Browsing Universitätsbibliographie by Author "Huridou, Chrisovalantou"

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A Novel SCA3 Knock-in Mouse Model Mimics the Human SCA3 Disease Phenotype Including Neuropathological, Behavioral, and Transcriptional Abnormalities Especially in Oligodendrocytes

Haas, Eva; Incebacak, Rana D.; Hentrich, Thomas; Huridou, Chrisovalantou; Schmidt, Thorsten; Casadei, Nicolas; Maringer, Yacine; Bahl, Carola; Zimmermann, Frank; Mills, James D.; Aronica, Eleonora; Riess, Olaf; Schulze-Hentrich, Julia M.; Huebener-Schmid, Jeannette (2022)
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

Buchert, Rebecca; Burkhalter, Martin D.; Huridou, Chrisovalantou; Sofan, Linda; Roser, Timo; Cremer, Kirsten; Alvi, Javeria Raza; Efthymiou, Stephanie; Froukh, Tawfiq; Gulieva, Sughra; Guliyeva, Ulviyya; Hamdallah, Moath; Holder-Espinasse, Muriel; Kaiyrzhanov, Rauan; Klingler, Doreen; Koko, Mahmoud; Matthies, Lars; Park, Joohyun; Sturm, Marc; Velic, Ana; Spranger, Stephanie; Sultan, Tipu; Engels, Hartmut; Lerche, Holger; Houlden, Henry; Pagnamenta, Alistair T.; Borggraefe, Ingo; Weber, Yvonne; Bonnen, Penelope E.; Maroofian, Reza; Riess, Olaf; Weber, Jonasz J.; Philipp, Melanie; Haack, Tobias B. (2025)
Calpains as novel players in the molecular pathogenesis of spinocerebellar ataxia type 17

Weber, Jonasz Jeremiasz; Anger, Stefanie Cari; Sena, Priscila Pereira; Eltemur, Rana Dilara Incebacak; Huridou, Chrisovalantou; Fath, Florian; Gross, Caspar; Casadei, Nicolas; Riess, Olaf; Huu Phuc Nguyen (2022)
The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy

Weber, Jonasz J.; Czisch, Leah; Sena, Priscila Pereira; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Eltemur, Rana D. Incebacak; Wuerth, Anna; Weishaeupl, Daniel; Doecker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; Franca Jr, Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schoels, Ludger; Riess, Olaf; Schmidt, Thorsten (2024)

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