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Page 1
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group. Traschütz A, et al. Among authors: jacobi h. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Spinocerebellar ataxia types 1, 2, 3 and 6: the clinical spectrum of ataxia and morphometric brainstem and cerebellar findings.
Jacobi H, Hauser TK, Giunti P, Globas C, Bauer P, Schmitz-Hübsch T, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdzienicka E, Kang JS, Ratzka S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, Tezenas du Montcel S, Borkert J, Schulz JB, Klockgether T. Jacobi H, et al. Cerebellum. 2012 Mar;11(1):155-66. doi: 10.1007/s12311-011-0292-z. Cerebellum. 2012. PMID: 21701895
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study.
Jacobi H, Bauer P, Giunti P, Labrum R, Sweeney MG, Charles P, Dürr A, Marelli C, Globas C, Linnemann C, Schöls L, Rakowicz M, Rola R, Zdzienicka E, Schmitz-Hübsch T, Fancellu R, Mariotti C, Tomasello C, Baliko L, Melegh B, Filla A, Rinaldi C, van de Warrenburg BP, Verstappen CC, Szymanski S, Berciano J, Infante J, Timmann D, Boesch S, Hering S, Depondt C, Pandolfo M, Kang JS, Ratzka S, Schulz J, Tezenas du Montcel S, Klockgether T. Jacobi H, et al. Neurology. 2011 Sep 13;77(11):1035-41. doi: 10.1212/WNL.0b013e31822e7ca0. Epub 2011 Aug 10. Neurology. 2011. PMID: 21832228 Free PMC article.
Inventory of Non-Ataxia Signs (INAS): validation of a new clinical assessment instrument.
Jacobi H, Rakowicz M, Rola R, Fancellu R, Mariotti C, Charles P, Dürr A, Küper M, Timmann D, Linnemann C, Schöls L, Kaut O, Schaub C, Filla A, Baliko L, Melegh B, Kang JS, Giunti P, van de Warrenburg BP, Fimmers R, Klockgether T. Jacobi H, et al. Cerebellum. 2013 Jun;12(3):418-28. doi: 10.1007/s12311-012-0421-3. Cerebellum. 2013. PMID: 23090211
[The genetics of spinocerebellar ataxias].
Jacobi H, Minnerop M, Klockgether T. Jacobi H, et al. Nervenarzt. 2013 Feb;84(2):137-42. doi: 10.1007/s00115-012-3637-z. Nervenarzt. 2013. PMID: 23338152 Review. German.
Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.
Reetz K, Costa AS, Mirzazade S, Lehmann A, Juzek A, Rakowicz M, Boguslawska R, Schöls L, Linnemann C, Mariotti C, Grisoli M, Dürr A, van de Warrenburg BP, Timmann D, Pandolfo M, Bauer P, Jacobi H, Hauser TK, Klockgether T, Schulz JB; axia Study Group Investigators. Reetz K, et al. Among authors: jacobi h. Brain. 2013 Mar;136(Pt 3):905-17. doi: 10.1093/brain/aws369. Epub 2013 Feb 18. Brain. 2013. PMID: 23423669
Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data.
Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, Filla A, Antenora A, Schöls L, Schicks J, Infante J, Kang JS, Timmann D, Di Fabio R, Masciullo M, Baliko L, Melegh B, Boesch S, Bürk K, Peltz A, Schulz JB, Dufaure-Garé I, Klockgether T. Jacobi H, et al. Lancet Neurol. 2013 Jul;12(7):650-8. doi: 10.1016/S1474-4422(13)70104-2. Epub 2013 May 22. Lancet Neurol. 2013. PMID: 23707147
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: jacobi h. 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.
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
Boesch S, Nachbauer W, Mariotti C, Sacca F, Filla A, Klockgether T, Klopstock T, Schöls L, Jacobi H, Büchner B, vom Hagen JM, Nanetti L, Manicom K. Boesch S, et al. Among authors: jacobi h. Mov Disord. 2014 Jun;29(7):935-9. doi: 10.1002/mds.25836. Epub 2014 Feb 11. Mov Disord. 2014. PMID: 24515352 Clinical Trial.
309 results