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2024 | 2 |
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7.
J Neurol. 2023.
PMID: 37418012
Free PMC article.
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
Traschütz A, Fleszar Z, Hengel H, Klockgether T, Erdlenbruch F, Falkenburger BH, Klopstock T, Öztop-Çakmak Ö, Pedroso JL, Santorelli FM, Schöls L; RFC1 Study Group, PREPARE Consortium; Synofzik M.
Traschütz A, et al.
Mov Disord. 2024 Mar 20. doi: 10.1002/mds.29788. Online ahead of print.
Mov Disord. 2024.
PMID: 38509638
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Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (PROSPAX).
Beichert L, Ilg W, Kessler C, Traschütz A, Reich S, Santorelli FM, Başak AN, Gagnon C; PROSPAX Consortium; Schüle R, Synofzik M.
Beichert L, et al.
Mov Disord. 2024 Jun 7. doi: 10.1002/mds.29876. Online ahead of print.
Mov Disord. 2024.
PMID: 38847438
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