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Page 1
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort.
Tazelaar GHP, Dekker AM, van Vugt JJFA, van der Spek RA, Westeneng HJ, Kool LJBG, Kenna KP, van Rheenen W, Pulit SL, McLaughlin RL, Sproviero W, Iacoangeli A, Hübers A, Brenner D, Morrison KE, Shaw PJ, Shaw CE, Panadés MP, Mora Pardina JS, Glass JD, Hardiman O, Al-Chalabi A, van Damme P, Robberecht W, Landers JE, Ludolph AC, Weishaupt JH, van den Berg LH, Veldink JH, van Es MA; Project MinE ALS Sequencing Consortium. Tazelaar GHP, et al. Among authors: hubers a. Neurobiol Aging. 2019 Feb;74:234.e9-234.e15. doi: 10.1016/j.neurobiolaging.2018.09.012. Epub 2018 Sep 22. Neurobiol Aging. 2019. PMID: 30342764 Free PMC article.
A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.
Ingre C, Landers JE, Rizik N, Volk AE, Akimoto C, Birve A, Hübers A, Keagle PJ, Piotrowska K, Press R, Andersen PM, Ludolph AC, Weishaupt JH. Ingre C, et al. Among authors: hubers a. Neurobiol Aging. 2013 Jun;34(6):1708.e1-6. doi: 10.1016/j.neurobiolaging.2012.10.009. Epub 2012 Nov 8. Neurobiol Aging. 2013. PMID: 23141414 Free PMC article.
[Genetics of amyotrophic lateral sclerosis].
Hübers A, Weishaupt JH, Ludolph AC. Hübers A, et al. Nervenarzt. 2013 Oct;84(10):1213-9. doi: 10.1007/s00115-013-3898-1. Nervenarzt. 2013. PMID: 24072096 Review. German.
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.
Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE. Hübers A, et al. Neurobiol Aging. 2014 May;35(5):1214.e1-6. doi: 10.1016/j.neurobiolaging.2013.11.034. Epub 2013 Dec 4. Neurobiol Aging. 2014. PMID: 24378086
[Amyotrophic lateral sclerosis].
Hübers A, Weishaupt JH, Ludolph AC. Hübers A, et al. Med Monatsschr Pharm. 2014 Oct;37(10):356-64; quiz 365-6. Med Monatsschr Pharm. 2014. PMID: 25632606 Review. German.
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. Among authors: hubers a. 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. Among authors: hubers a. 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
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: hubers a. 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.
75 results