Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Javier Flores Gutiérrez"'
Autor:
Javier Flores Gutiérrez, Claudio De Felice, Giulia Natali, Silvia Leoncini, Cinzia Signorini, Joussef Hayek, Enrico Tongiorgi
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-20 (2020)
Abstract Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mec
Externí odkaz:
https://doaj.org/article/e9c206f504bc44938e584a685ba6c052
Autor:
Véronique Brault, Thu Lan Nguyen, Javier Flores-Gutiérrez, Giovanni Iacono, Marie-Christine Birling, Valérie Lalanne, Hamid Meziane, Antigoni Manousopoulou, Guillaume Pavlovic, Loïc Lindner, Mohammed Selloum, Tania Sorg, Eugene Yu, Spiros D Garbis, Yann Hérault
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009777 (2021)
Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function mutations in the DYRK1A gene, located on human chromosome 21
Externí odkaz:
https://doaj.org/article/d01eb288fea740cd83a75fa843e3f2c8
Rett Syndrome (RTT) is a rare X-linked neurodevelopmental disorder, mainly caused by mutations in the MECP2 gene. Reduction in monoamine levels in RTT patients and mouse models suggested the possibility to rescue clinical phenotypes through antidepre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::de9f1ecd538f7ca5638961af2644b423
https://doi.org/10.1101/2021.12.17.473107
https://doi.org/10.1101/2021.12.17.473107
Publikováno v:
Experimental neurology. 353
Rett Syndrome (RTT) is a rare X-linked neurodevelopmental disorder, mainly caused by mutations in the MECP2 gene. Reduction in monoamine levels in RTT patients and mouse models suggested the possibility to rescue clinical phenotypes through antidepre
Autor:
Yann Herault, Véronique Brault, Marie-Christine Birling, Spiros D. Garbis, Tania Sorg, Eugene Yu, Antigoni Manousopoulou, Valérie Lalanne, Guillaume Pavlovic, Javier Flores-Gutiérrez, Loic Lindner, Giovanni Iacono, Thu Lan Nguyen, Hamid Meziane, Mohammed Selloum
Publikováno v:
PLoS Genetics
PLoS Genetics, Public Library of Science, 2021, 17, ⟨10.1371/journal.pgen.1009777⟩
PLoS Genetics, Vol 17, Iss 9, p e1009777 (2021)
Plos Genetics, 17, 9, pp. 1-34
PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩
Plos Genetics, 17, 1-34
bioRxiv
PLoS Genetics, Public Library of Science, 2021, 17, ⟨10.1371/journal.pgen.1009777⟩
PLoS Genetics, Vol 17, Iss 9, p e1009777 (2021)
Plos Genetics, 17, 9, pp. 1-34
PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩
Plos Genetics, 17, 1-34
bioRxiv
Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function mutations in the DYRK1A gene, located on human chromosome 21
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96524bfeac6a23e89b22edee131011f2
https://hal.archives-ouvertes.fr/hal-03373419/document
https://hal.archives-ouvertes.fr/hal-03373419/document
Autor:
Claudio De Felice, Enrico Tongiorgi, Silvia Leoncini, Cinzia Signorini, Javier Flores Gutiérrez, Giulia Natali, Joussef Hayek
Publikováno v:
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-20 (2020)
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-20 (2020)
Background Rett syndrome (RTT), an X-linked neurodevelopmental rare disease mainly caused by MECP2-gene mutations, is a prototypic intellectual disability disorder. Reversibility of RTT-like phenotypes in an adult mouse model lacking the Mecp2-gene h
Publikováno v:
The European journal of neuroscience. 44(7)
Although neuroprotection to contain the initial damage of spinal cord injury (SCI) is difficult, multicentre studies show that early neurosurgery under general anaesthesia confers positive benefits. An interesting hypothesis is that the general anaes