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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 Jun;56(6):1080-1089. doi: 10.1038/s41588-024-01719-5. Epub 2024 Apr 29. Nat Genet. 2024. PMID: 38684900
Identification and characterisation of pathogenic and non-pathogenic FGF14 repeat expansions.
Mohren L, Erdlenbruch F, Leitão E, Kilpert F, Hönes GS, Kaya S, Schröder C, Thieme A, Sturm M, Park J, Schlüter A, Ruiz M, Morales de la Prida M, Casasnovas C, Becker K, Roggenbuck U, Pechlivanis S, Kaiser FJ, Synofzik M, Wirth T, Anheim M, Haack TB, Lockhart PJ, Jöckel KH, Pujol A, Klebe S, Timmann D, Depienne C. Mohren L, et al. Among authors: erdlenbruch f. Nat Commun. 2024 Sep 3;15(1):7665. doi: 10.1038/s41467-024-52148-1. Nat Commun. 2024. PMID: 39227614 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. Among authors: erdlenbruch f. Mov Disord. 2024 Jun;39(6):965-974. doi: 10.1002/mds.29788. Epub 2024 Mar 20. 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. 2024 Jun;23(3):887-895. doi: 10.1007/s12311-023-01546-0. Epub 2023 Mar 31. Cerebellum. 2024. PMID: 37002505 Free PMC article.
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.
Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
Elter TL, Sturm D, Santana MM, Schaprian T, Raposo M, Melo ARV, Lima M, Koyak B, Oender D, Grobe-Einsler M, Lopes S, Silva P, de Almeida LP, Giunti P, Garcia-Moreno H, Nethisinhe S, de Vries J, van de Warrenburg BP, van Gaalen J, Synofzik M, Schöls L, Reetz K, Erdlenbruch F, Jacobi H, Infante J, Riess O, Klockgether T; ESMI study group; Faber J, Hübener-Schmid J. Elter TL, et al. Among authors: erdlenbruch f. J Neurol. 2024 Dec 12;272(1):54. doi: 10.1007/s00415-024-12829-9. J Neurol. 2024. PMID: 39666145 Free PMC article.
Guideline-recommended basic parameter adherence in neurocritical care stroke patients: Observational multicenter individual participant data analysis.
Mrochen A, Alhaj Omar O, Pelz JO, Michalski D, Neugebauer H, Lehrieder D, Knier B, Ringmaier C, Stetefeld H, Schönenberger S, Chen M, Schneider H, Alonso A, Lesch H, Totzek A, Erdlenbruch F, Hiller B, Diel NJ, Worm A, Claudi C, Gerner ST, Huttner HB, Schramm P. Mrochen A, et al. Among authors: erdlenbruch f. Eur Stroke J. 2024 Oct 13:23969873241289360. doi: 10.1177/23969873241289360. Online ahead of print. Eur Stroke J. 2024. PMID: 39397354 Free PMC article.
Subtypes of cognitive impairment in cerebellar disease identified by cross-diagnostic cluster-analysis: results from a German multicenter study.
Liu Q, Rubarth K, Faber J, Sulzer P, Dogan I, Barkhoff M, Minnerop M, Berlijn AM, Elben S, Jacobi H, Aktories JE, Huvermann DM, Erdlenbruch F, Van der Veen R, Müller J, Nio E, Frank B, Köhrmann M, Wondzinski E, Siebler M, Reetz K, Konczak J, Konietschke F, Klockgether T, Synofzik M, Röske S, Timmann D, Thieme A. Liu Q, et al. Among authors: erdlenbruch f. J Neurol. 2024 Dec 21;272(1):83. doi: 10.1007/s00415-024-12831-1. J Neurol. 2024. PMID: 39708269 Free PMC article.