A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers
POLR3B基因的一种新的从头变异与最大神经纤维的原发性轴突受累有关。
IF 3.8
3区 医学
Q1 Medicine
Pub Date : 2023-10-28
DOI: 10.1111/jns.12602
Alessandro Geroldi, Stefano Tozza, Chiara Fiorillo, Maria Nolano, Paola Fossa, Floriana Vitale, Regi Domi, Andrea Gaudio, Alessia Mammi, Serena Patrone, Andrea La Barbera, Paola Origone, Clarissa Ponti, Francesca Sanguineri, Federico Zara, Matteo Cataldi, Vincenzo Salpietro, Consuelo Barbara Venturi, Sara Massucco, Angelo Schenone, Fiore Manganelli, Paola Mandich, Emilia Bellone, Fabio Gotta