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pro vyhledávání: '"Magdalena Radoš"'
Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia
Autor:
Frederik Arnskötter, Patricia Benites Goncalves da Silva, Mackenna E. Schouw, Chiara Lukasch, Luca Bianchini, Laura Sieber, Jesus Garcia-Lopez, Shiekh Tanveer Ahmad, Yiran Li, Hong Lin, Piyush Joshi, Lisa Spänig, Magdalena Radoš, Mykola Roiuk, Mari Sepp, Marc Zuckermann, Paul A. Northcott, Annarita Patrizi, Lena M. Kutscher
Publikováno v:
Neurobiology of Disease, Vol 199, Iss , Pp 106600- (2024)
Familial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects i
Externí odkaz:
https://doaj.org/article/27595f3c5f8c4217868b4b0677549c70
Autor:
Schloo, Cedar, Kutscher, Lena M
Publikováno v:
Neuro-Oncology; Jul2023, Vol. 25 Issue 7, p1225-1235, 11p