المؤلفون: Khanam, Taran, Muñoz, Ivan, Weiland, Florian, Carroll, Thomas, Morgan, Michael, Borsos, Barbara N., Pantazi, Vasiliki, Slean, Meghan, Novak, Miroslav, Toth, Rachel, Appleton, Paul, Pankotai, Tibor, Zhou, Houjiang, Rouse, John

المصدر: Khanam , T , Muñoz , I , Weiland , F , Carroll , T , Morgan , M , Borsos , B N , Pantazi , V , Slean , M , Novak , M , Toth , R , Appleton , P , Pankotai , T , Zhou , H & Rouse , J 2021 , ' CDKL5 kinase controls transcription-coupled responses to DNA damage ' , EMBO Journal , vol. 40 , no. 23 , e108271 . https://doi.org/10.15252/embj.2021108271Test

مصطلحات موضوعية: CDKL5 disorder, DNA damage response, kinase, poly(ADP-ribose), transcriptional regulation, /dk/atira/pure/subjectarea/asjc/2800/2800, name=General Neuroscience, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1300, name=General Biochemistry,Genetics and Molecular Biology, /dk/atira/pure/subjectarea/asjc/2400/2400, name=General Immunology and Microbiology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/05543846-6629-4f29-a2fa-d28518093434Test

الإتاحة: https://doi.org/10.15252/embj.2021108271Test
https://discovery.dundee.ac.uk/en/publications/05543846-6629-4f29-a2fa-d28518093434Test
https://discovery.dundee.ac.uk/ws/files/66932474/embj.2021108271.pdfTest
http://www.scopus.com/inward/record.url?scp=85116117426&partnerID=8YFLogxKTest

المؤلفون: Jenny Downs, Helen Leonard, Alex A Aimetti, Kingsley Wong, Elia M. Pestana Knight, Mohammed Junaid

المصدر: Epilepsia. 63:352-363

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, CDKL5, Protein Serine-Threonine Kinases, Confidence interval, Developmental trajectory, Neurology, Quality of life, Seizures, CDKL5 Disorder, Quality of Life, Seizure control, Humans, Medicine, Clinical severity, Neurology (clinical), Seizure count, Child, business, Epileptic Syndromes, Spasms, Infantile

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f13e9576ba999dd9a3d8d72b0d5d7b2Test
https://doi.org/10.1111/epi.17125Test

المؤلفون: Claudia Fuchs, Roberto Rimondini, Rocchina Viggiano, Stefania Trazzi, Marianna De Franceschi, Renata Bartesaghi, Elisabetta Ciani

المصدر: Neurobiology of Disease, Vol 82, Iss , Pp 298-310 (2015)

مصطلحات موضوعية: CDKL5 disorder, Encephalopathy, Pharmacotherapy, GSK3β inhibitor, Rescue of hippocampal developmental, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996115300036Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/6c2f54b1e7b84be5a7d9a62aea7633feTest

المؤلفون: Munoz, Ivan, Morgan, Michael, Peltier, Julien, Weiland, Florian, Gregorczyk, Mateusz, Brown, Fiona C. M., Macartney, Thomas, Toth, Rachel, Trost, Matthias, Rouse, John

المصدر: Munoz , I , Morgan , M , Peltier , J , Weiland , F , Gregorczyk , M , Brown , F C M , Macartney , T , Toth , R , Trost , M & Rouse , J 2018 , ' Phosphoproteomic screening identifies physiological substrates of the CDKL5 kinase ' , The EMBO Journal , vol. 37 , no. 24 , e99559 , pp. 1-19 . https://doi.org/10.15252/embj.201899559Test

مصطلحات موضوعية: CDKL5 disorder, centrosome, cilia, kinase, microtubule, /dk/atira/pure/subjectarea/asjc/2800/2800, name=General Neuroscience, /dk/atira/pure/subjectarea/asjc/1300/1312, name=Molecular Biology, /dk/atira/pure/subjectarea/asjc/1300/1300, name=General Biochemistry,Genetics and Molecular Biology, /dk/atira/pure/subjectarea/asjc/2400/2400, name=General Immunology and Microbiology

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/549dd875-2fe0-4671-9fdf-4c431a3af96fTest

الإتاحة: https://doi.org/10.15252/embj.201899559Test
https://discovery.dundee.ac.uk/en/publications/549dd875-2fe0-4671-9fdf-4c431a3af96fTest
https://discovery.dundee.ac.uk/ws/files/28608828/embj.201899559.full.pdfTest
http://www.scopus.com/inward/record.url?scp=85054063318&partnerID=8YFLogxKTest

المؤلفون: Claudia Fuchs, Stefania Trazzi, Roberta Torricella, Rocchina Viggiano, Marianna De Franceschi, Elena Amendola, Cornelius Gross, Laura Calzà, Renata Bartesaghi, Elisabetta Ciani

المصدر: Neurobiology of Disease, Vol 70, Iss , Pp 53-68 (2014)

مصطلحات موضوعية: CDKL5 disorder, Rett's syndrome, Neurodevelopmental disorders, Neurogenesis impairment, Dendritic development, AKT/GSK-3β signaling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996114001703Test; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/56d69a350f244ab1ad2903db4297f04bTest

المؤلفون: Ivan Muñoz, Helen Leonard, John Rouse, Jeremy W. Prokop, Jenny Downs, David P. Bick, Conor I. MacKay

المصدر: American Journal of Medical Genetics Part A. 182:1217-1222

مصطلحات موضوعية: business.industry, CDKL5, medicine.disease, Bioinformatics, Phenotype, Neurodevelopmental disorder, Altered Mental Status, CDKL5 Disorder, Intellectual disability, Genetics, Medicine, Kinase activity, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b8433820261f3b98e6b98a64ddc09ad8Test
https://doi.org/10.1002/ajmg.a.61504Test

المؤلفون: Houjiang Zhou, Paul L. Appleton, Miroslav Novak, Florian Weiland, Rachel Toth, Vasiliki Pantazi, Michael E Morgan, Barbara N. Borsos, John Rouse, Meghan Slean, Taran Khanam, Tibor Pankotai, Thomas D. Carroll, Ivan Muñoz

المصدر: The EMBO Journal

مصطلحات موضوعية: Proteomics, Transcriptional Activation, poly(ADP‐ribose), Poly Adenosine Diphosphate Ribose, kinase, DNA damage, Elongin, CDKL5 disorder, DNA Replication, Recombination & Repair, Protein Serine-Threonine Kinases, Biology, DNA damage response, Article, General Biochemistry, Genetics and Molecular Biology, chemistry.chemical_compound, Post-translational Modifications & Proteolysis, Transcription (biology), medicine, Transcriptional regulation, Humans, transcriptional regulation, DNA Breaks, Double-Stranded, Phosphorylation, Kinase activity, Molecular Biology, Gene, Neurons, General Immunology and Microbiology, Kinase, General Neuroscience, Articles, Phosphoproteins, Cell biology, Cell nucleus, medicine.anatomical_structure, chemistry, Mutation, Epileptic Syndromes, Spasms, Infantile, DNA, DNA Damage

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b3d10e294aab6c1073385a05713b2dcTest
https://doi.org/10.15252/embj.2021108271Test

المؤلفون: Mangatt, Meghana, Wong, Kingsley, Anderson, Barbara, Epstein, Amy, Hodgetts, Stuart, Leonard, Helen, Downs, Jenny

مصطلحات موضوعية: CDKL5 disorder, Rett syndrome, Comorbidities, Cyclin dependent kinase-like 5 gene, MECP2

العلاقة: http://www.ojrd.com/content/11/1/39Test

الإتاحة: http://www.ojrd.com/content/11/1/39Test

المؤلفون: Fehr, Stephanie, Leonard, Helen, Ho, Gladys, Williams, Simon, de Klerk, Nick, Forbes, David, Christodoulou, John, Downs, Jenny

مصطلحات موضوعية: CDKL5 disorder, Developmental disabilities, Epileptic encephalopathy, Early infantile epileptic encephalopathy

العلاقة: http://www.jneurodevdisorders.com/content/7/1/2Test

الإتاحة: http://www.jneurodevdisorders.com/content/7/1/2Test

المؤلفون: Robert Śmigiel, Justyna Paprocka, Martyna Jakimiec

المصدر: Brain Sciences
Brain Sciences, Vol 10, Iss 2, p 107 (2020)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Opinion, CDKL5, Disease, lcsh:RC321-571, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, children, medicine, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, X chromosome, Psychomotor learning, 0303 health sciences, business.industry, General Neuroscience, Epileptic encephalopathy, 030305 genetics & heredity, medicine.disease, Natural history, CDKL5 deficiency disorder, CDKL5 Disorder, epilepsy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afc1d928c32ccc8764652ccb698d257fTest
https://pubmed.ncbi.nlm.nih.gov/32079229Test