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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter (Elsevier Masson s.r.l., 2022)Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with ... -
The GABA(A) receptor gamma y2 subunit (R43Q) mutation in febrile seizures
Hancili, Suna; Önal, Zehra Esra; Ata, Pınar; Yüksel Karatoprak, Elif; Gürbüz, Tamay; Bostancı, Muharrem; Paçal, Yakup; Nuhoğlu, Çağatay; Ceran, Ömer (Elsevier, 2014)BACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the ...