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Year | Number of Results |
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2014 | 1 |
2021 | 2 |
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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.
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD; PREPARE Consortium; Synofzik M.
Traschütz A, et al.
Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12.
Ann Neurol. 2023.
PMID: 37243847
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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.
Rebelo AP, et al.
Brain. 2022 Oct 21;145(10):e95-e98. doi: 10.1093/brain/awac240.
Brain. 2022.
PMID: 35792670
Free PMC article.
No abstract available.
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The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, 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.
Traschütz A, et al.
Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021.
Front Neurol. 2021.
PMID: 34248822
Free PMC article.
Review.
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PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway.
De Winter J, Beijer D, De Ridder W, Synofzik M, Zuchner SL; PREPARE consortium; Van Damme P, Spileers W, Baets J.
De Winter J, et al.
Brain. 2021 Mar 3;144(2):e17. doi: 10.1093/brain/awaa389.
Brain. 2021.
PMID: 33230519
No abstract available.
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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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Preparedness for admission of patients with suspected Ebola virus disease in European hospitals: a survey, August-September 2014.
de Jong MD, Reusken C, Horby P, Koopmans M, Bonten M, Chiche J, Giaquinto C, Welte T, Leus F, Schotsman J, Goossens H; PREPARE consortium and affiliated clinical networks.
de Jong MD, et al.
Euro Surveill. 2014 Dec 4;19(48):20980. doi: 10.2807/1560-7917.es2014.19.48.20980.
Euro Surveill. 2014.
PMID: 25496571
Free PMC article.
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