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Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.
Andersen PM, Nordström U, Tsiakas K, Johannsen J, Volk AE, Bierhals T, Zetterström P, Marklund SL, Hempel M, Santer R. Andersen PM, et al. Among authors: volk ae. N Engl J Med. 2019 Aug 1;381(5):486-488. doi: 10.1056/NEJMc1905039. Epub 2019 Jul 17. N Engl J Med. 2019. PMID: 31314961 No abstract available.
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: volk ae. 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.
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: volk ae. Nat Neurosci. 2015 May;18(5):631-6. doi: 10.1038/nn.4000. Epub 2015 Mar 24. Nat Neurosci. 2015. PMID: 25803835
Neurofilaments in the diagnosis of motoneuron diseases: a prospective study on 455 patients.
Steinacker P, Feneberg E, Weishaupt J, Brettschneider J, Tumani H, Andersen PM, von Arnim CA, Böhm S, Kassubek J, Kubisch C, Lulé D, Müller HP, Muche R, Pinkhardt E, Oeckl P, Rosenbohm A, Anderl-Straub S, Volk AE, Weydt P, Ludolph AC, Otto M. Steinacker P, et al. Among authors: volk ae. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):12-20. doi: 10.1136/jnnp-2015-311387. Epub 2015 Aug 21. J Neurol Neurosurg Psychiatry. 2016. PMID: 26296871
NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH. Brenner D, et al. Among authors: volk ae. Brain. 2016 May;139(Pt 5):e28. doi: 10.1093/brain/aww033. Epub 2016 Mar 5. Brain. 2016. PMID: 26945885 No abstract available.
91 results