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Page 1
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: lohmann e. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095. Brain. 2017. PMID: 28459997 Free PMC article.
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.
Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zühlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nürnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C. Doss S, et al. Among authors: lohmann k, lohmann e. J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8. J Neurol. 2014. PMID: 24202787
Clinical variability in ataxia-telangiectasia.
Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T. Lohmann E, et al. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637
Role of LRRK2 and SNCA in autosomal dominant Parkinson's disease in Turkey.
Kessler C, Atasu B, Hanagasi H, Simón-Sánchez J, Hauser AK, Pak M, Bilgic B, Erginel-Unaltuna N, Gurvit H, Gasser T, Lohmann E. Kessler C, et al. Among authors: lohmann e. Parkinsonism Relat Disord. 2018 Mar;48:34-39. doi: 10.1016/j.parkreldis.2017.12.007. Epub 2017 Dec 9. Parkinsonism Relat Disord. 2018. PMID: 29248340
HPCA confirmed as a genetic cause of DYT2-like dystonia phenotype.
Atasu B, Hanagasi H, Bilgic B, Pak M, Erginel-Unaltuna N, Hauser AK, Guven G, Simón-Sánchez J, Heutink P, Gasser T, Lohmann E. Atasu B, et al. Among authors: lohmann e. Mov Disord. 2018 Aug;33(8):1354-1358. doi: 10.1002/mds.27442. Epub 2018 Aug 25. Mov Disord. 2018. PMID: 30145809
Single Molecule Molecular Inversion Probes for High Throughput Germline Screenings in Dystonia.
Pogoda M, Hilke FJ, Lohmann E, Sturm M, Lenz F, Matthes J, Muyas F, Ossowski S, Hoischen A, Faust U, Sepahi I, Casadei N, Poths S, Riess O, Schroeder C, Grundmann K. Pogoda M, et al. Among authors: lohmann e. Front Neurol. 2019 Dec 18;10:1332. doi: 10.3389/fneur.2019.01332. eCollection 2019. Front Neurol. 2019. PMID: 31920950 Free PMC article.
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network. Roux T, et al. Among authors: lohmann e. Genet Med. 2020 Nov;22(11):1851-1862. doi: 10.1038/s41436-020-0899-x. Epub 2020 Jul 27. Genet Med. 2020. PMID: 32713943 Free article.
Pallidal Deep Brain Stimulation Improves HPCA-Linked (DYT 2) Dystonia.
Samanci B, Şahin E, Samanci Y, Bilgiç B, Atasu B, Lohmann E, Peker S, Hanağası HA. Samanci B, et al. Among authors: lohmann e. Mov Disord Clin Pract. 2024 Feb;11(2):184-187. doi: 10.1002/mdc3.13947. Epub 2023 Dec 20. Mov Disord Clin Pract. 2024. PMID: 38386491 Free PMC article. No abstract available.
136 results