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Clinical characterization of common pathogenic variants of SOD1-ALS in Germany.
Wiesenfarth M, Forouhideh-Wiesenfarth Y, Elmas Z, Parlak Ö, Weiland U, Herrmann C, Schuster J, Freischmidt A, Müller K, Siebert R, Günther K, Fröhlich E, Knehr A, Simak T, Bachhuber F, Regensburger M, Petri S, Klopstock T, Reilich P, Schöberl F, Schumann P, Körtvélyessy P, Meyer T, Ruf WP, Witzel S, Tumani H, Brenner D, Dorst J, Ludolph AC. Wiesenfarth M, et al. Among authors: regensburger m. J Neurol. 2024 Oct;271(10):6667-6679. doi: 10.1007/s00415-024-12564-1. Epub 2024 Aug 14. J Neurol. 2024. PMID: 39141064 Free PMC article.
The Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons.
Purohit P, Perez-Branguli F, Prots I, Borger E, Gunn-Moore F, Welzel O, Loy K, Wenzel EM, Grömer TW, Brachs S, Holzer M, Buslei R, Fritsch K, Regensburger M, Böhm KJ, Winner B, Mielenz D. Purohit P, et al. Among authors: regensburger m. PLoS One. 2014 Aug 18;9(8):e103976. doi: 10.1371/journal.pone.0103976. eCollection 2014. PLoS One. 2014. PMID: 25133820 Free PMC article.
Impact of Swiprosin-1/Efhd2 on Adult Hippocampal Neurogenesis.
Regensburger M, Prots I, Reimer D, Brachs S, Loskarn S, Lie DC, Mielenz D, Winner B. Regensburger M, et al. Stem Cell Reports. 2018 Feb 13;10(2):347-355. doi: 10.1016/j.stemcr.2017.12.010. Epub 2018 Jan 11. Stem Cell Reports. 2018. PMID: 29337116 Free PMC article.
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
Müller K, Brenner D, Weydt P, Meyer T, Grehl T, Petri S, Grosskreutz J, Schuster J, Volk AE, Borck G, Kubisch C, Klopstock T, Zeller D, Jablonka S, Sendtner M, Klebe S, Knehr A, Günther K, Weis J, Claeys KG, Schrank B, Sperfeld AD, Hübers A, Otto M, Dorst J, Meitinger T, Strom TM, Andersen PM, Ludolph AC, Weishaupt JH; German ALS network MND-NET. Müller K, et al. J Neurol Neurosurg Psychiatry. 2018 Aug;89(8):817-827. doi: 10.1136/jnnp-2017-317611. Epub 2018 Apr 12. J Neurol Neurosurg Psychiatry. 2018. PMID: 29650794
SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden.
Yilmaz R, Müller K, Brenner D, Volk AE, Borck G, Hermann A, Meitinger T, Strom TM, Danzer KM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS Network MND-NET. Yilmaz R, et al. Neurobiol Aging. 2020 Mar;87:139.e9-139.e15. doi: 10.1016/j.neurobiolaging.2019.10.018. Epub 2019 Nov 2. Neurobiol Aging. 2020. PMID: 31859009
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
Peseschkian T, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Büchner B, Weiland U, Schönfelder E, Heinrich F, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O. Peseschkian T, et al. Among authors: regensburger m. Brain Sci. 2021 Mar 14;11(3):372. doi: 10.3390/brainsci11030372. Brain Sci. 2021. PMID: 33799476 Free PMC article.
86 results