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Neuropathy Target Esterase Activity Defines Phenotypes among PNPLA6 Disorders.

James Liu,Yi He,Cara Lwin,Marina Han,Bin Guan,Amelia Naik,Chelsea Bender,Nia Moore,Laryssa A. Huryn,Yuri Sergeev,Haohua Qian,Yong Zeng,Lijin Dong,Pinghu Liu,Jingqi Lei, Carl J. Haugen,Lev Prasov, Ruifang Shi,Helene Dollfus, Petros Aristodemou,Yannik Laich,Andrea H. Nemeth,John Taylor,Susan Downes,Maciej R. Krawczynski,Isabelle Meunier,Melissa Strassberg,Jessica Tenney, Josephine Gao,Matthew A. Shear,Anthony T. Moore,Jacque L. Duncan,Beatriz Menendez,Sarah Hull,Andrea L. Vincent,Carly E. Siskind,Elias Traboulsi,Craig Blackstone,Robert A. Sisk,Virginia Miraldi Utz,Andrew R. Webster,Michel Michaelides,Gavin Arno,Matthis Synofzik,Robert B. Hufnagel

Brain（2024）

Cited 0|Views28
Key words
spastic paraplegia type 39,Gordon-Holmes syndrome,Boucher-Neuh & auml,user syndrome,Laurence-Moon syndrome,Oliver-McFarlane syndrome,neurodegeneration
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