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Recessive Null-Allele Variants in MAG Associated with Spastic Ataxia, Nystagmus, Neuropathy, and Dystonia.

Michael Zech,Theresa Brunet,Matej Skorvanek,Astrid Blaschek,Katharina Vill,Britta Hanker,Irina Huning,Vladimir Han,Petra Dosekova,Zuzana Gdovinova,Bader Alhaddad,Riccardo Berutti,Tim M. Strom,Evzen Ruzicka,Erik-Jan Kamsteeg,Jasper J. van der Smagt,Matias Wagner,Robert Jech,Juliane Winkelmann

Parkinsonism & Related Disorders（2020）

Cited 6|Views87
Key words
MAG,Loss-of-function variants,Ataxia,Spastic paraplegia,Dystonia
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