Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy
LMNB1 基因座的结构变异:解密常染色体显性遗传性成人发病脱髓鞘白营养不良症的病理机制。
IF 8.1
1区 医学
Q1 CLINICAL NEUROLOGY
Pub Date : 2024-07-30
DOI: 10.1002/ana.27038
Paola Dimartino PhD, Mariia Zadorozhna PhD, Verónica Yumiceba MSc, Anna Basile MSc, Ilaria Cani MD, Uirá Souto Melo PhD, Jana Henck MSc, Marjolein Breur BSc, Caterina Tonon MD PhD, Raffaele Lodi MD, Alfredo Brusco PhD, Tommaso Pippucci PhD, Foteini-Dionysia Koufi MSc, Elisa Boschetti PhD, Giulia Ramazzotti PhD, Lucia Manzoli MD, Stefano Ratti MD, PhD, Filippo Pinto E Vairo MD, PhD, Martin B. Delatycki MD, PhD, Giovanna Vaula MD, Pietro Cortelli MD, PhD, Marianna Bugiani MD, PhD, Malte Spielmann MD, Elisa Giorgio PhD