Article
Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.
EBioMedicine - 1 Sept 2024
Iruzubieta Pablo, Alves César Augusto Pinheiro Ferreira, Al Shamsi Aisha M, ElGhazali Gehad, Zaki Maha S, Pinelli Lorenzo, Lopergolo Diego, Cho Bernard P H, Jolly Amy A, Al Futaisi Amna, Al-Amrani Fatema, Galli Jessica, Fazzi Elisa, Vulin Katarina, Barajas-Olmos Francisco, Hengel Holger, Aljamal Bayan Mohammed, Nasr Vahideh, Assarzadegan Farhad, Ragno Michele, Trojano Luigi, Ojeda Naomi Meave, Çakar Arman, Bianchi Silvia, Pescini Francesca, Poggesi Anna, Al Tenalji Amal, Aziz Majid, Mohammad Rahema, Chedrawi Aziza, De Stefano Nicola, Zifarelli Giovanni, Schöls Ludger, Haack Tobias B, Rebelo Adriana, Zuchner Stephan, Koc Filiz, Griffiths Lyn R, Orozco Lorena, Helmes Karla García, Babaei Meisam, Bauer Peter, Chan Jeong Won, Karimiani Ehsan Ghayoor, Schmidts Miriam, Gleeson Joseph G, Chung Wendy K, Alkuraya Fowzan Sami, Shalbafan Bita, Markus Hugh S, Houlden Henry, Maroofian Reza
Abstract excerpt
BACKGROUND: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense variants in NOTCH3 are well-studied in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients with biallelic variants in...
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