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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: freischmidt a. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
FXN GAA repeat expansions in amyotrophic lateral sclerosis.
Rizik N, Freischmidt A, Ludolph AC, Weishaupt JH. Rizik N, et al. Among authors: freischmidt a. 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
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. 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. 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
Age-dependent defects of alpha-synuclein oligomer uptake in microglia and monocytes.
Bliederhaeuser C, Grozdanov V, Speidel A, Zondler L, Ruf WP, Bayer H, Kiechle M, Feiler MS, Freischmidt A, Brenner D, Witting A, Hengerer B, Fändrich M, Ludolph AC, Weishaupt JH, Gillardon F, Danzer KM. Bliederhaeuser C, et al. Among authors: freischmidt a. Acta Neuropathol. 2016 Mar;131(3):379-91. doi: 10.1007/s00401-015-1504-2. Epub 2015 Nov 17. Acta Neuropathol. 2016. PMID: 26576561
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: freischmidt a. J Cell Biol. 2015 Nov 23;211(4):897-911. doi: 10.1083/jcb.201504057. J Cell Biol. 2015. PMID: 26598621 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. Among authors: freischmidt a. Mol Neurodegener. 2015 Dec 8;10:66. doi: 10.1186/s13024-015-0062-3. Mol Neurodegener. 2015. PMID: 26643113 Free PMC article.
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