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U-Fiber Leukoencephalopathy Due to a Novel Mutation in the TACO1 Gene.
Sferruzza G, Del Bondio A, Citterio A, Vezzulli P, Guerrieri S, Radaelli M, Martinelli Boneschi F, Filippi M, Maltecca F, Bassi MT, Scarlato M. Sferruzza G, et al. Among authors: del bondio a. Neurol Genet. 2021 Mar 9;7(2):e573. doi: 10.1212/NXG.0000000000000573. eCollection 2021 Apr. Neurol Genet. 2021. PMID: 33709035 Free PMC article. No abstract available.
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.
Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F. Tulli S, et al. Among authors: del bondio a. J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25. J Med Genet. 2019. PMID: 30910913 Free PMC article.