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Functional Validation of Novel Variants in B4GALNT1 Associated with Early-Onset Complex Hereditary Spastic Paraplegia with Impaired Ganglioside Synthesis

Julian Emanuel Alecu,Yuhsuke Ohmi,Robiul H. Bhuiyan,Kei-ichiro Inamori,Takahiro Nitta,Afshin Saffari,Hellen Jumo,Marvin Ziegler,Claudio Melo de Gusmao,Nutan Sharma,Shiho Ohno,Noriyoshi Manabe,Yoshiki Yamaguchi,Mariko Kambe,Keiko Furukawa,Mustafa Sahin,Jin-ichi Inokuchi, Koichi Furakawa,Darius Ebrahimi-Fakhari

American Journal of Medical Genetics Part A（2022）

引用 6|浏览35
关键词
gangliosides,hereditary spastic paraplegia,inborn error of metabolism,neurodegeneration,spastic paraplegia 26,spasticity
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