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Page 1
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M, Weyer-Menkhoff I, Viergutz L, Kornblum C, Claeys KG, Schneider I, Plöckinger U, Young P, Boentert M, Vielhaber S, Mawrin C, Bergmann M, Weis J, Ziagaki A, Stenzel W, Deschauer M, Nolte D, Hahn A, Schoser B, Schänzer A. Kulessa M, et al. Among authors: bergmann m. Neuropathol Appl Neurobiol. 2020 Jun;46(4):359-374. doi: 10.1111/nan.12580. Epub 2019 Oct 24. Neuropathol Appl Neurobiol. 2020. PMID: 31545528
Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C. Schoser B, et al. Among authors: bergmann m. Neurology. 2009 Aug 18;73(7):543-51. doi: 10.1212/WNL.0b013e3181b2a4b3. Neurology. 2009. PMID: 19687455
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL, Sacconi S, Bach JE, Liebe C, Bürmann J, Kley RA, Ferbert A, Anderheiden R, Van den Bergh P, Martin JJ, De Jonghe P, Neuen-Jacob E, Müller O, Deschauer M, Bergmann M, Schröder JM, Vorgerd M, Schulz JB, Weis J, Kress W, Claeys KG. Semmler AL, et al. Among authors: bergmann m. Orphanet J Rare Dis. 2014 Aug 1;9:121. doi: 10.1186/s13023-014-0121-9. Orphanet J Rare Dis. 2014. PMID: 25208129 Free PMC article.
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation.
Tripathi P, Guo H, Dreser A, Yamoah A, Sechi A, Jesse CM, Katona I, Doukas P, Nikolin S, Ernst S, Aronica E, Glaß H, Hermann A, Steinbusch H, Feller AC, Bergmann M, Jaarsma D, Weis J, Goswami A. Tripathi P, et al. Among authors: bergmann m. Cell Death Dis. 2021 May 10;12(5):466. doi: 10.1038/s41419-021-03710-y. Cell Death Dis. 2021. PMID: 33972508 Free PMC article.
DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans.
Karsai G, Kraft F, Haag N, Korenke GC, Hänisch B, Othman A, Suriyanarayanan S, Steiner R, Knopp C, Mull M, Bergmann M, Schröder JM, Weis J, Elbracht M, Begemann M, Hornemann T, Kurth I. Karsai G, et al. Among authors: bergmann m. J Clin Invest. 2019 Mar 1;129(3):1229-1239. doi: 10.1172/JCI124159. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620338 Free PMC article.
A de novo gain-of-function mutation in SCN11A causes loss of pain perception.
Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stödberg T, Hennings JC, Bergmann M, Altmüller J, Thiele H, Wetzel A, Nürnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hübner CA, Kurth I. Leipold E, et al. Among authors: bergmann m. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. Nat Genet. 2013. PMID: 24036948
Quantification of alcohol intake in patients with steatotic liver disease and excessive alcohol intake.
Hansen ED, Torp N, Johansen S, Hansen JK, Bergmann ML, Hansen CD, Detlefsen S, Andersen P, Villesen I, Bech K, Thorhauge K, Jensen GH, Lindvig KP, Hansen T, Tsochatzis EA, Trebicka J, Thiele M, Krag A, Israelsen M; GALAXY and MicrobLiver consortia. Hansen ED, et al. Among authors: bergmann ml. JHEP Rep. 2024 Sep 2;7(1):101200. doi: 10.1016/j.jhepr.2024.101200. eCollection 2025 Jan. JHEP Rep. 2024. PMID: 39698234 Free PMC article.
1,424 results