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Page 1
Germline C1GALT1C1 mutation causes a multisystem chaperonopathy.
Erger F, Aryal RP, Reusch B, Matsumoto Y, Meyer R, Zeng J, Knopp C, Noel M, Muerner L, Wenzel A, Kohl S, Tschernoster N, Rappl G, Rouvet I, Schröder-Braunstein J, Seibert FS, Thiele H, Häusler MG, Weber LT, Büttner-Herold M, Elbracht M, Cummings SF, Altmüller J, Habbig S, Cummings RD, Beck BB. Erger F, et al. Among authors: hausler mg. Proc Natl Acad Sci U S A. 2023 May 30;120(22):e2211087120. doi: 10.1073/pnas.2211087120. Epub 2023 May 22. Proc Natl Acad Sci U S A. 2023. PMID: 37216524 Free PMC article.
CSF Findings in Acute NMDAR and LGI1 Antibody-Associated Autoimmune Encephalitis.
Dürr M, Nissen G, Sühs KW, Schwenkenbecher P, Geis C, Ringelstein M, Hartung HP, Friese MA, Kaufmann M, Malter MP, Madlener M, Thaler FS, Kümpfel T, Senel M, Häusler MG, Schneider H, Bergh FT, Kellinghaus C, Zettl UK, Wandinger KP, Melzer N, Gross CC, Lange P, Dreyhaupt J, Tumani H, Leypoldt F, Lewerenz J; German Network for Research on Autoimmune Encephalitis. Dürr M, et al. Among authors: hausler mg. Neurol Neuroimmunol Neuroinflamm. 2021 Oct 25;8(6):e1086. doi: 10.1212/NXI.0000000000001086. Print 2021 Nov. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34697224 Free PMC article.
Diabetes mellitus in Friedreich Ataxia: A case series of 19 patients from the German-Austrian diabetes mellitus registry.
Pappa A, Häusler MG, Veigel A, Tzamouranis K, Pfeifer MW, Schmidt A, Bökamp M, Haberland H, Wagner S, Brückel J, de Sousa G, Hackl L, Bollow E, Holl RW. Pappa A, et al. Among authors: hausler mg. Diabetes Res Clin Pract. 2018 Jul;141:229-236. doi: 10.1016/j.diabres.2018.05.008. Epub 2018 May 26. Diabetes Res Clin Pract. 2018. PMID: 29763710
Genetic predisposition in anti-LGI1 and anti-NMDA receptor encephalitis.
Mueller SH, Färber A, Prüss H, Melzer N, Golombeck KS, Kümpfel T, Thaler F, Elisak M, Lewerenz J, Kaufmann M, Sühs KW, Ringelstein M, Kellinghaus C, Bien CG, Kraft A, Zettl UK, Ehrlich S, Handreka R, Rostásy K, Then Bergh F, Faiss JH, Lieb W, Franke A, Kuhlenbäumer G, Wandinger KP, Leypoldt F; German Network for Research on Autoimmune Encephalitis (GENERATE). Mueller SH, et al. Ann Neurol. 2018 Apr;83(4):863-869. doi: 10.1002/ana.25216. Ann Neurol. 2018. PMID: 29572931
Life with too much polyprenol: polyprenol reductase deficiency.
Gründahl JE, Guan Z, Rust S, Reunert J, Müller B, Du Chesne I, Zerres K, Rudnik-Schöneborn S, Ortiz-Brüchle N, Häusler MG, Siedlecka J, Swiezewska E, Raetz CR, Marquardt T. Gründahl JE, et al. Among authors: hausler mg. Mol Genet Metab. 2012 Apr;105(4):642-51. doi: 10.1016/j.ymgme.2011.12.017. Epub 2011 Dec 29. Mol Genet Metab. 2012. PMID: 22304929 Free PMC article.
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