Статті в журналах з теми "Rett syndrome MeCP2"
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Liyanage, Vichithra R. B., and Mojgan Rastegar. "Rett Syndrome and MeCP2." NeuroMolecular Medicine 16, no. 2 (March 11, 2014): 231–64. http://dx.doi.org/10.1007/s12017-014-8295-9.
Повний текст джерелаFeldman, Danielle, Abhishek Banerjee, and Mriganka Sur. "Developmental Dynamics of Rett Syndrome." Neural Plasticity 2016 (2016): 1–9. http://dx.doi.org/10.1155/2016/6154080.
Повний текст джерелаBouzroud, Wafaa, Amal Tazzite, Sarah Berrada, Bouchaïb Gazzaz, and Hind Dehbi. "R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report." Clinical Pathology 15 (January 2022): 2632010X2211242. http://dx.doi.org/10.1177/2632010x221124269.
Повний текст джерелаTang, Xin, Julie Kim, Li Zhou, Eric Wengert, Lei Zhang, Zheng Wu, Cassiano Carromeu, et al. "KCC2 rescues functional deficits in human neurons derived from patients with Rett syndrome." Proceedings of the National Academy of Sciences 113, no. 3 (January 5, 2016): 751–56. http://dx.doi.org/10.1073/pnas.1524013113.
Повний текст джерелаCollins, Bridget E., and Jeffrey L. Neul. "Rett Syndrome and MECP2 Duplication Syndrome: Disorders of MeCP2 Dosage." Neuropsychiatric Disease and Treatment Volume 18 (November 2022): 2813–35. http://dx.doi.org/10.2147/ndt.s371483.
Повний текст джерелаSaxena, Alka, Dave Tang, and Piero Carninci. "piRNAs Warrant Investigation in Rett Syndrome: An Omics Perspective." Disease Markers 33, no. 5 (2012): 261–75. http://dx.doi.org/10.1155/2012/396737.
Повний текст джерелаEhinger, Yann, Valerie Matagne, Laurent Villard, and Jean-Christophe Roux. "Rett syndrome from bench to bedside: recent advances." F1000Research 7 (March 26, 2018): 398. http://dx.doi.org/10.12688/f1000research.14056.1.
Повний текст джерелаIbrahim, Abdulkhaleg, Christophe Papin, Kareem Mohideen-Abdul, Stéphanie Le Gras, Isabelle Stoll, Christian Bronner, Stefan Dimitrov, Bruno P. Klaholz, and Ali Hamiche. "MeCP2 is a microsatellite binding protein that protects CA repeats from nucleosome invasion." Science 372, no. 6549 (June 24, 2021): eabd5581. http://dx.doi.org/10.1126/science.abd5581.
Повний текст джерелаKyle, Stephanie M., Neeti Vashi, and Monica J. Justice. "Rett syndrome: a neurological disorder with metabolic components." Open Biology 8, no. 2 (February 2018): 170216. http://dx.doi.org/10.1098/rsob.170216.
Повний текст джерелаPecorelli, Alessandra, Valeria Cordone, Maria Lucia Schiavone, Carla Caffarelli, Carlo Cervellati, Gaetana Cerbone, Stefano Gonnelli, Joussef Hayek, and Giuseppe Valacchi. "Altered Bone Status in Rett Syndrome." Life 11, no. 6 (June 3, 2021): 521. http://dx.doi.org/10.3390/life11060521.
Повний текст джерелаMarano, Domenico, Salvatore Fioriniello, Maurizio D’Esposito, and Floriana Della Ragione. "Transcriptomic and Epigenomic Landscape in Rett Syndrome." Biomolecules 11, no. 7 (June 30, 2021): 967. http://dx.doi.org/10.3390/biom11070967.
Повний текст джерелаMillichap, J. Gordon. "MECP2 Mutations and Rett Syndrome Phenotypes." Pediatric Neurology Briefs 14, no. 5 (May 1, 2000): 39. http://dx.doi.org/10.15844/pedneurbriefs-14-5-10.
Повний текст джерелаSamaco, R. C., and J. L. Neul. "Complexities of Rett Syndrome and MeCP2." Journal of Neuroscience 31, no. 22 (June 1, 2011): 7951–59. http://dx.doi.org/10.1523/jneurosci.0169-11.2011.
Повний текст джерелаWebb, T. "Rett syndrome and the MECP2 gene." Journal of Medical Genetics 38, no. 4 (April 1, 2001): 217–23. http://dx.doi.org/10.1136/jmg.38.4.217.
Повний текст джерелаLee, Kenneth. "Mouse Mecp2 knockouts and Rett syndrome." Genome Biology 2 (2001): spotlight—20010309–02. http://dx.doi.org/10.1186/gb-spotlight-20010309-02.
Повний текст джерелаGauthier, Julie, Giovana de Amorim, Gevork N. Mnatzakanian, Carol Saunders, John B. Vincent, Sylvie Toupin, David Kauffman, et al. "Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 32, no. 3 (August 2005): 321–26. http://dx.doi.org/10.1017/s0317167100004200.
Повний текст джерелаCronk, James, Noel Derecki, Aleksandra Djukic, and Jonathan Kipnis. "Immunologic dysfunction underlies pathology in a mouse model of Rett syndrome. (111.52)." Journal of Immunology 188, no. 1_Supplement (May 1, 2012): 111.52. http://dx.doi.org/10.4049/jimmunol.188.supp.111.52.
Повний текст джерелаCappuccio, Donti, Pinelli, Bernardo, Bravaccio, Elsea, and Brunetti-Pierri. "Sphingolipid Metabolism Perturbations in Rett Syndrome." Metabolites 9, no. 10 (October 10, 2019): 221. http://dx.doi.org/10.3390/metabo9100221.
Повний текст джерелаDad, Rubina, Humaira Aziz Sawal, Arsalan Ahmad, Muhammad Ikram Ullah, and Muhammad Jawad Hassan. "Rett Syndrome without MECP2 Mutation in a Pakistani Girl." Life and Science 1, no. 2 (April 14, 2020): 3. http://dx.doi.org/10.37185/lns.1.1.77.
Повний текст джерелаBird, Adrian. "The methyl-CpG-binding protein MeCP2 and neurological disease." Biochemical Society Transactions 36, no. 4 (July 22, 2008): 575–83. http://dx.doi.org/10.1042/bst0360575.
Повний текст джерелаGadalla, Kamal K. E., Mark E. S. Bailey, and Stuart R. Cobb. "MeCP2 and Rett syndrome: reversibility and potential avenues for therapy." Biochemical Journal 439, no. 1 (September 14, 2011): 1–14. http://dx.doi.org/10.1042/bj20110648.
Повний текст джерелаLima, Fernanda T. de, Decio Brunoni, José Salomão Schwartzman, Maria Cristina Pozzi, Fernando Kok, Yara Juliano, and Lygia da Veiga Pereira. "Genotype-phenotype correlation in Brazillian Rett syndrome patients." Arquivos de Neuro-Psiquiatria 67, no. 3a (September 2009): 577–84. http://dx.doi.org/10.1590/s0004-282x2009000400001.
Повний текст джерелаKriaucionis, Skirmantas, Andrew Paterson, John Curtis, Jacky Guy, Nikki MacLeod, and Adrian Bird. "Gene Expression Analysis Exposes Mitochondrial Abnormalities in a Mouse Model of Rett Syndrome." Molecular and Cellular Biology 26, no. 13 (July 1, 2006): 5033–42. http://dx.doi.org/10.1128/mcb.01665-05.
Повний текст джерелаStachon, Andrea, Francisco Baptista Assumpção Jr, and Salmo Raskin. "Rett syndrome: clinical and molecular characterization of two Brazilian patients." Arquivos de Neuro-Psiquiatria 65, no. 1 (March 2007): 36–40. http://dx.doi.org/10.1590/s0004-282x2007000100009.
Повний текст джерелаDjarmati, A., V. Dobričić, M. Kecmanović, P. Marsh, J. Jančić-Stefanović, C. Klein, M. Djurić, and S. Romac. "MECP2 mutations in Serbian Rett syndrome patients." Acta Neurologica Scandinavica 116, no. 6 (December 2007): 413–19. http://dx.doi.org/10.1111/j.1600-0404.2007.00893.x.
Повний текст джерелаSung Jae Lee, Stephen, Mimi Wan, and Uta Francke. "Spectrum of MECP2 mutations in Rett syndrome." Brain and Development 23 (December 2001): S138—S143. http://dx.doi.org/10.1016/s0387-7604(01)00339-4.
Повний текст джерелаXiang, F., Y. Stenbom, and M. Anvret. "MECP2 mutations in Swedish Rett syndrome clusters." Clinical Genetics 61, no. 5 (May 2002): 384–85. http://dx.doi.org/10.1034/j.1399-0004.2002.610512.x.
Повний текст джерелаBienvenu, Thierry, Laurent Villard, Nicolas De Roux, Violaine Bourdon, Michel Fontes, Cherif Beldjord, Marc Tardieu, Philippe Jonveaux, and Jamel Chelly. "Spectrum of MECP2 Mutations in Rett Syndrome." Genetic Testing 6, no. 1 (March 2002): 1–6. http://dx.doi.org/10.1089/109065702760093843.
Повний текст джерелаFischer, Marc, Julia Reuter, Florian J. Gerich, Belinda Hildebrandt, Sonja Hägele, Dörthe Katschinski, and Michael Müller. "Enhanced Hypoxia Susceptibility in Hippocampal Slices From a Mouse Model of Rett Syndrome." Journal of Neurophysiology 101, no. 2 (February 2009): 1016–32. http://dx.doi.org/10.1152/jn.91124.2008.
Повний текст джерелаZachariah, Robby Mathew, and Mojgan Rastegar. "Linking Epigenetics to Human Disease and Rett Syndrome: The Emerging Novel and Challenging Concepts in MeCP2 Research." Neural Plasticity 2012 (2012): 1–10. http://dx.doi.org/10.1155/2012/415825.
Повний текст джерелаJohnson, Rebecca A., Maxine Lam, Antonio M. Punzo, Hongda Li, Benjamin R. Lin, Keqiang Ye, Gordon S. Mitchell, and Qiang Chang. "7,8-dihydroxyflavone exhibits therapeutic efficacy in a mouse model of Rett syndrome." Journal of Applied Physiology 112, no. 5 (March 1, 2012): 704–10. http://dx.doi.org/10.1152/japplphysiol.01361.2011.
Повний текст джерелаMerritt, Jonathan K., Bridget E. Collins, Kirsty R. Erickson, Hongwei Dong, and Jeffrey L. Neul. "Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome." Human Molecular Genetics 29, no. 15 (May 29, 2020): 2461–70. http://dx.doi.org/10.1093/hmg/ddaa102.
Повний текст джерелаCobb, Stuart, Jacky Guy, and Adrian Bird. "Reversibility of functional deficits in experimental models of Rett syndrome." Biochemical Society Transactions 38, no. 2 (March 22, 2010): 498–506. http://dx.doi.org/10.1042/bst0380498.
Повний текст джерелаSchmidt, Annika, Hui Zhang, and M. Cristina Cardoso. "MeCP2 and Chromatin Compartmentalization." Cells 9, no. 4 (April 3, 2020): 878. http://dx.doi.org/10.3390/cells9040878.
Повний текст джерелаDziwota, Ewelina, Urszula Fałkowska, Katarzyna Adamczyk, Dorota Adamczyk, Alena Stefańska, Justyna Pawęzka, and Marcin Olajossy. "Silent angels the genetic and clinical aspects of Rett syndrome." Current Problems of Psychiatry 17, no. 4 (December 1, 2016): 282–96. http://dx.doi.org/10.1515/cpp-2016-0028.
Повний текст джерелаDamen, Daniela, and Rolf Heumann. "MeCP2 phosphorylation in the brain: from transcription to behavior." Biological Chemistry 394, no. 12 (December 1, 2013): 1595–605. http://dx.doi.org/10.1515/hsz-2013-0193.
Повний текст джерелаBhattacherjee, Aritra, Ying Mu, Michelle K. Winter, Jennifer R. Knapp, Linda S. Eggimann, Sumedha S. Gunewardena, Kazuto Kobayashi, Shigeki Kato, Dora Krizsan-Agbas, and Peter G. Smith. "Neuronal cytoskeletal gene dysregulation and mechanical hypersensitivity in a rat model of Rett syndrome." Proceedings of the National Academy of Sciences 114, no. 33 (July 31, 2017): E6952—E6961. http://dx.doi.org/10.1073/pnas.1618210114.
Повний текст джерелаDuncan Armstrong, Dawna, Kimiko Deguchi, and Bobbie Antallfy. "Survey of MeCP2 in the Rett Syndrome and the Non—Rett Syndrome Brain." Journal of Child Neurology 18, no. 10 (October 2003): 683–87. http://dx.doi.org/10.1177/08830738030180100601.
Повний текст джерелаKucukkal, Tugba G., and Rijul U. Amin. "Computational and structural studies of MeCP2 and associated mutants." Journal of Theoretical and Computational Chemistry 19, no. 06 (July 8, 2020): 2041001. http://dx.doi.org/10.1142/s0219633620410011.
Повний текст джерелаHaase, Florencia, Brian S. Gloss, Patrick P. L. Tam, and Wendy A. Gold. "WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome." International Journal of Molecular Sciences 22, no. 18 (September 15, 2021): 9954. http://dx.doi.org/10.3390/ijms22189954.
Повний текст джерелаRangasamy, Sampathkumar, Shannon Olfers, Brittany Gerald, Alex Hilbert, Sean Svejda, and Vinodh Narayanan. "Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model." F1000Research 5 (September 8, 2016): 2269. http://dx.doi.org/10.12688/f1000research.8156.1.
Повний текст джерелаPandey, Somnath, and Kevin Pruitt. "Functional assessment of MeCP2 in Rett syndrome and cancers of breast, colon, and prostate." Biochemistry and Cell Biology 95, no. 3 (June 2017): 368–78. http://dx.doi.org/10.1139/bcb-2016-0154.
Повний текст джерелаEhinger, Yann, Valerie Matagne, Valérie Cunin, Emilie Borloz, Michel Seve, Sandrine Bourgoin-Voillard, Ana Borges-Correia, Laurent Villard, and Jean-Christophe Roux. "Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome." International Journal of Molecular Sciences 22, no. 9 (April 21, 2021): 4316. http://dx.doi.org/10.3390/ijms22094316.
Повний текст джерелаLi, Wei, Xin Xu, and Lucas Pozzo-Miller. "Excitatory synapses are stronger in the hippocampus of Rett syndrome mice due to altered synaptic trafficking of AMPA-type glutamate receptors." Proceedings of the National Academy of Sciences 113, no. 11 (February 29, 2016): E1575—E1584. http://dx.doi.org/10.1073/pnas.1517244113.
Повний текст джерелаZlatanova, Jordanka. "MeCP2: the chromatin connection and beyond." Biochemistry and Cell Biology 83, no. 3 (June 1, 2005): 251–62. http://dx.doi.org/10.1139/o05-048.
Повний текст джерелаBuist, Marjorie, Nada El Tobgy, Danilo Shevkoplyas, Matthew Genung, Annan Ali Sher, Shervin Pejhan, and Mojgan Rastegar. "Differential Sensitivity of the Protein Translation Initiation Machinery and mTOR Signaling to MECP2 Gain- and Loss-of-Function Involves MeCP2 Isoform-Specific Homeostasis in the Brain." Cells 11, no. 9 (April 24, 2022): 1442. http://dx.doi.org/10.3390/cells11091442.
Повний текст джерелаDe Filippis, Bianca, Mattia Musto, Luisa Altabella, Emilia Romano, Rossella Canese, and Giovanni Laviola. "Deficient Purposeful Use of Forepaws in Female Mice Modelling Rett Syndrome." Neural Plasticity 2015 (2015): 1–13. http://dx.doi.org/10.1155/2015/326184.
Повний текст джерелаCortelazzo, Alessio, Claudio De Felice, Bianca De Filippis, Laura Ricceri, Giovanni Laviola, Silvia Leoncini, Cinzia Signorini, et al. "Persistent Unresolved Inflammation in the Mecp2-308 Female Mutated Mouse Model of Rett Syndrome." Mediators of Inflammation 2017 (2017): 1–9. http://dx.doi.org/10.1155/2017/9467819.
Повний текст джерелаQiu, Z., E. L. Sylwestrak, D. N. Lieberman, Y. Zhang, X. Y. Liu, and A. Ghosh. "The Rett Syndrome Protein MeCP2 Regulates Synaptic Scaling." Journal of Neuroscience 32, no. 3 (January 18, 2012): 989–94. http://dx.doi.org/10.1523/jneurosci.0175-11.2012.
Повний текст джерелаSheen, Volney, Isaac M. Valencia, and Alcy R. Torres. "Atypical Features in MECP2 P152R–Associated Rett Syndrome." Pediatric Neurology 49, no. 2 (August 2013): 124–26. http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.037.
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