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414 results

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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: reimann j. 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.
Diagnostic challenge and therapeutic dilemma in necrotizing myopathy.
Claeys KG, Gorodinskaya O, Handt S, Reimann J, Kress W, Kornblum C, Kuhl C, Schulz JB, Weis J. Claeys KG, et al. Among authors: reimann j. Neurology. 2013 Sep 3;81(10):932-5. doi: 10.1212/WNL.0b013e3182a35285. Epub 2013 Aug 6. Neurology. 2013. PMID: 23921885 No abstract available.
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: reimann j. J Neurol. 2017 Jun;264(6):1193-1203. doi: 10.1007/s00415-017-8514-z. Epub 2017 May 17. J Neurol. 2017. PMID: 28516329
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A. Reimann J, et al. J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016. J Neuropathol Exp Neurol. 2017. PMID: 28371804
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. Mokbel N, et al. Among authors: reimann j. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31. Brain. 2013. PMID: 23378224 Free article.
Pathological consequences of VCP mutations on human striated muscle.
Hübbers CU, Clemen CS, Kesper K, Böddrich A, Hofmann A, Kämäräinen O, Tolksdorf K, Stumpf M, Reichelt J, Roth U, Krause S, Watts G, Kimonis V, Wattjes MP, Reimann J, Thal DR, Biermann K, Evert BO, Lochmüller H, Wanker EE, Schoser BG, Noegel AA, Schröder R. Hübbers CU, et al. Among authors: reimann j. Brain. 2007 Feb;130(Pt 2):381-93. doi: 10.1093/brain/awl238. Epub 2006 Sep 19. Brain. 2007. PMID: 16984901
Making sense of missense variants in TTN-related congenital myopathies.
Rees M, Nikoopour R, Fukuzawa A, Kho AL, Fernandez-Garcia MA, Wraige E, Bodi I, Deshpande C, Özdemir Ö, Daimagüler HS, Pfuhl M, Holt M, Brandmeier B, Grover S, Fluss J, Longman C, Farrugia ME, Matthews E, Hanna M, Muntoni F, Sarkozy A, Phadke R, Quinlivan R, Oates EC, Schröder R, Thiel C, Reimann J, Voermans N, Erasmus C, Kamsteeg EJ, Konersman C, Grosmann C, McKee S, Tirupathi S, Moore SA, Wilichowski E, Hobbiebrunken E, Dekomien G, Richard I, Van den Bergh P, Domínguez-González C, Cirak S, Ferreiro A, Jungbluth H, Gautel M. Rees M, et al. Among authors: reimann j. Acta Neuropathol. 2021 Mar;141(3):431-453. doi: 10.1007/s00401-020-02257-0. Epub 2021 Jan 15. Acta Neuropathol. 2021. PMID: 33449170 Free PMC article.
ZASPopathy with childhood-onset distal myopathy.
Strach K, Reimann J, Thomas D, Naehle CP, Kress W, Kornblum C. Strach K, et al. Among authors: reimann j. J Neurol. 2012 Jul;259(7):1494-6. doi: 10.1007/s00415-012-6543-1. Epub 2012 May 23. J Neurol. 2012. PMID: 22619057
414 results