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127 results

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Page 1
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
Horvath R, Holinski-Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bässmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez-Koref M, Chinnery PF. Horvath R, et al. Among authors: rautenstrauss b. Mov Disord. 2012 May;27(6):789-93. doi: 10.1002/mds.24980. Epub 2012 Apr 16. Mov Disord. 2012. PMID: 22508347
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF. Sitarz KS, et al. Among authors: rautenstrauss b. Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3. doi: 10.1093/brain/aws049. Epub 2012 Apr 4. Brain. 2012. PMID: 22492563 Free PMC article. No abstract available.
Phenotypic variability in giant axonal neuropathy.
Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A, Grid D, Hamadouche T, Rautenstrauss B, Vallat JM. Tazir M, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23. Neuromuscul Disord. 2009. PMID: 19231187
Genetic and phenotypic variability of optic neuropathies.
Neuhann T, Rautenstrauss B. Neuhann T, et al. Among authors: rautenstrauss b. Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. Expert Rev Neurother. 2013. PMID: 23545052 Review.
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).
Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Among authors: rautenstrauss b. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580
Transcriptional regulator PRDM12 is essential for human pain perception.
Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: rautenstrauss b. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.
127 results