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Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet. 2016 Sep 1;99(3):674-682. doi: 10.1016/j.ajhg.2016.06.027. Epub 2016 Aug 11.
Am J Hum Genet. 2016.
PMID: 27523597
Free PMC article.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA.
Piekutowska-Abramczuk D, et al. Among authors: matakovic l.
Am J Hum Genet. 2018 Mar 1;102(3):460-467. doi: 10.1016/j.ajhg.2018.01.008. Epub 2018 Feb 8.
Am J Hum Genet. 2018.
PMID: 29429571
Free PMC article.
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Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Banka S, de Goede C, Yue WW, Morris AA, von Bremen B, Chandler KE, Feichtinger RG, Hart C, Khan N, Lunzer V, Mataković L, Marquardt T, Makowski C, Prokisch H, Debus O, Nosaka K, Sonwalkar H, Zimmermann FA, Sperl W, Mayr JA.
Banka S, et al. Among authors: matakovic l.
Mol Genet Metab. 2014 Dec;113(4):301-6. doi: 10.1016/j.ymgme.2014.09.010. Epub 2014 Oct 5.
Mol Genet Metab. 2014.
PMID: 25458521
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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H.
Olsen RKJ, et al. Among authors: matakovic l.
Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006.
Am J Hum Genet. 2016.
PMID: 27259049
Free PMC article.
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Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.
Overeem AW, Klappe K, Parisi S, Klöters-Planchy P, Mataković L, du Teil Espina M, Drouin CA, Weiss KH, van IJzendoorn SCD.
Overeem AW, et al. Among authors: matakovic l.
J Hepatol. 2019 Aug;71(2):344-356. doi: 10.1016/j.jhep.2019.03.031. Epub 2019 Apr 6.
J Hepatol. 2019.
PMID: 30965071
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Letter to the Editor: Liver Cell Models for Premature Termination Codon Readthrough Analyses.
Matakovic L, Li Q, van Ijzendoorn SCD.
Matakovic L, et al.
Hepatology. 2021 Sep;74(3):1711-1712. doi: 10.1002/hep.31682. Epub 2021 Jun 15.
Hepatology. 2021.
PMID: 33314224
Free PMC article.
No abstract available.
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Induction of Bile Canaliculi-Forming Hepatocytes from Human Pluripotent Stem Cells.
Matakovic L, Overeem AW, Klappe K, van IJzendoorn SCD.
Matakovic L, et al.
Methods Mol Biol. 2022;2544:71-82. doi: 10.1007/978-1-0716-2557-6_4.
Methods Mol Biol. 2022.
PMID: 36125710
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