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A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
Figueroa KP, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, Sturm M, Casadei N, Admard J, Park J, Zühlke C, Hellenbroich Y, Pozojevic J, Balachandran S, Händler K, Zittel S, Timmann D, Erdlenbruch F, Herrmann L, Feindt T, Zenker M, Klopstock T, Dufke C, Scoles DR, Koeppen A, Spielmann M, Riess O, Ossowski S, Haack TB, Pulst SM. Figueroa KP, et al. Among authors: erdlenbruch f. Nat Genet. 2024 Apr 29. doi: 10.1038/s41588-024-01719-5. Online ahead of print. Nat Genet. 2024. PMID: 38684900
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. Among authors: erdlenbruch f. Mov Disord. 2024 Mar 20. doi: 10.1002/mds.29788. Online ahead of print. Mov Disord. 2024. PMID: 38509638
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
Uebachs M, Wegner P, Schaaf S, Kugai S, Jacobi H, Kuo SH, Ashizawa T, Fluck J; EUROSCA study group; ESMI study group; RISCA study group; CRC-SCA study group; SCA Registry study group; Klockgether T, Faber J. Uebachs M, et al. Cerebellum. 2023 Mar 31:10.1007/s12311-023-01546-0. doi: 10.1007/s12311-023-01546-0. Online ahead of print. Cerebellum. 2023. PMID: 37002505
Corneal confocal microscopy differentiates inflammatory from diabetic neuropathy.
Fleischer M, Lee I, Erdlenbruch F, Hinrichs L, Petropoulos IN, Malik RA, Hartung HP, Kieseier BC, Kleinschnitz C, Stettner M. Fleischer M, et al. Among authors: erdlenbruch f. J Neuroinflammation. 2021 Apr 8;18(1):89. doi: 10.1186/s12974-021-02130-1. J Neuroinflammation. 2021. PMID: 33832507 Free PMC article.