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Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
Wiesenfarth M, Günther K, Müller K, Witzel S, Weiland U, Mayer K, Herrmann C, Brenner D, Schuster J, Freischmidt A, Lulé D, Meyer T, Regensburger M, Grehl T, Emmer A, Petri S, Großkreutz J, Rödiger A, Steinbach R, Klopstock T, Reilich P, Schöberl F, Wolf J, Hagenacker T, Weyen U, Zeller D, Ludolph AC, Dorst J. Wiesenfarth M, et al. Among authors: freischmidt a. Brain Commun. 2023 Mar 21;5(2):fcad087. doi: 10.1093/braincomms/fcad087. eCollection 2023. Brain Commun. 2023. PMID: 37006326 Free PMC article.
FXN GAA repeat expansions in amyotrophic lateral sclerosis.
Rizik N, Freischmidt A, Ludolph AC, Weishaupt JH. Rizik N, et al. Among authors: freischmidt a. J Clin Neurosci. 2014 Aug;21(8):1319-22. doi: 10.1016/j.jocn.2013.10.029. Epub 2014 Jan 27. J Clin Neurosci. 2014. PMID: 24613765
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.
Freischmidt A, Wieland T, Richter B, Ruf W, Schaeffer V, Müller K, Marroquin N, Nordin F, Hübers A, Weydt P, Pinto S, Press R, Millecamps S, Molko N, Bernard E, Desnuelle C, Soriani MH, Dorst J, Graf E, Nordström U, Feiler MS, Putz S, Boeckers TM, Meyer T, Winkler AS, Winkelman J, de Carvalho M, Thal DR, Otto M, Brännström T, Volk AE, Kursula P, Danzer KM, Lichtner P, Dikic I, Meitinger T, Ludolph AC, Strom TM, Andersen PM, Weishaupt JH. Freischmidt A, et al. Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24. Nat Neurosci. 2015. PMID: 25803835
Serum microRNAs in sporadic amyotrophic lateral sclerosis.
Freischmidt A, Müller K, Zondler L, Weydt P, Mayer B, von Arnim CA, Hübers A, Dorst J, Otto M, Holzmann K, Ludolph AC, Danzer KM, Weishaupt JH. Freischmidt A, et al. Neurobiol Aging. 2015 Sep;36(9):2660.e15-20. doi: 10.1016/j.neurobiolaging.2015.06.003. Epub 2015 Jun 9. Neurobiol Aging. 2015. PMID: 26142125
Impaired activation of ALS monocytes by exosomes.
Zondler L, Feiler MS, Freischmidt A, Ruf WP, Ludolph AC, Danzer KM, Weishaupt JH. Zondler L, et al. Among authors: freischmidt a. Immunol Cell Biol. 2017 Feb;95(2):207-214. doi: 10.1038/icb.2016.89. Epub 2016 Sep 12. Immunol Cell Biol. 2017. PMID: 27616750
CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.
Brockmann SJ, Freischmidt A, Oeckl P, Müller K, Ponna SK, Helferich AM, Paone C, Reinders J, Kojer K, Orth M, Jokela M, Auranen M, Udd B, Hermann A, Danzer KM, Lichtner P, Walther P, Ludolph AC, Andersen PM, Otto M, Kursula P, Just S, Weishaupt JH. Brockmann SJ, et al. Among authors: freischmidt a. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
53 results