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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. Among authors: winkelmann j. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.
[Restless leg syndrome].
Winkelmann J, Collado-Seidel V, Trenkwalder C. Winkelmann J, et al. Med Monatsschr Pharm. 1999 Mar;22(3):67-71. Med Monatsschr Pharm. 1999. PMID: 10097580 Review. German. No abstract available.
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. Badhwar A, et al. Among authors: winkelmann j. Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13. Brain. 2004. PMID: 15364701
406 results