RESEARCH PUBLICATIONS
2023
Fazal S, Danzi MC, van Kuilenburg ABP, Reich S, Traschütz A, Bender B, Leen R, Toro C, Usdin K, Hayward B, Adams DR, van Karnebeek CDM, Ferreira CR, D'Sousa P, Network UD, Tekin M, Züchner S, Synofzik M. Hum Mol Genet. 2023 Jan 1;32(1):46-54. doi: 10.1093/hmg/ddac173. PMID: 35913761
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, […]Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. PMID: 36516086
2022
Park J, Tucci A, Cipriani V, [...], Horvath R, […] van de Warrenburg B, Lerche H, Maček B, Synofzik M, Ossowski S, Timmann D, Wolf ME, Smedley D, Riess O, Schöls L, Houlden H, Haack TB, Hengel H. Genet Med. 2022 Oct;24(10):2079-2090. doi: 10.1016/j.gim.2022.07.006. Epub 2022 Aug 20. PMID: 35986737
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease
Isabell Cordts MD, […] Matthis Synofzik MD, Dagmar Timmann MD, Johannes A. Mayr PhD, Tobias B. Haack MD, Felix Distelmaier MD, Marcus Deschauer MD, Mov Disord. 2022 Oct;37(10):2147-2153. doi: 10.1002/mds.29167. Epub 2022 Sep 1. PMID: 36047608
RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia
Danique Beijer, Maike F. Dohrn, Jonathan De Winter, Sarah Fazal, Andrea Cortese, Tanya Stojkovic, Gorka Fernández-Eulate, Gauthier Remiche, Mattia Gentile, Rudy Van Coster, Claudia Dufke, Matthis Synofzik, Peter De Jonghe, Stephan Züchner, Jonathan Baets, Eur J Neurol. 2022 Jul;29(7):2156-2161. doi: 10.1111/ene.15310. Epub 2022 Mar 23. PMID: 35253317
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M […], Durr A, Klebe S, […], Santorelli FM, Timmerman V, Haack TB, Züchner S; PREPARE Consortium, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J., Mov Disord. 2022 Feb 12. doi: 10.1002/mds.28959. Online ahead of print., PMID: 35150594
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia.
Thierfelder A, Seemann J, John N, Harmuth F, Giese M, Schüle R, Schöls L, Timmann D, Synofzik M, Ilg W., Mov Disord. 2022 Jan 24. doi: 10.1002/mds.28930. Online ahead of print., PMID: 35067979
Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes.
Rebelo AP, Bender B, Haack TB, Zuchner S; PREPARE consortium; Basak AN, Synofzik M.Brain. 2022 Oct 21;145(10):e95-e98. doi: 10.1093/brain/awac240. PMID: 35792670
2021
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, […], Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J., Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. PMID: 33970200
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. PMID: 33972714
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, […], Horvath R, […], Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium, Synofzik M., Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021.
Natural History of Polymerase Gamma-Related Ataxia.
Bender F, Timmann D, van de Warrenburg BP, Adarmes-Gómez AD, Bender B, Thieme A, Synofzik M, Schöls L. Mov Disord. 2021 Nov;36(11):2642-2652. doi: 10.1002/mds.28713. Epub 2021 Jul 20. PMID: 34288125
