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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M, Toegel S, Schabhüttl M, Weinmann D, Chiari C, Bennett DLH, Beetz C, Klein D, Andersen PM, Böhme I, Fink-Puches R, Gonzalez M, Harms MB, Motley W, Reilly MM, Renner W, Rudnik-Schöneborn S, Schlotter-Weigel B, Themistocleous AC, Weishaupt JH, Ludolph AC, Wieland T, Tao F, Abreu L, Windhager R, Zitzelsberger M, Strom TM, Walther T, Scherer SS, Züchner S, Martini R, Senderek J. Auer-Grumbach M, et al. Among authors: weishaupt jh. Am J Hum Genet. 2016 Sep 1;99(3):607-623. doi: 10.1016/j.ajhg.2016.07.008. Am J Hum Genet. 2016. PMID: 27588448 Free PMC article.
Amyotrophic lateral sclerosis.
Ludolph AC, Brettschneider J, Weishaupt JH. Ludolph AC, et al. Among authors: weishaupt jh. Curr Opin Neurol. 2012 Oct;25(5):530-5. doi: 10.1097/WCO.0b013e328356d328. Curr Opin Neurol. 2012. PMID: 22918486 Free article. Review.
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: weishaupt jh. 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. Among authors: weishaupt jh. 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. Among authors: weishaupt jh. 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
FXN GAA repeat expansions in amyotrophic lateral sclerosis.
Rizik N, Freischmidt A, Ludolph AC, Weishaupt JH. Rizik N, et al. Among authors: weishaupt jh. 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
206 results