Zobrazeno 1 - 3
of 3
pro vyhledávání: '"genetics [Fragile X Syndrome]"'
Autor:
Georg Köhr, Dušica Briševac, Dan Du, Ralf Scholz, Mohammad Nael Elagabani, Hans-Christian Kornau
Publikováno v:
Journal of neurochemistry 157(3), 666-683 (2021). doi:10.1111/jnc.15230
Journal of Neurochemistry : official journal of the International Society for Neurochemistry
Journal of Neurochemistry : official journal of the International Society for Neurochemistry
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, results from silencing of the fragile X mental retardation gene 1 (FMR1). The analyses of FXS patients’ brain autopsies revealed an increased density of immature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b7c2faee993ea2120f6f513675e9a3e
https://pubmed.ncbi.nlm.nih.gov/33125726
https://pubmed.ncbi.nlm.nih.gov/33125726
Autor:
Stepniak, Beata, Kästner, Anne, Poggi, Giulia, Mitjans, Marina, Begemann, Martin, Hartmann, Annette, Van der Auwera, Sandra, Sananbenesi, Farahnaz, Krueger-Burg, Dilja, Matuszko, Gabriela, Brosi, Cornelia, Homuth, Georg, Völzke, Henry, Benseler, Fritz, Bagni, Claudia, Fischer, Utz, Dityatev, Alexander, Grabe, Hans-Jörgen, Rujescu, Dan, Fischer, Andre, Ehrenreich, Hannelore
Publikováno v:
EMBO molecular medicine
EMBO molecular medicine 7(12), 1565-1579 (2015). doi:10.15252/emmm.201505696
EMBO Molecular Medicine
EMBO molecular medicine 7(12), 1565-1579 (2015). doi:10.15252/emmm.201505696
EMBO Molecular Medicine
Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::71b324e438d72265352eec6e811e7c58
https://doi.org/10.15252/emmm.201505696
https://doi.org/10.15252/emmm.201505696
Autor:
Dölen, Gül.
Publikováno v:
View abstract/electronic edition; access limited to Brown University users.
Thesis (Ph.D.)--Brown University, 2008.
Advisor : Mark F. Bear. Includes bibliographical references.
Advisor : Mark F. Bear. Includes bibliographical references.