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Page 1
Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM.
Schröder S, Wieland B, Ohlenbusch A, Yigit G, Altmüller J, Boltshauser E, Dörk T, Brockmann K. Schröder S, et al. Among authors: ohlenbusch a. Am J Med Genet A. 2020 Dec;182(12):2971-2975. doi: 10.1002/ajmg.a.61870. Epub 2020 Sep 11. Am J Med Genet A. 2020. PMID: 32918381
A novel remitting leukodystrophy associated with a variant in FBP2.
Gizak A, Diegmann S, Dreha-Kulaczewski S, Wiśniewski J, Duda P, Ohlenbusch A, Huppke B, Henneke M, Höhne W, Altmüller J, Thiele H, Nürnberg P, Rakus D, Gärtner J, Huppke P. Gizak A, et al. Among authors: ohlenbusch a. Brain Commun. 2021 Mar 11;3(2):fcab036. doi: 10.1093/braincomms/fcab036. eCollection 2021. Brain Commun. 2021. PMID: 33977262 Free PMC article.
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H, Thiele H, Ohlenbusch A, Maschke U, Altmüller J, Frommolt P, Zirn B, Ebinger F, Siemes H, Nürnberg P, Brockmann K, Gärtner J. Rosewich H, et al. Among authors: ohlenbusch a. Lancet Neurol. 2012 Sep;11(9):764-73. doi: 10.1016/S1474-4422(12)70182-5. Epub 2012 Jul 30. Lancet Neurol. 2012. PMID: 22850527
Acute onset of adult Alexander disease.
Schmidt H, Kretzschmar B, Lingor P, Pauli S, Schramm P, Otto M, Ohlenbusch A, Brockmann K. Schmidt H, et al. Among authors: ohlenbusch a. J Neurol Sci. 2013 Aug 15;331(1-2):152-4. doi: 10.1016/j.jns.2013.05.006. Epub 2013 May 23. J Neurol Sci. 2013. PMID: 23706596
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J. Henneke M, et al. Among authors: ohlenbusch a. Nat Genet. 2009 Jul;41(7):773-5. doi: 10.1038/ng.398. Epub 2009 Jun 14. Nat Genet. 2009. PMID: 19525954
56 results