Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Selene Diamant"'
Autor:
Carmela Romano, Emanuele Morena, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Marco Salvetti, Silvia Romano, Giovanni Ristori
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation i
Externí odkaz:
https://doaj.org/article/79fe45a22b9c44e2b5012d7b04778f29
Autor:
Emanuele Morena, Carmela Romano, Martina Marconi, Selene Diamant, Maria Chiara Buscarinu, Gianmarco Bellucci, Silvia Romano, Daniela Scarabino, Marco Salvetti, Giovanni Ristori
Publikováno v:
International Journal of Molecular Sciences. 24:6051
Huntington’s disease (HD) is characterized by clinical motor impairment (e.g., involuntary movements, poor coordination, parkinsonism), cognitive deficits, and psychiatric symptoms. An inhered expansion of the CAG triplet in the huntingtin gene cau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c63a8600b4b0383b613ef3904e614c6
https://doi.org/10.3390/ijms24076051
https://doi.org/10.3390/ijms24076051