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492 results

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Page 1
Experience in a short-term trial with 4-aminopyridine in cerebellar ataxia.
Giordano I, Bogdanow M, Jacobi H, Jahn K, Minnerop M, Schoels L, Synofzik M, Teufel J, Klockgether T. Giordano I, et al. Among authors: synofzik m. J Neurol. 2013 Aug;260(8):2175-6. doi: 10.1007/s00415-013-7029-5. Epub 2013 Jul 4. J Neurol. 2013. PMID: 23824358 No abstract available.
Consensus paper: management of degenerative cerebellar disorders.
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schöls L, Strupp M, Synofzik M, Teufel J, Timmann D. Ilg W, et al. Among authors: synofzik m. Cerebellum. 2014 Apr;13(2):248-68. doi: 10.1007/s12311-013-0531-6. Cerebellum. 2014. PMID: 24222635 Free PMC article.
Multisystemic SYNE1 ataxia: confirming the high frequency and extending the mutational and phenotypic spectrum.
Mademan I, Harmuth F, Giordano I, Timmann D, Magri S, Deconinck T, Claaßen J, Jokisch D, Genc G, Di Bella D, Romito S, Schüle R, Züchner S, Taroni F, Klockgether T, Schöls L, De Jonghe P, Bauer P, Consortium E, Baets J, Synofzik M. Mademan I, et al. Among authors: synofzik m. Brain. 2016 Aug;139(Pt 8):e46. doi: 10.1093/brain/aww115. Epub 2016 May 19. Brain. 2016. PMID: 27197992 Free PMC article. No abstract available.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R. Minnerop M, et al. Among authors: synofzik m. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Giordano I, et al. Among authors: synofzik m. Neurology. 2017 Sep 5;89(10):1043-1049. doi: 10.1212/WNL.0000000000004311. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794257 Clinical Trial.
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. Among authors: synofzik m. Brain. 2018 Jan 1;141(1):e2. doi: 10.1093/brain/awx291. Brain. 2018. PMID: 29236946 Free PMC article. No abstract available.
Structural characteristics of the central nervous system in Friedreich ataxia: an in vivo spinal cord and brain MRI study.
Dogan I, Romanzetti S, Didszun C, Mirzazade S, Timmann D, Saft C, Schöls L, Synofzik M, Giordano IA, Klockgether T, Schulz JB, Reetz K. Dogan I, et al. Among authors: synofzik m. J Neurol Neurosurg Psychiatry. 2019 May;90(5):615-617. doi: 10.1136/jnnp-2018-318422. Epub 2018 Jun 26. J Neurol Neurosurg Psychiatry. 2019. PMID: 29945881 No abstract available.
PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study.
Gonsior K, Kaucher GA, Pelz P, Schumann D, Gansel M, Kuhs S, Klockgether T, Forlani S, Durr A, Hauser S, Rattay TW, Synofzik M, Hengel H, Schöls L, Rieß OH, Hübener-Schmid J. Gonsior K, et al. Among authors: synofzik m. J Neurol. 2021 Apr;268(4):1304-1315. doi: 10.1007/s00415-020-10274-y. Epub 2020 Oct 26. J Neurol. 2021. PMID: 33106888 Free PMC article.
Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol.
Thieme A, Roeske S, Faber J, Sulzer P, Minnerop M, Elben S, Jacobi H, Reetz K, Dogan I, Barkhoff M, Konczak J, Wondzinski E, Siebler M, Mueller O, Sure U, Schmahmann JD, Klockgether T, Synofzik M, Timmann D. Thieme A, et al. Among authors: synofzik m. Neurol Res Pract. 2020 Sep 29;2:39. doi: 10.1186/s42466-020-00071-3. eCollection 2020. Neurol Res Pract. 2020. PMID: 33324939 Free PMC article. Clinical Trial.
492 results