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pro vyhledávání: '"Brad Margus"'
Autor:
Namrata Jayanth, Gurvan Mahé, Matthew Campbell, Mike Lipkin, Shushant Jain, Rhea van de Bospoort, Jennifer Thornton, Brad Margus, David F. Fischer
Publikováno v:
SLAS Discovery, Vol 30, Iss , Pp 100200- (2025)
Ataxia Telangiectasia (A-T) is a rare, autosomal recessive genetic disorder characterized by a variety of symptoms, including progressive neurodegeneration, telangiectasia, immunodeficiency, and an increased susceptibility to cancer. It is caused by
Externí odkaz:
https://doaj.org/article/c33ea9794dbc46d382eb85d70f7ac867
Autor:
Yana Studentsova, Thomas O. Crawford, Nora D. Volkow, Gene-Jack Wang, Dardo Tomasi, Brad Margus
Publikováno v:
Brain. 137:1753-1761
Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood with severe motor impairments and whereas homozygotes manifest the disorder, heterozygotes are asymptomatic. Structural brain imaging and post-mortem studies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b82e6ab0b2354c4bf121772e1b05ea3
https://doi.org/10.1093/brain/awu092
https://doi.org/10.1093/brain/awu092