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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: bornemann a. 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.
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: bornemann a. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease.
Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Müller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Krüger R. Strauss KM, et al. Among authors: bornemann a. Hum Mol Genet. 2005 Aug 1;14(15):2099-111. doi: 10.1093/hmg/ddi215. Epub 2005 Jun 16. Hum Mol Genet. 2005. PMID: 15961413
Transgenic overexpression of the alpha-synuclein interacting protein synphilin-1 leads to behavioral and neuropathological alterations in mice.
Nuber S, Franck T, Wolburg H, Schumann U, Casadei N, Fischer K, Calaminus C, Pichler BJ, Chanarat S, Teismann P, Schulz JB, Luft AR, Tomiuk J, Wilbertz J, Bornemann A, Krüger R, Riess O. Nuber S, et al. Among authors: bornemann a. Neurogenetics. 2010 Feb;11(1):107-20. doi: 10.1007/s10048-009-0212-2. Neurogenetics. 2010. PMID: 19760259
Neurodegeneration and motor dysfunction in a conditional model of Parkinson's disease.
Nuber S, Petrasch-Parwez E, Winner B, Winkler J, von Hörsten S, Schmidt T, Boy J, Kuhn M, Nguyen HP, Teismann P, Schulz JB, Neumann M, Pichler BJ, Reischl G, Holzmann C, Schmitt I, Bornemann A, Kuhn W, Zimmermann F, Servadio A, Riess O. Nuber S, et al. Among authors: bornemann a. J Neurosci. 2008 Mar 5;28(10):2471-84. doi: 10.1523/JNEUROSCI.3040-07.2008. J Neurosci. 2008. PMID: 18322092 Free PMC article.
Congenital myopathies.
Bornemann A, Goebel HH. Bornemann A, et al. Brain Pathol. 2001 Apr;11(2):206-17. doi: 10.1111/j.1750-3639.2001.tb00393.x. Brain Pathol. 2001. PMID: 11303796 Free PMC article. Review.
166 results