Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
双等位基因HPDL变异会导致神经退行性疾病，其症状范围从新生儿脑病到青少年发病的痉挛性截瘫。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.06.015
Husain, Ralf A; Grimmel, Mona; Wagner, Matias; Hennings, J Christopher; Marx, Christian; Feichtinger, René G; Saadi, Abdelkrim; Rostásy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Döbler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Ghasemi Firouzabadi, Saghar; Huebner, Antje K; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J; Laugwitz, Lucia; Nägele, Thomas; Wang, Zhao-Qi; Strom, Tim M; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Hübner, Christian A; Deschauer, Marcus; Mayr, Johannes A; Bonnen, Penelope E; Krägeloh-Mann, Ingeborg; Wortmann, Saskia B; Haack, Tobias B
