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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.
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.
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
Respiratory chain deficiency in nonmitochondrial disease.
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Pyle A, et al. Among authors: kleinle s. Neurol Genet. 2015 Apr 27;1(1):e6. doi: 10.1212/NXG.0000000000000006. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066545 Free PMC article.
Genetic heterogeneity of motor neuropathies.
Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmüller H, Chinnery PF, Horvath R. Bansagi B, et al. Among authors: kleinle s. Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1. Neurology. 2017. PMID: 28251916 Free PMC article.
35 results