Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy
新的突变扩大了DYNC1H1相关脊髓性肌萎缩症的临床谱
期刊:Neurology
影响因子:8.5
doi:10.1212/WNL.0000000000001269
Scoto, Mariacristina; Rossor, Alexander M; Harms, Matthew B; Cirak, Sebahattin; Calissano, Mattia; Robb, Stephanie; Manzur, Adnan Y; Martínez Arroyo, Amaia; Rodriguez Sanz, Aida; Mansour, Sahar; Fallon, Penny; Hadjikoumi, Irene; Klein, Andrea; Yang, Michele; De Visser, Marianne; Overweg-Plandsoen, W C G Truus; Baas, Frank; Taylor, J Paul; Benatar, Michael; Connolly, Anne M; Al-Lozi, Muhammad T; Nixon, John; de Goede, Christian G E L; Foley, A Reghan; Mcwilliam, Catherine; Pitt, Matthew; Sewry, Caroline; Phadke, Rahul; Hafezparast, Majid; Chong, W K Kling; Mercuri, Eugenio; Baloh, Robert H; Reilly, Mary M; Muntoni, Francesco