A case report: New-onset refractory status epilepticus in a patient with FASTKD2 -related mitochondrial disease
Astner-Rohracher, Alexandra, Mauritz, Matthias, Leitinger, Markus, Rossini, Fabio, Kalss, Gudrun, Neuray, Caroline, Retter, Elisabeth, Wortmann, Saskia B, Achleitner, Melanie T, Mayr, Johannes A, Trinka, Eugen
Published in Frontiers in neurology (11.01.2023)
Published in Frontiers in neurology (11.01.2023)
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
Achleitner, Melanie T, Jans, Judith J. M, Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G, Brugger, Karin, Mayr, Doris, Wevers, Ron A, Thiel, Christian, Wortmann, Saskia B, Mayr, Johannes A
Published in Metabolites (01.11.2023)
Published in Metabolites (01.11.2023)
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Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes
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, O'Leary, Melanie, Boesch, Sylvia, Jech, Robert, Bakhtiari, Somayeh, Jin, Sheng Chih, Wilbert, Friederike, Kruer, Michael C, Wortmann, Saskia B., Eckenweiler, Matthias, Mayr, Johannes A., Distelmaier, Felix, Steinfeld, Robert, Winkelmann, Juliane, Prokisch, Holger
Published in Annals of neurology (01.02.2022)
Published in Annals of neurology (01.02.2022)
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Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine
Oswald, Susanne L, Steinbrücker, Katja, Achleitner, Melanie T, Göschl, Elisabeth, Bittner, Reginald E, Schmidt, Wolfgang M, Tiefenthaler, Elke, Hammerl, Emma, Eisl, Anna, Mayr, Doris, Mayr, Johannes A, Wortmann, Saskia B
Published in Neuropediatrics (01.10.2023)
Published in Neuropediatrics (01.10.2023)
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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
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, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K
Published in Human molecular genetics (06.03.2023)
Published in Human molecular genetics (06.03.2023)
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Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liver
Mihaljević, Mihaela, Petković Ramadža, Danijela, Žigman, Tamara, Rako, Ivana, Galić, Slobodan, Matić, Toni, Rubić, Filip, Čulo Čagalj, Ivana, Mayer, Davor, Gojević, Ante, Ćavar, Stanko, Ćorić, Marijana, Achleitner, Melanie T., Mayr, Johannes A., Fumić, Ksenija, Vuković, Jurica, Barić, Ivo
Published in JIMD reports (01.09.2024)
Published in JIMD reports (01.09.2024)
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The phenotypic spectrum of PTCD3 deficiency
Lace, Baiba, Faqeih, Eissa, Kaya, Namik, Krumina, Zita, Mayr, Johannes A., Micule, Ieva, Wright, Nathan Thompson, Achleitner, Melanie T., AlQudairy, Hanan, Pajusalu, Sander, Stavusis, Janis, Zayakin, Pawel, Inashkina, Inna
Published in JIMD reports (01.09.2024)
Published in JIMD reports (01.09.2024)
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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
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, Stals, Karen L., Wurst, Wolfgang, Neubauer, Bernd A., Acker, Till, Bohlander, Stefan K., Asensio, Cédric, Besmond, Claude, Alkuraya, Fowzan S., AlSayed, Moenaldeen D., Hahn, Andreas, Weber, Axel
Published in Annals of neurology (01.07.2021)
Published in Annals of neurology (01.07.2021)
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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier, Anne, Achleitner, Melanie T, Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E, Grove, Megan E, Tysoe, Carolyn J, Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L, Knowles, Charlotte V, Brett, Laura, Till, Jan A, Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A, Lichkus, Kate S, Sankaran, Bindu P, Kennedy, Hannah L, George, Peter M, Kidd, Alexa, Wortmann, Saskia B, Fisk, Dianna G, Koopmann, Tamara T, Rafiq, Muhammad A, Merker, Jason D, Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G, Ma, Alan S, Turner, Christian, Ellaway, Carolyn J, Phillips, Liza K, Thorburn, David R, Chung, Wendy K, Kana, Sajel L, Faye-Petersen, Ona M, Thompson, Michelle L, Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M, Morris-Rosendahl, Deborah J, Hurst, Anna C E, Turner, Claire L S, Hamilton, Robert M, Taylor, Robert W, Bajolle, Fanny, Gordon, Christopher T, Amiel, Jeanne, Mayr, Johannes A, Doudney, Kit
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier, Anne, Achleitner, Melanie T., Moreau de Bellaing, Anne, Edwards, Matthew, de Pontual, Loïc, Mittal, Kirti, Dunn, Kyla E., Grove, Megan E., Tysoe, Carolyn J., Dimartino, Clémantine, Cameron, Jessie, Kanthi, Anil, Shukla, Anju, van den Broek, Florence, Chatterjee, Diptendu, Alston, Charlotte L., Knowles, Charlotte V., Brett, Laura, Till, Jan A., Homfray, Tessa, French, Paul, Spentzou, Georgia, Elserafy, Noha A., Lichkus, Kate S., Sankaran, Bindu P., Kennedy, Hannah L., George, Peter M., Kidd, Alexa, Wortmann, Saskia B., Fisk, Dianna G., Koopmann, Tamara T., Rafiq, Muhammad A., Merker, Jason D., Parikh, Sumith, Ahimaz, Priyanka, Weintraub, Robert G., Ma, Alan S., Turner, Christian, Ellaway, Carolyn J., Phillips, Liza K., Thorburn, David R., Chung, Wendy K., Kana, Sajel L., Faye-Petersen, Ona M., Thompson, Michelle L., Janin, Alexandre, McLeod, Karen, McGowan, Ruth, McFarland, Robert, Girisha, Katta M., Morris-Rosendahl, Deborah J., Hurst, Anna C.E., Turner, Claire L.S., Hamilton, Robert M., Taylor, Robert W., Bajolle, Fanny, Gordon, Christopher T., Amiel, Jeanne, Mayr, Johannes A., Doudney, Kit
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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