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119 results

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Page 1
Stiff person syndrome-associated autoantibodies to amphiphysin mediate reduced GABAergic inhibition.
Geis C, Weishaupt A, Hallermann S, Grünewald B, Wessig C, Wultsch T, Reif A, Byts N, Beck M, Jablonka S, Boettger MK, Üçeyler N, Fouquet W, Gerlach M, Meinck HM, Sirén AL, Sigrist SJ, Toyka KV, Heckmann M, Sommer C. Geis C, et al. Among authors: jablonka s. Brain. 2010 Nov;133(11):3166-80. doi: 10.1093/brain/awq253. Epub 2010 Sep 30. Brain. 2010. PMID: 20884644
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1).
Grohmann K, Rossoll W, Kobsar I, Holtmann B, Jablonka S, Wessig C, Stoltenburg-Didinger G, Fischer U, Hübner C, Martini R, Sendtner M. Grohmann K, et al. Among authors: jablonka s. Hum Mol Genet. 2004 Sep 15;13(18):2031-42. doi: 10.1093/hmg/ddh222. Epub 2004 Jul 21. Hum Mol Genet. 2004. PMID: 15269181
Large-scale pathways-based association study in amyotrophic lateral sclerosis.
Kasperaviciute D, Weale ME, Shianna KV, Banks GT, Simpson CL, Hansen VK, Turner MR, Shaw CE, Al-Chalabi A, Pall HS, Goodall EF, Morrison KE, Orrell RW, Beck M, Jablonka S, Sendtner M, Brockington A, Ince PG, Hartley J, Nixon H, Shaw PJ, Schiavo G, Wood NW, Goldstein DB, Fisher EM. Kasperaviciute D, et al. Among authors: jablonka s. Brain. 2007 Sep;130(Pt 9):2292-301. doi: 10.1093/brain/awm055. Epub 2007 Apr 17. Brain. 2007. PMID: 17439985 Free article.
Dysregulated IGFBP5 expression causes axon degeneration and motoneuron loss in diabetic neuropathy.
Simon CM, Rauskolb S, Gunnersen JM, Holtmann B, Drepper C, Dombert B, Braga M, Wiese S, Jablonka S, Pühringer D, Zielasek J, Hoeflich A, Silani V, Wolf E, Kneitz S, Sommer C, Toyka KV, Sendtner M. Simon CM, et al. Among authors: jablonka s. Acta Neuropathol. 2015 Sep;130(3):373-87. doi: 10.1007/s00401-015-1446-8. Epub 2015 May 30. Acta Neuropathol. 2015. PMID: 26025657 Free PMC article.
Plekhg5-regulated autophagy of synaptic vesicles reveals a pathogenic mechanism in motoneuron disease.
Lüningschrör P, Binotti B, Dombert B, Heimann P, Perez-Lara A, Slotta C, Thau-Habermann N, R von Collenberg C, Karl F, Damme M, Horowitz A, Maystadt I, Füchtbauer A, Füchtbauer EM, Jablonka S, Blum R, Üçeyler N, Petri S, Kaltschmidt B, Jahn R, Kaltschmidt C, Sendtner M. Lüningschrör P, et al. Among authors: jablonka s. Nat Commun. 2017 Oct 30;8(1):678. doi: 10.1038/s41467-017-00689-z. Nat Commun. 2017. PMID: 29084947 Free PMC article.
Hot-spot KIF5A mutations cause familial ALS.
Brenner D, Yilmaz R, Müller K, Grehl T, Petri S, Meyer T, Grosskreutz J, Weydt P, Ruf W, Neuwirth C, Weber M, Pinto S, Claeys KG, Schrank B, Jordan B, Knehr A, Günther K, Hübers A, Zeller D, Kubisch C, Jablonka S, Sendtner M, Klopstock T, de Carvalho M, Sperfeld A, Borck G, Volk AE, Dorst J, Weis J, Otto M, Schuster J, Del Tredici K, Braak H, Danzer KM, Freischmidt A, Meitinger T, Strom TM, Ludolph AC, Andersen PM, Weishaupt JH; German ALS network MND-NET. Brenner D, et al. Among authors: jablonka s. Brain. 2018 Mar 1;141(3):688-697. doi: 10.1093/brain/awx370. Brain. 2018. PMID: 29342275 Free PMC article.
119 results