Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Karolina Aragon-Gawińska"'
Autor:
Irina T. Zaharieva, Mariacristina Scoto, Karolina Aragon‐Gawinska, Deborah Ridout, Bruno Doreste, Laurent Servais, Francesco Muntoni, Haiyan Zhou
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1011-1026 (2022)
Abstract Objective Spinal muscular atrophy (SMA) is a common genetic cause of infant mortality. Nusinersen treatment ameliorates the clinical outcome of SMA, however, some patients respond well, while others have limited response. We investigated mic
Externí odkaz:
https://doaj.org/article/25ab80b6bfc14c54bc1d6bd5ae1ab5ca
Autor:
Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by a biallelic mutation in the SMN1 gene, resulting in progressive muscle weakness and atrophy. Nusinersen is the first disease-modifying drug for all SMA typ
Externí odkaz:
https://doaj.org/article/caba915b35344630ab47436ccc08a777