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Page 1
Updated Structure of CNBP Repeat Expansions in Patients With Myotonic Dystrophy Type 2 and Its Implication for Standard Diagnostics.
Wendlandt M, Erdmann H, Rost S, Lucas MC, Becker K, Kleinle S, Timmer M, Bier A, Wunderlich G, Wenninger S, Walter MC, Neuhann T, Schoser B, Holinski-Feder E, Abicht A. Wendlandt M, et al. Among authors: kleinle s. Neurol Genet. 2024 Dec 18;11(1):e200220. doi: 10.1212/NXG.0000000000200220. eCollection 2025 Feb. Neurol Genet. 2024. PMID: 39703464 Free PMC article.
Quality assurance within the context of genome diagnostics (a german perspective).
Florian K, Benet-Pagès A, Berner D, Teubert A, Eck S, Arnold N, Bauer P, Begemann M, Sturm M, Kleinle S, B Haack T, Eggermann T. Florian K, et al. Among authors: kleinle s. Med Genet. 2023 Jun 13;35(2):91-104. doi: 10.1515/medgen-2023-2028. eCollection 2023 Jun. Med Genet. 2023. PMID: 38840862 Free PMC article.
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Kleinle S, Scholz V, Benet-Pagés A, Wohlfrom T, Gehling S, Scharf F, Rost S, Prott EC, Grinzinger S, Hotter A, Haug V, Niemeier S, Wiethoff-Ubrig L, Hagenacker T, Goldhahn K, von Moers A, Walter MC, Reilich P, Eggermann K, Kraft F, Kurth I, Erdmann H, Holinski-Feder E, Neuhann T, Abicht A. Kleinle S, et al. J Neuromuscul Dis. 2023;10(5):835-846. doi: 10.3233/JND-221668. J Neuromuscul Dis. 2023. PMID: 37424474 Free PMC article.
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Among authors: kleinle s. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727
Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
Schoeberl F, Abicht A, Kuepper C, Voelk S, Sonnenfeld S, Tonon M, Schaub A, Scholz V, Kleinle S, Erdmann H, Wolf DA, Reilich P. Schoeberl F, et al. Among authors: kleinle s. J Neurol. 2022 May;269(5):2774-2777. doi: 10.1007/s00415-021-10835-9. Epub 2021 Nov 25. J Neurol. 2022. PMID: 34821988 Free PMC article. No abstract available.
Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study.
Cöktü S, Spix C, Kaiser M, Beygo J, Kleinle S, Bachmann N, Kohlschmidt N, Prawitt D, Beckmann A, Klaes R, Nevinny-Stickel-Hinzpeter C, Döhnert S, Kraus C, Kadgien G, Vater I, Biskup S, Kutsche M, Kohlhase J, Eggermann T, Zenker M, Kratz CP. Cöktü S, et al. Among authors: kleinle s. Br J Cancer. 2020 Aug;123(4):619-623. doi: 10.1038/s41416-020-0911-x. Epub 2020 May 26. Br J Cancer. 2020. PMID: 32451468 Free PMC article.
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.
Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group. Stendel C, et al. Among authors: kleinle s. Neurol Genet. 2020 Jan 13;6(1):e393. doi: 10.1212/NXG.0000000000000393. eCollection 2020 Feb. Neurol Genet. 2020. PMID: 32042921 Free PMC article.
37 results