicine, Biological Sciences, Potassium channel, Brain Disorders, Pedigree, Electrophysiology, Mental Health, Shal Potassium Channels, Neurological, Female, Missense

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e71a78644234279c09d3fb07b1326988
https://doi.org/10.1093/hmg/ddu056