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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: schoser b. J Neurol. 2011 Nov;258(11):1987-97. doi: 10.1007/s00415-011-6055-4. Epub 2011 May 5. J Neurol. 2011. PMID: 21544567
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C, Schoser BG, von Düring M, Betz RC, Goebel HH, Zahn S, Ehrbrecht A, Aasly J, Schroers A, Popovic N, Lochmüller H, Schröder JM, Brüning T, Malin JP, Fricke B, Meinck HM, Torbergsen T, Engels H, Voss B, Vorgerd M. Kubisch C, et al. Among authors: schoser bg. Ann Neurol. 2003 Apr;53(4):512-20. doi: 10.1002/ana.10501. Ann Neurol. 2003. PMID: 12666119
Muscle pathology in 57 patients with myotonic dystrophy type 2.
Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, Pongratz DE, Toyka KV, Lochmüller H, Ricker K. Schoser BG, et al. Muscle Nerve. 2004 Feb;29(2):275-81. doi: 10.1002/mus.10545. Muscle Nerve. 2004. PMID: 14755494
Sudden cardiac death in myotonic dystrophy type 2.
Schoser BG, Ricker K, Schneider-Gold C, Hengstenberg C, Dürre J, Bültmann B, Kress W, Day JW, Ranum LP. Schoser BG, et al. Neurology. 2004 Dec 28;63(12):2402-4. doi: 10.1212/01.wnl.0000147335.10783.e4. Neurology. 2004. PMID: 15623712 Review.
357 results