论文信息 - Mutations in PLAA cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins - 字舞流文

Mutations in PLAA cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins

Mark T. Handley | R. Ribchester | C. Woods | F. Alkuraya | A. García-Muñoz | D. Soares | E. Faqeih | A. Kriegsheim | M. Nahorski | N. Gammoh | E. Maher | J. Vogt | G. Mali | R. Mort | I. Aligianis | Y. Kulathu | P. Mill | M. Keighren | Emma M. Perkins | M. Jackson | D. Walsh | Emma A. Hall | R. Shaheen | A. Quigley | P. Budd | L. Murray | Ross A. Jones | K. Dissanayake | T. Davey | Lisa | Manon Rivagorda | Yosua Kristaryanto | Tooba Quidwai | McKie | Matthieu | Vermeren | J. Ian | Jackson | E. Perkins | D. C. Soares | Kosala N. Dissanayake