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Page 1
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Mov Disord. 2022 Jun;37(6):1175-1186. doi: 10.1002/mds.28959. Epub 2022 Feb 12.
Mov Disord. 2022.
PMID: 35150594
Free PMC article.
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F.
Klopstock T, et al.
Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16.
Mov Disord. 2021.
PMID: 33200489
Free PMC article.
Clinical Trial.
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A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
Werning M, Dobretzberger V, Brenner M, Müllner EW, Mlynek G, Djinovic-Carugo K, Baron DM, Fragner L, Bischoff AT, Büchner B, Klopstock T, Weckwerth W, Salzer U.
Werning M, et al. Among authors: bischoff at.
Biomolecules. 2022 Feb 18;12(2):325. doi: 10.3390/biom12020325.
Biomolecules. 2022.
PMID: 35204826
Free PMC article.
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