Works by Feichtinger, René G.

Results: 46
    1

    Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 3, p. 1, doi. 10.1002/jimd.70035
    By:
    • Hammann, Nicole;
    • Staufner, Christian;
    • Schlieben, Lea Dewi;
    • Dezsőfi‐Gottl, Antal;
    • Feichtinger, René G.;
    • Häberle, Johannes;
    • Junge, Norman;
    • Konstantopoulou, Vassiliki;
    • Kopajtich, Robert;
    • McLin, Valérie;
    • Rymen, Daisy;
    • Slavetinsky, Christoph;
    • Sturm, Ekkehard;
    • Mayr, Johannes A.;
    • Wagner, Matias;
    • Kölker, Stefan;
    • Prokisch, Holger;
    • Hoffmann, Georg F.;
    • Lenz, Dominic
    Publication type:
    Article
    2

    Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.

    Published in:
    Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
    By:
    • Wortmann, Saskia B.;
    • Timal, Sharita;
    • Venselaar, Hanka;
    • Wintjes, Liesbeth T.;
    • Kopajtich, Robert;
    • Feichtinger, René G.;
    • Onnekink, Carla;
    • Mühlmeister, Mareike;
    • Brandt, Ulrich;
    • Smeitink, Jan A.;
    • Veltman, Joris A.;
    • Sperl, Wolfgang;
    • Lefeber, Dirk;
    • Pruijn, Ger;
    • Stojanovic, Vesna;
    • Freisinger, Peter;
    • v Spronsen, Francjan;
    • Derks, Terry GJ;
    • Veenstra-Knol, Hermine E.;
    • Mayr, Johannes A
    Publication type:
    Article
    3

    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
    4

    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
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    Mitochondrial Oxidative Phosphorylation Alterations in Placental Tissues from Early- and Late-Onset Preeclampsia.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 9, p. 3951, doi. 10.3390/ijms26093951
    By:
    • Lehenauer, Theresa;
    • Jaksch-Bogensperger, Heidi;
    • Huber, Sara;
    • Weghuber, Daniel;
    • Fischer, Thorsten;
    • Mayr, Johannes A.;
    • Kofler, Barbara;
    • Neumayer, Bettina;
    • Gharehbaghi, Daniel;
    • Duggan-Peer, Michaela;
    • Brandstetter, Maximilian;
    • Fazelnia, Claudius;
    • Feichtinger, René G.
    Publication type:
    Article
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    Melanoma tumors exhibit a variable but distinct metabolic signature.

    Published in:
    Experimental Dermatology, 2018, v. 27, n. 2, p. 204, doi. 10.1111/exd.13465
    By:
    • Feichtinger, René G.;
    • Lang, Roland;
    • Geilberger, Reinhard;
    • Rathje, Florian;
    • Mayr, Johannes A.;
    • Sperl, Wolfgang;
    • Bauer, Johann W.;
    • Hauser‐Kronberger, Cornelia;
    • Kofler, Barbara;
    • Emberger, Michael
    Publication type:
    Article
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    Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.

    Published in:
    Human Molecular Genetics, 2023, v. 32, n. 6, p. 917, doi. 10.1093/hmg/ddac246
    By:
    • Arribas-Carreira, Laura;
    • Dallabona, Cristina;
    • Swanson, Michael A;
    • Farris, Joseph;
    • Østergaard, Elsebet;
    • Tsiakas, Konstantinos;
    • Hempel, Maja;
    • Aquaviva-Bourdain, Cecile;
    • Koutsoukos, Stefanos;
    • Stence, Nicholas V;
    • Magistrati, Martina;
    • Spector, Elaine B;
    • Kronquist, Kathryn;
    • Christensen, Mette;
    • Karstensen, Helena G;
    • Feichtinger, René G;
    • Achleitner, Melanie T;
    • II, J Lawrence Merritt;
    • Pérez, Belén;
    • Ugarte, Magdalena
    Publication type:
    Article
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    De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
    By:
    • Dias, Caroline;
    • Pfundt, Rolph;
    • Kleefstra, Tjitske;
    • Shuurs‐Hoeijmakers, Janneke;
    • Boon, Elles M. J.;
    • Hagen, Johanna M.;
    • Zwijnenburg, Petra;
    • Weiss, Marjan M.;
    • Keren, Boris;
    • Mignot, Cyril;
    • Isapof, Arnaud;
    • Weiss, Karin;
    • Hershkovitz, Tova;
    • Iascone, Maria;
    • Maitz, Silvia;
    • Feichtinger, René G.;
    • Kotzot, Dieter;
    • Mayr, Johannes A.;
    • Ben‐Omran, Tawfeg;
    • Mahmoud, Laila
    Publication type:
    Article
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    Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.

    Published in:
    Annals of Neurology, 2022, v. 91, n. 2, p. 225, doi. 10.1002/ana.26293
    By:
    • Zech, Michael;
    • Kopajtich, Robert;
    • Steinbrücker, Katja;
    • Bris, Céline;
    • Gueguen, Naig;
    • Feichtinger, René G.;
    • Achleitner, Melanie T.;
    • Duzkale, Neslihan;
    • Périvier, Maximilien;
    • Koch, Johannes;
    • Engelhardt, Harald;
    • Freisinger, Peter;
    • Wagner, Matias;
    • Brunet, Theresa;
    • Berutti, Riccardo;
    • Smirnov, Dmitrii;
    • Navaratnarajah, Tharsini;
    • Rodenburg, Richard J.T.;
    • Pais, Lynn S;
    • Austin‐Tse, Christina
    Publication type:
    Article
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    Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

    Published in:
    2021
    By:
    • Schänzer, Anne;
    • Achleitner, Melanie T.;
    • Trümbach, Dietrich;
    • Hubert, Laurence;
    • Munnich, Arnold;
    • Ahlemeyer, Barbara;
    • AlAbdulrahim, Maha M.;
    • Greif, Philipp A.;
    • Vosberg, Sebastian;
    • Hummer, Blake;
    • Feichtinger, René G.;
    • Mayr, Johannes A.;
    • Wortmann, Saskia B.;
    • Aichner, Heidi;
    • Rudnik‐Schöneborn, Sabine;
    • Ruiz, Anna;
    • Gabau, Elisabeth;
    • Sánchez, Jacobo Pérez;
    • Ellard, Sian;
    • Homfray, Tessa
    Publication type:
    journal article
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    Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
    By:
    • Feichtinger, René G.;
    • Brunner-Krainz, Michaela;
    • Alhaddad, Bader;
    • Wortmann, Saskia B.;
    • Kovacs-Nagy, Reka;
    • Stojakovic, Tatjana;
    • Erwa, Wolfgang;
    • Resch, Bernhard;
    • Windischhofer, Werner;
    • Verheyen, Sarah;
    • Uhrig, Sabine;
    • Windpassinger, Christian;
    • Locker, Felix;
    • Makowski, Christine;
    • Strom, Tim M.;
    • Meitinger, Thomas;
    • Prokisch, Holger;
    • Sperl, Wolfgang;
    • Haack, Tobias B.;
    • Mayr, Johannes A.
    Publication type:
    Article
    27

    Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/1320241
    By:
    • Feichtinger, René G.;
    • Neureiter, Daniel;
    • Skaria, Tom;
    • Wessler, Silja;
    • Cover, Timothy L.;
    • Mayr, Johannes A.;
    • Zimmermann, Franz A.;
    • Posselt, Gernot;
    • Sperl, Wolfgang;
    • Kofler, Barbara
    Publication type:
    Article
    28

    Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0254-5
    By:
    • Koch, Johannes;
    • Freisinger, Peter;
    • Feichtinger, René G.;
    • Zimmermann, Franz A.;
    • Rauscher, Christian;
    • Wagentristl, Hans P.;
    • Konstantopoulou, Vassiliki;
    • Seidl, Rainer;
    • Haack, Tobias B.;
    • Prokisch, Holger;
    • Ahting, Uwe;
    • Sperl, Wolfgang;
    • Mayr, Johannes A.;
    • Maier, Esther M.
    Publication type:
    Article
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    Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
    By:
    • Haghighi, Alireza;
    • Haack, Tobias B.;
    • Atiq, Mehnaz;
    • Mottaghi, Hassan;
    • Haghighi-Kakhki, Hamidreza;
    • Bashir, Rani A.;
    • Ahting, Uwe;
    • Feichtinger, René G.;
    • Mayr, Johannes A.;
    • Rötig, Agnès;
    • Lebre, Anne-Sophie;
    • Klopstock, Thomas;
    • Dworschak, Andrea;
    • Pulido, Nathan;
    • Saeed, Mahmood A.;
    • Saleh-Gohari, Nasrollah;
    • Holzerova, Eliska;
    • Chinnery, Patrick F.;
    • Taylor, Robert W.;
    • Prokisch, Holger
    Publication type:
    Article
    31

    Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

    Published in:
    2014
    By:
    • Haghighi, Alireza;
    • Haack, Tobias B;
    • Atiq, Mehnaz;
    • Mottaghi, Hassan;
    • Haghighi-Kakhki, Hamidreza;
    • Bashir, Rani A;
    • Ahting, Uwe;
    • Feichtinger, René G;
    • Mayr, Johannes A;
    • Rötig, Agnès;
    • Lebre, Anne-Sophie;
    • Klopstock, Thomas;
    • Dworschak, Andrea;
    • Pulido, Nathan;
    • Saeed, Mahmood A;
    • Saleh-Gohari, Nasrollah;
    • Holzerova, Eliska;
    • Chinnery, Patrick F;
    • Taylor, Robert W;
    • Prokisch, Holger
    Publication type:
    journal article
    32

    How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
    33

    Congenital disorders of glycosylation with defective fucosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1441, doi. 10.1002/jimd.12426
    By:
    • Hüllen, Andreas;
    • Falkenstein, Kristina;
    • Weigel, Corina;
    • Huidekoper, Hidde;
    • Naumann‐Bartsch, Nora;
    • Spenger, Johannes;
    • Feichtinger, René G.;
    • Schaefers, Jacqueline;
    • Frenz, Stephanie;
    • Kotlarz, Daniel;
    • Momen, Tooba;
    • Khoshnevisan, Razieh;
    • Riedhammer, Korbinian M.;
    • Santer, René;
    • Herget, Theresia;
    • Rennings, Alexander;
    • Lefeber, Dirk J.;
    • Mayr, Johannes A.;
    • Thiel, Christian;
    • Wortmann, Saskia B.
    Publication type:
    Article
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    Targeting Mitochondria in Melanoma.

    Published in:
    Biomolecules (2218-273X), 2020, v. 10, n. 10, p. 1395, doi. 10.3390/biom10101395
    By:
    • Aminzadeh-Gohari, Sepideh;
    • Weber, Daniela D.;
    • Catalano, Luca;
    • Feichtinger, René G.;
    • Kofler, Barbara;
    • Lang, Roland
    Publication type:
    Article
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    Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes.

    Published in:
    EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202114397
    By:
    • Vidali, Silvia;
    • Gerlini, Raffaele;
    • Thompson, Kyle;
    • Urquhart, Jill E;
    • Meisterknecht, Jana;
    • Aguilar‐Pimentel, Juan Antonio;
    • Amarie, Oana V;
    • Becker, Lore;
    • Breen, Catherine;
    • Calzada‐Wack, Julia;
    • Chhabra, Nirav F;
    • Cho, Yi‐Li;
    • da Silva‐Buttkus, Patricia;
    • Feichtinger, René G;
    • Gampe, Kristine;
    • Garrett, Lillian;
    • Hoefig, Kai P;
    • Hölter, Sabine M;
    • Jameson, Elisabeth;
    • Klein‐Rodewald, Tanja
    Publication type:
    Article
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    Age-Related Deterioration of Mitochondrial Function in the Intestine.

    Published in:
    Oxidative Medicine & Cellular Longevity, 2020, p. 1, doi. 10.1155/2020/4898217
    By:
    • Schneider, Anna M.;
    • Özsoy, Mihriban;
    • Zimmermann, Franz A.;
    • Feichtinger, René G.;
    • Mayr, Johannes A.;
    • Kofler, Barbara;
    • Sperl, Wolfgang;
    • Weghuber, Daniel;
    • Mörwald, Katharina
    Publication type:
    Article
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    A new ketogenic formulation improves functional outcome and reduces tissue loss following traumatic brain injury in adult mice.

    Published in:
    Theranostics, 2021, v. 11, n. 1, p. 346, doi. 10.7150/thno.48995
    By:
    • Thau-Zuchman, Orli;
    • Svendsen, Linda;
    • Dyall, Simon C.;
    • Paredes-Esquivel, Ursula;
    • Rhodes, Molly;
    • Priestley, John V.;
    • Feichtinger, René G.;
    • Kofler, Barbara;
    • Lotstra, Susanne;
    • Verkuy, J. Martin;
    • Hageman, Robert J.;
    • Broersen, Laus M.;
    • van Wijk, Nick;
    • Silva, Jose P.;
    • Tremoleda, Jordi L.;
    • Michael-Titus, Adina T.
    Publication type:
    Article
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