Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination
神经纤维蛋白基因的双等位基因突变会导致神经发育障碍和周围神经脱髓鞘。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awz248
Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S; Edvardson, Simon; Nolano, Maria; Devaux, Jérôme; Houlden, Henry
