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414 results

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Page 1
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene.
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Reilich P, et al. Among authors: reimann j. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567
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
Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies.
Strach K, Sommer T, Grohé C, Meyer C, Fischer D, Walter MC, Vorgerd M, Reilich P, Bär H, Reimann J, Reuner U, Germing A, Goebel HH, Lochmüller H, Wintersperger B, Schröder R. Strach K, et al. Among authors: reimann j. Neuromuscul Disord. 2008 Jun;18(6):475-82. doi: 10.1016/j.nmd.2008.03.012. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504128
Distinct muscle imaging patterns in myofibrillar myopathies.
Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, Rolfs A, Meyer W, Pou A, Pradas J, Heyer CM, Grossmann A, Huebner A, Kress W, Reimann J, Schröder R, Eymard B, Fardeau M, Udd B, Goldfarb L, Vorgerd M, Olivé M. Fischer D, et al. Among authors: reimann j. Neurology. 2008 Sep 2;71(10):758-65. doi: 10.1212/01.wnl.0000324927.28817.9b. Neurology. 2008. PMID: 18765652 Free PMC article.
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.
Clemen CS, Tangavelou K, Strucksberg KH, Just S, Gaertner L, Regus-Leidig H, Stumpf M, Reimann J, Coras R, Morgan RO, Fernandez MP, Hofmann A, Müller S, Schoser B, Hanisch FG, Rottbauer W, Blümcke I, von Hörsten S, Eichinger L, Schröder R. Clemen CS, et al. Among authors: reimann j. Brain. 2010 Oct;133(10):2920-41. doi: 10.1093/brain/awq222. Epub 2010 Sep 9. Brain. 2010. PMID: 20833645
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
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.
414 results