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Page 1
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: helferich am. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS.
Helferich AM, Brockmann SJ, Reinders J, Deshpande D, Holzmann K, Brenner D, Andersen PM, Petri S, Thal DR, Michaelis J, Otto M, Just S, Ludolph AC, Danzer KM, Freischmidt A, Weishaupt JH. Helferich AM, et al. Cell Mol Life Sci. 2018 Dec;75(23):4301-4319. doi: 10.1007/s00018-018-2873-1. Epub 2018 Jul 20. Cell Mol Life Sci. 2018. PMID: 30030593 Free PMC article.
A serum microRNA sequence reveals fragile X protein pathology in amyotrophic lateral sclerosis.
Freischmidt A, Goswami A, Limm K, Zimyanin VL, Demestre M, Glaß H, Holzmann K, Helferich AM, Brockmann SJ, Tripathi P, Yamoah A, Poser I, Oefner PJ, Böckers TM, Aronica E, Ludolph AC, Andersen PM, Hermann A, Weis J, Reinders J, Danzer KM, Weishaupt JH. Freischmidt A, et al. Among authors: helferich am. Brain. 2021 May 7;144(4):1214-1229. doi: 10.1093/brain/awab018. Brain. 2021. PMID: 33871026 Free PMC article.
α-synuclein interacts with SOD1 and promotes its oligomerization.
Helferich AM, Ruf WP, Grozdanov V, Freischmidt A, Feiler MS, Zondler L, Ludolph AC, McLean PJ, Weishaupt JH, Danzer KM. Helferich AM, et al. Mol Neurodegener. 2015 Dec 8;10:66. doi: 10.1186/s13024-015-0062-3. Mol Neurodegener. 2015. PMID: 26643113 Free PMC article.
TDP-43 is intercellularly transmitted across axon terminals.
Feiler MS, Strobel B, Freischmidt A, Helferich AM, Kappel J, Brewer BM, Li D, Thal DR, Walther P, Ludolph AC, Danzer KM, Weishaupt JH. Feiler MS, et al. Among authors: helferich am. J Cell Biol. 2015 Nov 23;211(4):897-911. doi: 10.1083/jcb.201504057. J Cell Biol. 2015. PMID: 26598621 Free PMC article.
Peripheral monocytes are functionally altered and invade the CNS in ALS patients.
Zondler L, Müller K, Khalaji S, Bliederhäuser C, Ruf WP, Grozdanov V, Thiemann M, Fundel-Clemes K, Freischmidt A, Holzmann K, Strobel B, Weydt P, Witting A, Thal DR, Helferich AM, Hengerer B, Gottschalk KE, Hill O, Kluge M, Ludolph AC, Danzer KM, Weishaupt JH. Zondler L, et al. Among authors: helferich am. Acta Neuropathol. 2016 Sep;132(3):391-411. doi: 10.1007/s00401-016-1548-y. Epub 2016 Feb 24. Acta Neuropathol. 2016. PMID: 26910103