Browsing by Author "Efthymiou, Stephanie"
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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Şahin, Yavuz; Shamsi, Aisha Al; Chehadeh, Salima El; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; Moreira, Francisco Martins De Carvalho; Accogli, Andrea; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; Marco, Patrizia De; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi, Marie Therese; Warde; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry (Elsevier, 2022)Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this ...
