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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. Hum Mol Genet. 2018 Feb 15;27(4):706-715. doi: 10.1093/hmg/ddx436. Hum Mol Genet. 2018. PMID: 29315381
Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.
Marroquin N, Stranz S, Müller K, Wieland T, Ruf WP, Brockmann SJ, Danzer KM, Borck G, Hübers A, Weydt P, Meitinger T, Strom TM, Rosenbohm A, Ludolph AC, Weishaupt JH. Marroquin N, et al. Among authors: brockmann sj. Brain. 2016 Feb;139(Pt 2):e8. doi: 10.1093/brain/awv218. Epub 2015 Sep 11. Brain. 2016. PMID: 26362909 Free PMC article. No abstract available.
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. Among authors: brockmann sj. 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.
Heterozygous Tbk1 loss has opposing effects in early and late stages of ALS in mice.
Brenner D, Sieverding K, Bruno C, Lüningschrör P, Buck E, Mungwa S, Fischer L, Brockmann SJ, Ulmer J, Bliederhäuser C, Philibert CE, Satoh T, Akira S, Boillée S, Mayer B, Sendtner M, Ludolph AC, Danzer KM, Lobsiger CS, Freischmidt A, Weishaupt JH. Brenner D, et al. Among authors: brockmann sj. J Exp Med. 2019 Feb 4;216(2):267-278. doi: 10.1084/jem.20180729. Epub 2019 Jan 11. J Exp Med. 2019. PMID: 30635357 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: brockmann sj. Brain. 2021 May 7;144(4):1214-1229. doi: 10.1093/brain/awab018. Brain. 2021. PMID: 33871026 Free PMC article.
Protein Binding Partners of Dysregulated miRNAs in Parkinson's Disease Serum.
Ruf WP, Freischmidt A, Grozdanov V, Roth V, Brockmann SJ, Mollenhauer B, Martin D, Haslinger B, Fundel-Clemens K, Otto M, Arnim CV, Holzmann K, Ludolph AC, Weishaupt JH, Danzer KM. Ruf WP, et al. Among authors: brockmann sj. Cells. 2021 Apr 2;10(4):791. doi: 10.3390/cells10040791. Cells. 2021. PMID: 33918274 Free PMC article.
Mitochondrial genome study in blood of maternally inherited ALS cases.
Brockmann SJ, Buck E, Casoli T, Meirelles JL, Ruf WP, Fabbietti P, Holzmann K, Weishaupt JH, Ludolph AC, Conti F, Danzer KM. Brockmann SJ, et al. Hum Genomics. 2023 Jul 28;17(1):70. doi: 10.1186/s40246-023-00516-1. Hum Genomics. 2023. PMID: 37507754 Free PMC article.