Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Bronte Coorey"'
Autor:
Florencia D. Haase, Bronte Coorey, Lisa Riley, Laurence C. Cantrill, Patrick P. L. Tam, Wendy A. Gold
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, mostly caused by mutations in MECP2. The disorder mainly affects girls and it is associated with severe cognitive and physical disabilities. Modeling RTT in neural and glial cell culture
Externí odkaz:
https://doaj.org/article/06e4d5b016054a928b140c8c81135b09
Autor:
Bronte Coorey, Florencia Haase, Carolyn Ellaway, Angus Clarke, Leszek Lisowski, Wendy A. Gold
Publikováno v:
The CRISPR journal. 5(4)
Rett syndrome (RTT) is a rare neurogenetic disorder caused by pathogenic variants of the Methyl CpG binding protein 2 (MECP2) gene. The RTT is characterized by apparent normal early development followed by regression of communicative and fine motor s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dfddadc2124d82c9e67406f98e74817
https://pubmed.ncbi.nlm.nih.gov/35881862
https://pubmed.ncbi.nlm.nih.gov/35881862
Autor:
Bronte Coorey, Florencia Haase, Wendy A. Gold, Ingar Wong, Carolyn Ellaway, Alexandra Boyling, Rahul Krishnaraj, John Christodoulou, Edward Luca
Publikováno v:
Human Mutation. 40:2184-2196
The discovery that Rett syndrome is caused by mutations in the MECP2 gene has provided a major breakthrough in our understanding of the disorder. However, despite this, there is still limited understanding of the underlying pathophysiology of the dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cb4dbfee7b7f6e1e1e2da61abf0e0b8
https://doi.org/10.1002/humu.23887
https://doi.org/10.1002/humu.23887
Autor:
Rahul Krishnaraj, Florencia Haase, Bronte Coorey, Edward J Luca, Ingar Wong, Alexandra Boyling, Carolyn Ellaway, John Christodoulou, Wendy A. Gold
Publikováno v:
Human Mutation. 40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c028180b69eeb1ef07eca8ed4ce87ce
https://doi.org/10.1002/humu.23957
https://doi.org/10.1002/humu.23957