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Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.
Stenzel W, Preuße C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, Nolte K, Aronica E, Kana V, Rushing E, Schneider U, Claeys KG, Benveniste O, Weis J, Goebel HH. Stenzel W, et al. Among authors: claeys kg. Neurology. 2015 Mar 31;84(13):1346-54. doi: 10.1212/WNL.0000000000001422. Epub 2015 Mar 6. Neurology. 2015. PMID: 25746564 Free article.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: claeys kg. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry.
Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T. Altmann J, et al. Among authors: claeys kg. J Neurol. 2016 May;263(5):961-972. doi: 10.1007/s00415-016-8086-3. Epub 2016 Mar 19. J Neurol. 2016. PMID: 26995359
Towards a functional pathology of hereditary neuropathies.
Weis J, Claeys KG, Roos A, Azzedine H, Katona I, Schröder JM, Senderek J. Weis J, et al. Among authors: claeys kg. Acta Neuropathol. 2017 Apr;133(4):493-515. doi: 10.1007/s00401-016-1645-y. Epub 2016 Nov 28. Acta Neuropathol. 2017. PMID: 27896434 Review.
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P, Ferbert A, Petri S, Hartmann C, Bornemann A, Meisel A, Petersen JA, Tousseyn T, Thal DR, Reimann J, De Jonghe P, Martin JJ, Van den Bergh PY, Schulz JB, Weis J, Claeys KG. Schnitzler LJ, et al. Among authors: claeys kg. Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Orphanet J Rare Dis. 2017. PMID: 28490364 Free PMC article. Review.
Screening for lipoprotein receptor-related protein 4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis.
Cordts I, Bodart N, Hartmann K, Karagiorgou K, Tzartos JS, Mei L, Reimann J, Van Damme P, Rivner MH, Vigneron A, Weis J, Schulz JB, Tzartos SJ, Claeys KG. Cordts I, et al. Among authors: claeys kg. J Neurol. 2017 Jun;264(6):1193-1203. doi: 10.1007/s00415-017-8514-z. Epub 2017 May 17. J Neurol. 2017. PMID: 28516329
167 results