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Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
Raposo M, Hübener-Schmid J, Ferreira AF, Vieira Melo AR, Vasconcelos J, Pires P, Kay T, Garcia-Moreno H, Giunti P, Santana MM, Pereira de Almeida L, Infante J, van de Warrenburg BP, de Vries JJ, Faber J, Klockgether T, Casadei N, Admard J, Schöls L; European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study group; Riess O, Lima M. Raposo M, et al. Among authors: faber j. Brain. 2023 Oct 3;146(10):4132-4143. doi: 10.1093/brain/awad128. Brain. 2023. PMID: 37071051
Characterization of Cerebellar Atrophy and Resting State Functional Connectivity Patterns in Sporadic Adult-Onset Ataxia of Unknown Etiology (SAOA).
Jiang X, Faber J, Giordano I, Machts J, Kindler C, Dudesek A, Speck O, Kamm C, Düzel E, Jessen F, Spottke A, Vielhaber S, Boecker H, Klockgether T, Scheef L. Jiang X, et al. Among authors: faber j. Cerebellum. 2019 Oct;18(5):873-881. doi: 10.1007/s12311-019-01072-y. Cerebellum. 2019. PMID: 31422550 Clinical Trial.
Prominent White Matter Involvement in Multiple System Atrophy of Cerebellar Type.
Faber J, Giordano I, Jiang X, Kindler C, Spottke A, Acosta-Cabronero J, Nestor PJ, Machts J, Düzel E, Vielhaber S, Speck O, Dudesek A, Kamm C, Scheef L, Klockgether T. Faber J, et al. Mov Disord. 2020 May;35(5):816-824. doi: 10.1002/mds.27987. Epub 2020 Jan 29. Mov Disord. 2020. PMID: 31994808
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
Wilke C, Haas E, Reetz K, Faber J, Garcia-Moreno H, Santana MM, van de Warrenburg B, Hengel H, Lima M, Filla A, Durr A, Melegh B, Masciullo M, Infante J, Giunti P, Neumann M, de Vries J, Pereira de Almeida L, Rakowicz M, Jacobi H, Schüle R, Kaeser SA, Kuhle J, Klockgether T, Schöls L; SCA3 neurofilament study group; Barro C, Hübener-Schmid J, Synofzik M. Wilke C, et al. Among authors: faber j. EMBO Mol Med. 2020 Jul 7;12(7):e11803. doi: 10.15252/emmm.201911803. Epub 2020 Jun 8. EMBO Mol Med. 2020. PMID: 32510847 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: faber j. 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.
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: faber j. Neurology. 2021 Mar 2;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. Neurology. 2021. PMID: 33495376 Free PMC article.
Update cerebellum and cognition.
Jacobi H, Faber J, Timmann D, Klockgether T. Jacobi H, et al. Among authors: faber j. J Neurol. 2021 Oct;268(10):3921-3925. doi: 10.1007/s00415-021-10486-w. Epub 2021 Mar 3. J Neurol. 2021. PMID: 33656586 Free PMC article.
1,301 results