Статті в журналах з теми "CDKL deficiency disorder"
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Mukhin, K. Yu, O. A. Pylaeva, M. Yu Bobylova, and V. A. Chadaev. "Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations." Russian Journal of Child Neurology 16, no. 1-2 (July 30, 2021): 10–41. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-10-41.
Повний текст джерелаDemarest, Scott, Elia M. Pestana-Knight, Heather E. Olson, Jenny Downs, Eric D. Marsh, Walter E. Kaufmann, Carol-Anne Partridge, et al. "Severity Assessment in CDKL5 Deficiency Disorder." Pediatric Neurology 97 (August 2019): 38–42. http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.017.
Повний текст джерелаKadam, Shilpa D., Brennan J. Sullivan, Archita Goyal, Mary E. Blue, and Constance Smith-Hicks. "Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic." International Journal of Molecular Sciences 20, no. 20 (October 15, 2019): 5098. http://dx.doi.org/10.3390/ijms20205098.
Повний текст джерелаJakimiec, Martyna, Justyna Paprocka, and Robert Śmigiel. "CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy." Brain Sciences 10, no. 2 (February 17, 2020): 107. http://dx.doi.org/10.3390/brainsci10020107.
Повний текст джерелаBrock, Dylan, Andrea Fidell, Jacob Thomas, Elizabeth Juarez-Colunga, Tim A. Benke, and Scott Demarest. "Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement." Journal of Child Neurology 36, no. 11 (September 22, 2021): 974–80. http://dx.doi.org/10.1177/08830738211019284.
Повний текст джерелаJhang, Cian-Ling, Hom-Yi Lee, Jin-Chung Chen, and Wenlin Liao. "Dopaminergic loss of cyclin-dependent kinase-like 5 recapitulates methylphenidate-remediable hyperlocomotion in mouse model of CDKL5 deficiency disorder." Human Molecular Genetics 29, no. 14 (June 26, 2020): 2408–19. http://dx.doi.org/10.1093/hmg/ddaa122.
Повний текст джерелаBarbiero, Isabella, Roberta De Rosa, and Charlotte Kilstrup-Nielsen. "Microtubules: A Key to Understand and Correct Neuronal Defects in CDKL5 Deficiency Disorder?" International Journal of Molecular Sciences 20, no. 17 (August 21, 2019): 4075. http://dx.doi.org/10.3390/ijms20174075.
Повний текст джерелаLa Montanara, Paolo, Arnau Hervera, Lucas L. Baltussen, Thomas H. Hutson, Ilaria Palmisano, Francesco De Virgiliis, Guiping Kong, et al. "Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models." Science Translational Medicine 12, no. 551 (July 8, 2020): eaax4846. http://dx.doi.org/10.1126/scitranslmed.aax4846.
Повний текст джерелаJagtap, Smita, Jessica M. Thanos, Ting Fu, Jennifer Wang, Jasmin Lalonde, Thomas O. Dial, Ariel Feiglin, et al. "Aberrant mitochondrial function in patient-derived neural cells from CDKL5 deficiency disorder and Rett syndrome." Human Molecular Genetics 28, no. 21 (September 13, 2019): 3625–36. http://dx.doi.org/10.1093/hmg/ddz208.
Повний текст джерелаGill, Deepak. "A potential new treatment for CDKL5 deficiency disorder." Lancet Neurology 21, no. 5 (May 2022): 394–95. http://dx.doi.org/10.1016/s1474-4422(22)00127-2.
Повний текст джерелаRodak, Małgorzata, Mariola Jonderko, Patrycja Rozwadowska, Magdalena Machnikowska-Sokołowska, and Justyna Paprocka. "CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male." Children 9, no. 12 (November 24, 2022): 1806. http://dx.doi.org/10.3390/children9121806.
Повний текст джерелаPeikes, Tyler, Jessica N. Hartley, Aizeddin A. Mhanni, Cheryl R. Greenberg, and Juan Pablo Appendino. "Reflex Seizures in a Patient with CDKL5 Deficiency Disorder." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 46, no. 04 (April 29, 2019): 482–85. http://dx.doi.org/10.1017/cjn.2019.29.
Повний текст джерелаMorkous, Sameh S. "Quality Of Life in Individuals with CDKL5 Deficiency Disorder." Pediatric Neurology Briefs 36 (December 30, 2022): 5. http://dx.doi.org/10.15844/pedneurbriefs-36-5.
Повний текст джерелаPatnaik, Abhisarika, Eleonora Spiombi, Angelisa Frasca, Nicoletta Landsberger, Marta Zagrebelsky, and Martin Korte. "Fingolimod Modulates Dendritic Architecture in a BDNF-Dependent Manner." International Journal of Molecular Sciences 21, no. 9 (April 27, 2020): 3079. http://dx.doi.org/10.3390/ijms21093079.
Повний текст джерелаDe Rosa, Roberta De, Serena Valastro, Clara Cambria, Isabella Barbiero, Carolina Puricelli, Marco Tramarin, Silvia Randi, Massimiliano Bianchi, Flavia Antonucci, and Charlotte Kilstrup-Nielsen. "Loss of CDKL5 Causes Synaptic GABAergic Defects That Can Be Restored with the Neuroactive Steroid Pregnenolone-Methyl-Ether." International Journal of Molecular Sciences 24, no. 1 (December 21, 2022): 68. http://dx.doi.org/10.3390/ijms24010068.
Повний текст джерелаKatayama, Syouichi, Noriyuki Sueyoshi, Tetsuya Inazu, and Isamu Kameshita. "Cyclin-Dependent Kinase-Like 5 (CDKL5): Possible Cellular Signalling Targets and Involvement in CDKL5 Deficiency Disorder." Neural Plasticity 2020 (June 5, 2020): 1–14. http://dx.doi.org/10.1155/2020/6970190.
Повний текст джерелаLupori, Leonardo, Giulia Sagona, Claudia Fuchs, Raffaele Mazziotti, Antonia Stefanov, Elena Putignano, Debora Napoli, Enrica Strettoi, Elisabetta Ciani, and Tommaso Pizzorusso. "Site-specific abnormalities in the visual system of a mouse model of CDKL5 deficiency disorder." Human Molecular Genetics 28, no. 17 (April 24, 2019): 2851–61. http://dx.doi.org/10.1093/hmg/ddz102.
Повний текст джерелаHector, Ralph D., Vera M. Kalscheuer, Friederike Hennig, Helen Leonard, Jenny Downs, Angus Clarke, Tim A. Benke, et al. "CDKL5 variants." Neurology Genetics 3, no. 6 (December 2017): e200. http://dx.doi.org/10.1212/nxg.0000000000000200.
Повний текст джерелаTassinari, Marianna, Nicola Mottolese, Giuseppe Galvani, Domenico Ferrara, Laura Gennaccaro, Manuela Loi, Giorgio Medici, et al. "Luteolin Treatment Ameliorates Brain Development and Behavioral Performance in a Mouse Model of CDKL5 Deficiency Disorder." International Journal of Molecular Sciences 23, no. 15 (August 5, 2022): 8719. http://dx.doi.org/10.3390/ijms23158719.
Повний текст джерелаLeonard, Helen, Mohammed Junaid, Kingsley Wong, Alex A. Aimetti, Elia Pestana Knight, and Jenny Downs. "Influences on the trajectory and subsequent outcomes in CDKL5 deficiency disorder." Epilepsia 63, no. 2 (November 27, 2021): 352–63. http://dx.doi.org/10.1111/epi.17125.
Повний текст джерелаMacKay, Conor I., David Bick, Jeremy W. Prokop, Ivan Muñoz, John Rouse, Jenny Downs, and Helen Leonard. "Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?" American Journal of Medical Genetics Part A 182, no. 5 (February 8, 2020): 1217–22. http://dx.doi.org/10.1002/ajmg.a.61504.
Повний текст джерелаHong, William, Isabel Haviland, Elia Pestana-Knight, Judith L. Weisenberg, Scott Demarest, Eric D. Marsh, and Heather E. Olson. "CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment." CNS Drugs 36, no. 6 (May 28, 2022): 591–604. http://dx.doi.org/10.1007/s40263-022-00921-5.
Повний текст джерелаBenke, Tim A., and Peter C. Kind. "Proof-of-concept for a gene replacement approach to CDKL5 deficiency disorder." Brain 143, no. 3 (March 1, 2020): 716–18. http://dx.doi.org/10.1093/brain/awaa055.
Повний текст джерелаDemarest, Scott T., Heather E. Olson, Angela Moss, Elia Pestana‐Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C. Swanson, et al. "CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development." Epilepsia 60, no. 8 (July 16, 2019): 1733–42. http://dx.doi.org/10.1111/epi.16285.
Повний текст джерелаDi Nardo, Alessia, Alina Rühmkorf, Patricia Award, Ashton Brennecke, Michela Fagiolini, and Mustafa Sahin. "Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder." Neuroscience Research 176 (March 2022): 73–78. http://dx.doi.org/10.1016/j.neures.2021.10.001.
Повний текст джерелаLoi, Manuela, Laura Gennaccaro, Claudia Fuchs, Stefania Trazzi, Giorgio Medici, Giuseppe Galvani, Nicola Mottolese та ін. "Treatment with a GSK-3β/HDAC Dual Inhibitor Restores Neuronal Survival and Maturation in an In Vitro and In Vivo Model of CDKL5 Deficiency Disorder". International Journal of Molecular Sciences 22, № 11 (31 травня 2021): 5950. http://dx.doi.org/10.3390/ijms22115950.
Повний текст джерелаSiri, Barbara, Costanza Varesio, Elena Freri, Francesca Darra, Simone Gana, Davide Mei, Francesco Porta, et al. "CDKL5 deficiency disorder in males: Five new variants and review of the literature." European Journal of Paediatric Neurology 33 (July 2021): 9–20. http://dx.doi.org/10.1016/j.ejpn.2021.04.007.
Повний текст джерелаVan Bergen, Nicole J., Sean Massey, Tegan Stait, Molly Ellery, Boris Reljić, Luke E. Formosa, Anita Quigley, et al. "Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder." Neurobiology of Disease 155 (July 2021): 105370. http://dx.doi.org/10.1016/j.nbd.2021.105370.
Повний текст джерелаAppendino, Juan Pablo. "Hypermotor-tonic-spasms seizure sequence related to CDKL5 deficiency disorder: a typical case." Epileptic Disorders 24, no. 6 (December 1, 2022): 1–2. http://dx.doi.org/10.1684/epd.2022.1480.
Повний текст джерелаMacKay, Conor I., Kingsley Wong, Scott T. Demarest, Tim A. Benke, Jenny Downs, and Helen Leonard. "Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset." Clinical Genetics 99, no. 1 (October 20, 2020): 157–65. http://dx.doi.org/10.1111/cge.13862.
Повний текст джерелаDale, Tristan, Jenny Downs, Heather Olson, Ann Marie Bergin, Stephanie Smith, and Helen Leonard. "Cannabis for refractory epilepsy in children: A review focusing on CDKL5 Deficiency Disorder." Epilepsy Research 151 (March 2019): 31–39. http://dx.doi.org/10.1016/j.eplepsyres.2019.02.001.
Повний текст джерелаElagib, Kamaleldin E., Ivailo S. Mihaylov, Lorrie L. Delehanty, Grant C. Bullock, Kevin D. Ouma, Jill F. Caronia, Sara L. Gonias, and Adam N. Goldfarb. "Cross-talk of GATA-1 and P-TEFb in megakaryocyte differentiation." Blood 112, no. 13 (December 15, 2008): 4884–94. http://dx.doi.org/10.1182/blood-2008-03-145722.
Повний текст джерелаBao, Junxiang, Guangbi Li, Xinxu Yuan, Pin-Lan Li, and Erich Gulbins. "Contribution of p62 to Phenotype Transition of Coronary Arterial Myocytes with Defective Autophagy." Cellular Physiology and Biochemistry 41, no. 2 (2017): 555–68. http://dx.doi.org/10.1159/000457877.
Повний текст джерелаFrasca, Angelisa, Efterpi Pavlidou, Matteo Bizzotto, Yunan Gao, Dario Balestra, Mirko Pinotti, Hans Atli Dahl, Nicholas D. Mazarakis, Nicoletta Landsberger, and Maria Kinali. "Not Just Loss-of-Function Variations." Neurology Genetics 8, no. 2 (March 9, 2022): e666. http://dx.doi.org/10.1212/nxg.0000000000000666.
Повний текст джерелаYennawar, Madhumita, Rachel S. White, and Frances E. Jensen. "AMPA Receptor Dysregulation and Therapeutic Interventions in a Mouse Model of CDKL5 Deficiency Disorder." Journal of Neuroscience 39, no. 24 (April 5, 2019): 4814–28. http://dx.doi.org/10.1523/jneurosci.2041-18.2019.
Повний текст джерелаPizzo, R., A. Lamarca, M. Sassoè-Pognetto, and M. Giustetto. "Structural Bases of Atypical Whisker Responses in a Mouse Model of CDKL5 Deficiency Disorder." Neuroscience 445 (October 2020): 130–43. http://dx.doi.org/10.1016/j.neuroscience.2019.08.033.
Повний текст джерелаLim, Zhan, Kingsley Wong, Jenny Downs, Keely Bebbington, Scott Demarest, and Helen Leonard. "Vagus nerve stimulation for the treatment of refractory epilepsy in the CDKL5 Deficiency Disorder." Epilepsy Research 146 (October 2018): 36–40. http://dx.doi.org/10.1016/j.eplepsyres.2018.07.013.
Повний текст джерелаSaldaris, Jacinta M., Peter Jacoby, Helen Leonard, Tim A. Benke, Scott Demarest, Eric D. Marsh, and Jenny Downs. "Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials." Epilepsy & Behavior 139 (February 2023): 109069. http://dx.doi.org/10.1016/j.yebeh.2022.109069.
Повний текст джерелаYoshimura, Yuri, Atsushi Morii, Yuuki Fujino, Marina Nagase, Arisa Kitano, Shiho Ueno, Kyoka Takeuchi, Riko Yamashita, and Tetsuya Inazu. "Comprehensive In Silico Functional Prediction Analysis of CDKL5 by Single Amino Acid Substitution in the Catalytic Domain." International Journal of Molecular Sciences 23, no. 20 (October 14, 2022): 12281. http://dx.doi.org/10.3390/ijms232012281.
Повний текст джерелаDevinsky, Orrin, LaToya King, Judith Bluvstein, and Daniel Friedman. "Ataluren for drug‐resistant epilepsy in nonsense variant‐mediated Dravet syndrome and CDKL5 deficiency disorder." Annals of Clinical and Translational Neurology 8, no. 3 (February 4, 2021): 639–44. http://dx.doi.org/10.1002/acn3.51306.
Повний текст джерелаDale, Tristan, Jenny Downs, Kingsley Wong, and Helen Leonard. "The perceived effects of cannabis products in the management of seizures in CDKL5 Deficiency Disorder." Epilepsy & Behavior 122 (September 2021): 108152. http://dx.doi.org/10.1016/j.yebeh.2021.108152.
Повний текст джерелаKluckova, Daniela, Miriam Kolnikova, Veronika Medova, Csaba Bognar, Tomas Foltan, Lucia Svecova, Andrej Gnip, Ludevit Kadasi, Andrea Soltysova, and Andrej Ficek. "Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients." Epilepsy Research 176 (October 2021): 106699. http://dx.doi.org/10.1016/j.eplepsyres.2021.106699.
Повний текст джерелаTangarorang, Jodilee, Helen Leonard, Amy Epstein, and Jenny Downs. "A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorder." American Journal of Medical Genetics Part A 179, no. 2 (December 18, 2018): 249–56. http://dx.doi.org/10.1002/ajmg.a.61012.
Повний текст джерелаFuchs, Claudia, Laura Gennaccaro, Elisa Ren, Giuseppe Galvani, Stefania Trazzi, Giorgio Medici, Manuela Loi, et al. "Pharmacotherapy with sertraline rescues brain development and behavior in a mouse model of CDKL5 deficiency disorder." Neuropharmacology 167 (May 2020): 107746. http://dx.doi.org/10.1016/j.neuropharm.2019.107746.
Повний текст джерелаLeonard, Helen, Mohammed Junaid, Kingsley Wong, Scott Demarest, and Jenny Downs. "Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder." Epilepsy Research 169 (January 2021): 106521. http://dx.doi.org/10.1016/j.eplepsyres.2020.106521.
Повний текст джерелаAledo-Serrano, Ángel, Patricia Gómez-Iglesias, Rafael Toledano, Juan Jose Garcia-Peñas, Irene Garcia-Morales, Carla Anciones, Victor Soto-Insuga, Timothy A. Benke, Isabel del Pino, and Antonio Gil-Nagel. "Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort." Epilepsy & Behavior 118 (May 2021): 107946. http://dx.doi.org/10.1016/j.yebeh.2021.107946.
Повний текст джерелаTalamo, M. C., M. Pellas, C. Urbinati, L. Cosentino, and B. De Filippis. "P.236 Inhibition of p21-activated kinase rescues disrupted phenotype in a mouse model of CDKL5 deficiency disorder." European Neuropsychopharmacology 31 (February 2020): S45—S46. http://dx.doi.org/10.1016/j.euroneuro.2019.12.062.
Повний текст джерелаAdemuwagun, Ibitayo Abigail, Gbolahan Oladipupo Oduselu, Solomon Oladapo Rotimi, and Ezekiel Adebiyi. "Pharmacophore-Aided Virtual Screening and Molecular Dynamics Simulation Identifies TrkB Agonists for Treatment of CDKL5-Deficiency Disorders." Bioinformatics and Biology Insights 17 (January 2023): 117793222311582. http://dx.doi.org/10.1177/11779322231158254.
Повний текст джерелаGorbenko Del Blanco, Darya, Laura C. G. de Graaff, Dirk Posthouwer, Theo J. Visser, and Anita C. S. Hokken-Koelega. "Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes." European Journal of Endocrinology 165, no. 4 (October 2011): 537–44. http://dx.doi.org/10.1530/eje-11-0478.
Повний текст джерелаTerzic, Barbara, Yue Cui, Andrew C. Edmondson, Sheng Tang, Nicolas Sarmiento, Daria Zaitseva, Eric D. Marsh, Douglas A. Coulter, and Zhaolan Zhou. "X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder." Neurobiology of Disease 148 (January 2021): 105176. http://dx.doi.org/10.1016/j.nbd.2020.105176.
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