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Page 1
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: minnerop m. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
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. Among authors: minnerop m. Front Neurol. 2021 Jun 25;12:677551. doi: 10.3389/fneur.2021.677551. eCollection 2021. Front Neurol. 2021. PMID: 34248822 Free PMC article. Review.
Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M. Schmitz-Hübsch T, et al. Among authors: minnerop m. Ann Clin Transl Neurol. 2021 Apr;8(4):774-789. doi: 10.1002/acn3.51315. Epub 2021 Mar 19. Ann Clin Transl Neurol. 2021. PMID: 33739604 Free PMC article.
Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG. Ihl T, et al. Among authors: minnerop m. Cerebellum. 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. Cerebellum. 2020. PMID: 32338350 Free PMC article.
Neurochemical Differences in Spinocerebellar Ataxia Type 14 and 1.
Grosch AS, Rinnenthal JL, Rönnefarth M, Lux S, Scheel M, Endres M, Brandt AU, Paul F, Schmitz-Hübsch T, Minnerop M, Doss S. Grosch AS, et al. Among authors: minnerop m. Cerebellum. 2021 Apr;20(2):169-178. doi: 10.1007/s12311-020-01201-y. Epub 2020 Oct 15. Cerebellum. 2021. PMID: 33063293 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. Among authors: minnerop m. Ann Neurol. 2023 Sep;94(3):470-485. doi: 10.1002/ana.26712. Epub 2023 Jun 12. Ann Neurol. 2023. PMID: 37243847
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia.
Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A. Minnerop M, et al. Brain. 2018 Jan 1;141(1):e2. doi: 10.1093/brain/awx291. Brain. 2018. PMID: 29236946 Free PMC article. No abstract available.
The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients.
Thieme A, Faber J, Sulzer P, Reetz K, Dogan I, Barkhoff M, Krahe J, Jacobi H, Aktories JE, Minnerop M, Elben S, van der Veen R, Müller J, Batsikadze G, Konczak J, Synofzik M, Roeske S, Timmann D. Thieme A, et al. Among authors: minnerop m. J Neurol. 2022 Aug;269(8):4363-4374. doi: 10.1007/s00415-022-11071-5. Epub 2022 Apr 1. J Neurol. 2022. PMID: 35364683 Free PMC article.
77 results