Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Charlotte Kilstrup‐Nielsen"'
Autor:
Angelisa Frasca, Eleonora Spiombi, Michela Palmieri, Elena Albizzati, Maria Maddalena Valente, Anna Bergo, Barbara Leva, Charlotte Kilstrup‐Nielsen, Federico Bianchi, Valerio Di Carlo, Ferdinando Di Cunto, Nicoletta Landsberger
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 6, Pp 1-18 (2020)
Abstract Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best‐defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activi
Externí odkaz:
https://doaj.org/article/b33103f72f62419ba99b856dddd50402
Autor:
Gilda Stefanelli, Anna Gandaglia, Mario Costa, Manjinder S. Cheema, Daniele Di Marino, Isabella Barbiero, Charlotte Kilstrup-Nielsen, Juan Ausió, Nicoletta Landsberger
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/a7e47d1e73524e08906128d0d9449ef5
Autor:
Isabella Barbiero, Davide Valente, Chetan Chandola, Fiorenza Magi, Anna Bergo, Laura Monteonofrio, Marco Tramarin, Maria Fazzari, Silvia Soddu, Nicoletta Landsberger, Cinzia Rinaldo, Charlotte Kilstrup-Nielsen
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
Abstract The cyclin-dependent kinase-like 5 (CDKL5) gene has been associated with rare neurodevelopmental disorders characterized by the early onset of seizures and intellectual disability. The CDKL5 protein is widely expressed in most tissues and ce
Externí odkaz:
https://doaj.org/article/fbcbc72f52974687a41eb08fed046097
Autor:
Clementina Cobolli Gigli, Linda Scaramuzza, Anna Gandaglia, Elisa Bellini, Marina Gabaglio, Daniela Parolaro, Charlotte Kilstrup-Nielsen, Nicoletta Landsberger, Francesco Bedogni
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153473 (2016)
MECP2 mutations cause a number of neurological disorders of which Rett syndrome (RTT) represents the most thoroughly analysed condition. Many Mecp2 mouse models have been generated through the years; their validity is demonstrated by the presence of
Externí odkaz:
https://doaj.org/article/9a946b3a11db447781c8aaa5891ed67a
Autor:
Mohammad Sarfaraz Nawaz, Elisa Giarda, Francesco Bedogni, Paolo La Montanara, Sara Ricciardi, Dalila Ciceri, Tiziana Alberio, Nicoletta Landsberger, Laura Rusconi, Charlotte Kilstrup-Nielsen
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148634 (2016)
In the last years, the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene has been associated with epileptic encephalopathies characterized by the early onset of intractable epilepsy, severe developmental delay, autistic features, and often the dev
Externí odkaz:
https://doaj.org/article/614f3e4d5c11438a970eaa86df942e29
Autor:
Ralph D Hector, Owen Dando, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen, Peter C Kind, Mark E S Bailey, Stuart R Cobb
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157758 (2016)
Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding reg
Externí odkaz:
https://doaj.org/article/9a584d0583cf4017904a95080225be63
Autor:
Valentina Conti, Anna Gandaglia, Francesco Galli, Mario Tirone, Elisa Bellini, Lara Campana, Charlotte Kilstrup-Nielsen, Patrizia Rovere-Querini, Silvia Brunelli, Nicoletta Landsberger
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0130183 (2015)
Rett syndrome (RTT) is an autism spectrum disorder mainly caused by mutations in the X-linked MECP2 gene and affecting roughly 1 out of 10.000 born girls. Symptoms range in severity and include stereotypical movement, lack of spoken language, seizure
Externí odkaz:
https://doaj.org/article/323f8fdb0d9a4c39963e0824b5004316
Autor:
Charlotte Kilstrup-Nielsen, Laura Rusconi, Paolo La Montanara, Dalila Ciceri, Anna Bergo, Francesco Bedogni, Nicoletta Landsberger
Publikováno v:
Neural Plasticity, Vol 2012 (2012)
In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of li
Externí odkaz:
https://doaj.org/article/53a5c07b60b2436aa84c4e742f6a6862
Autor:
Samira Abdulai-Saiku, Stanley H. Appel, Arthur P. Arnold, Lisa M. Arnold, Robert M. Arnold, Alexa Bacha, Miroslav 'Misha' Backonja, Zinzi D. Bailey, Lucinda Bateman, David R. Beers, Anna Berti, Mamta Bhatnagar, Devin K. Binder, Marina Boido, Maura Boldrini, David Borsook, Xandra O. Breakefield, Robert H. Brown, Rami Burstein, Eduardo R. Butelman, Louis R. Caplan, S. Chen, Marie-Françoise Chesselet, Stefan Clemens, Paula R. Clemens, Joseph T. Coyle, John C. DeWitt, Dena B. Dubal, Veljko Dubljević, Eva L. Feldman, Beth A. Fischer, M.C. Flux, J.S. Fortin, Angelisa Frasca, Francesca Garbarini, Thomas Gasser, Charles F. Gillespie, Michael S. Gold, Stefan M. Gold, Randi Hagerman, Regan Hamel, Craig Haney, James C. Harris, Sara Hassani, Norman J. Haughey, Vibol Heng, J. Horn, Rosana-Bristena Ionescu, Raffaele Iorio, David J. Irwin, Henry J. Kaminski, Dalia Khammash, Vikram Khurana, Charlotte Kilstrup-Nielsen, Bhumsoo Kim, Boram Kim, Marieke Klein, Nastassja Koen, Glenn T. Konopaske, Joanna A. Korecka, Birgitte Rahbek Kornum, Mary Jeanne Kreek, Krister Kristensson, Grzegorz Krzak, Linda L. Kusner, Nicoletta Landsberger, Edward B. Lee, Tong Li, Paweł P. Liberski, Christine Lochner, Christopher A. Lowry, J. John Mann, Clara Marincowitz, E.A. Mayer, E.D. Mayer, Iris Coates McCall, Louise D. McCullough, Michael J. Meaney, Claudio Melo de Gusmao, Abhishek L. Menesgere, Emmanuel Mignot, William C. Mobley, Mayra Montalvo, Alisha R. Moreland-Capuia, Marco Neppi-Modona, Alexandra M. Nicaise, Rae Nishi, Orna O'Toole, Cassia Overk, Laurie Ozelius, Matthew P. Parsons, H.B. Penticoff, Luca Peruzzotti-Jametti, Owen M. Peters, Allison Peterson, Jessica M. Phan, Sean J. Pittock, Stefano Pluchino, Thad A. Polk, Araya Puwanant, Shreya K. Rajagopal, Vijayalakshmi Ravindranath, Lynn A. Raymond, Brian Reed, Kerry J. Ressler, Diane L. Ritchie, Leah H. Rubin, Stacey A. Sakowski, Mario A. Saporta, Alena V. Savonenko, Helen E. Scharfman, Bruce K. Shapiro, Nutan Sharma, Cayce K. Shaw, Michael E. Shy, Beata Sikorska, Ethan J. Silverman, Roger P. Simon, Kristina Simonyan, Catrina Sims-Robinson, Richard Jay Smeyne, Clay Smith, Colin Smith, Sharan R. Srinivasan, Dan J. Stein, Christopher D. Stephen, Indu Subramanian, Edina Szabo, Alissa A. Thomas, Luis B. Tovar-y-Romo, Arshya Vahabzadeh, Alessandro Vercelli, Ashley Viera-Ortiz, Mitchell T. Wallin, Donna M. Werling, Thomas Wichmann, Clayton A. Wiley, David R. Williams, Cory Willis, Philip C. Wong, Vadim Yuferov, Weihua Zhao, Michael J. Zigmond, Saša A. Živković
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::243fdcc9a4e15e7cb9744b08ed648667
https://doi.org/10.1016/b978-0-323-85654-6.01002-9
https://doi.org/10.1016/b978-0-323-85654-6.01002-9
