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Page 1
Genetic pain loss disorders.
Lischka A, Lassuthova P, Çakar A, Record CJ, Van Lent J, Baets J, Dohrn MF, Senderek J, Lampert A, Bennett DL, Wood JN, Timmerman V, Hornemann T, Auer-Grumbach M, Parman Y, Hübner CA, Elbracht M, Eggermann K, Geoffrey Woods C, Cox JJ, Reilly MM, Kurth I. Lischka A, et al. Among authors: eggermann k. Nat Rev Dis Primers. 2022 Jun 16;8(1):41. doi: 10.1038/s41572-022-00365-7. Nat Rev Dis Primers. 2022. PMID: 35710757 Review.
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M. Schwanitz G, et al. Among authors: eggermann k, eggermann t. Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357605
Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.
Rudnik-Schöneborn S, Tölle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Müller-Felber W, Schara U, von Au K, Wieczorek D, Bußmann C, Zerres K. Rudnik-Schöneborn S, et al. Among authors: eggermann k. Clin Genet. 2016 Jan;89(1):34-43. doi: 10.1111/cge.12594. Epub 2015 Apr 29. Clin Genet. 2016. PMID: 25850958
Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Mair D, et al. Among authors: eggermann k. Brain Pathol. 2020 Sep;30(5):877-896. doi: 10.1111/bpa.12864. Epub 2020 Jun 15. Brain Pathol. 2020. PMID: 32419263 Free PMC article.
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J, Lassuthova P, Kabzińska D, Abreu L, Baets J, Beetz C, Braathen GJ, Brenner D, Dalton J, Dankwa L, Deconinck T, De Jonghe P, Dräger B, Eggermann K, Ellis M, Fischer C, Stojkovic T, Herrmann DN, Horvath R, Høyer H, Iglseder S, Kennerson M, Kinslechner K, Kohler JN, Kurth I, Laing NG, Lamont PJ, Wolfgang N L, Ludolph A, Marques W Jr, Nicholson G, Ong R, Petri S, Ravenscroft G, Rebelo A, Ricci G, Rudnik-Schöneborn S, Schirmacher A, Schlotter-Weigel B, Schoels L, Schüle R, Synofzik M, Francou B, Strom TM, Wagner J, Walk D, Wanschitz J, Weinmann D, Weishaupt J, Wiessner M, Windhager R, Young P, Züchner S, Toegel S, Seeman P, Kochański A, Auer-Grumbach M. Senderek J, et al. Among authors: eggermann k. Neurology. 2020 Dec 15;95(24):e3163-e3179. doi: 10.1212/WNL.0000000000011132. Epub 2020 Nov 3. Neurology. 2020. PMID: 33144514 Free PMC article.
66 results