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Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Plecko B, Paul K, Paschke E, Stoeckler-Ipsiroglu S, Struys E, Jakobs C, Hartmann H, Luecke T, di Capua M, Korenke C, Hikel C, Reutershahn E, Freilinger M, Baumeister F, Bosch F, Erwa W. Plecko B, et al. Among authors: freilinger m. Hum Mutat. 2007 Jan;28(1):19-26. doi: 10.1002/humu.20433. Hum Mutat. 2007. PMID: 17068770
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
Fischer C, Trajanoski S, Papić L, Windpassinger C, Bernert G, Freilinger M, Schabhüttl M, Arslan-Kirchner M, Javaher-Haghighi P, Plecko B, Senderek J, Rauscher C, Löscher WN, Pieber TR, Janecke AR, Auer-Grumbach M. Fischer C, et al. Among authors: freilinger m. J Neurol. 2012 Mar;259(3):515-23. doi: 10.1007/s00415-011-6213-8. Epub 2011 Sep 4. J Neurol. 2012. PMID: 21892769 Free PMC article.
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Their K, Prayer D, Bernert G, Bittner R. Rossmanith W, et al. Among authors: freilinger m. BMJ Case Rep. 2009;2009:bcr08.2008.0666. doi: 10.1136/bcr.08.2008.0666. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686692 Free PMC article.
Isolated cytochrome c oxidase deficiency as a cause of MELAS.
Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Thier K, Prayer D, Bernert G, Bittner RE. Rossmanith W, et al. Among authors: freilinger m. J Med Genet. 2008 Feb;45(2):117-21. doi: 10.1136/jmg.2007.052076. J Med Genet. 2008. PMID: 18245391
A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.
Bader I, Freilinger M, Landauer F, Waldmüller S, Mueller-Felber W, Rauscher C, Sperl W, Bittner RE, Schmidt WM, Mayr JA. Bader I, et al. Among authors: freilinger m. Orphanet J Rare Dis. 2022 Jul 19;17(1):279. doi: 10.1186/s13023-022-02421-7. Orphanet J Rare Dis. 2022. PMID: 35854315 Free PMC article. Review.
50 results