Choline‐related‐inherited metabolic diseases—A mini review

por Wortmann, Saskia B., Mayr, Johannes A.
Publicado en J Inherit Metab Dis (2019)

Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma

por Zimmermann, Franz A., Neureiter, Daniel, Sperl, Wolfgang, Mayr, Johannes A., Kofler, Barbara
Publicado en Cells (2018)

The Mitochondrial Phosphate Carrier: role in oxidative metabolism, calcium handling and mitochondrial disease

por Seifert, Erin L., Ligeti, Erzsébet, Mayr, Johannes A., Sondheimer, Neal, Hajnóczky, György
Publicado en Biochem Biophys Res Commun (2015)

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene

por Stojanović, Vesna, Mayr, Johannes A., Sperl, Wolfgang, Barišić, Nenad, Doronjski, Aleksandra, Milak, Gordana
Publicado 2013

Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer

por Feichtinger, René G., Schäfer, Georg, Seifarth, Christof, Mayr, Johannes A., Kofler, Barbara, Klocker, Helmut
Publicado en Oxid Med Cell Longev (2018)

Functional Differences between Mitochondrial Haplogroup T and Haplogroup H in HEK293 Cybrid Cells

por Mueller, Edith E., Brunner, Susanne M., Mayr, Johannes A., Stanger, Olaf, Sperl, Wolfgang, Kofler, Barbara
Publicado 2012

Mutations in NDUFS1 Cause Metabolic Reprogramming and Disruption of the Electron Transfer

por Ni, Yang, Hagras, Muhammad A., Konstantopoulou, Vassiliki, Mayr, Johannes A., Stuchebrukhov, Alexei A., Meierhofer, David
Publicado en Cells (2019)

Previously Unreported Biallelic Mutation in DNAJC19: Are Sensorineural Hearing Loss and Basal Ganglia Lesions Additional Features of Dilated Cardiomyopathy and Ataxia (DCMA) Syndro...

por Ucar, Sema Kalkan, Mayr, Johannes A., Feichtinger, René G., Canda, Ebru, Çoker, Mahmut, Wortmann, Saskia B.
Publicado en JIMD Rep (2016)

Protein Sets Define Disease States and Predict In Vivo Effects of Drug Treatment

por Meierhofer, David, Weidner, Christopher, Hartmann, Ludger, Mayr, Johannes A., Han, Chung-Ting, Schroeder, Frank C., Sauer, Sascha
Publicado 2013

Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors

por Feichtinger, René G., Weis, Serge, Mayr, Johannes A., Zimmermann, Franz A., Bogner, Barbara, Sperl, Wolfgang, Kofler, Barbara
Publicado en Neuro Oncol (2016)

Mitochondrial Haplogroups and Control Region Polymorphisms Are Not Associated with Prostate Cancer in Middle European Caucasians

por Mueller, Edith E., Eder, Waltraud, Mayr, Johannes A., Paulweber, Bernhard, Sperl, Wolfgang, Horninger, Wolfgang, Klocker, Helmut, Kofler, Barbara
Publicado 2009

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report

por Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas
Publicado en BMC Med Genet (2020)

Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation

por Mayr, Johannes A., Zimmermann, Franz A., Fauth, Christine, Bergheim, Christa, Meierhofer, David, Radmayr, Doris, Zschocke, Johannes, Koch, Johannes, Sperl, Wolfgang
Publicado 2011

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

por Feichtinger Rene' G, Zimmermann Franz, Mayr Johannes A, Neureiter Daniel, Hauser-Kronberger Cornelia, Schilling Freimut H, Jones Neil, Sperl Wolfgang, Kofler Barbara
Publicado 2010-04-01

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

por Feichtinger, Rene' G, Zimmermann, Franz, Mayr, Johannes A, Neureiter, Daniel, Hauser-Kronberger, Cornelia, Schilling, Freimut H, Jones, Neil, Sperl, Wolfgang, Kofler, Barbara
Publicado 2010

Age-Related Deterioration of Mitochondrial Function in the Intestine

por Schneider, Anna M., Özsoy, Mihriban, Zimmermann, Franz A., Feichtinger, René G., Mayr, Johannes A., Kofler, Barbara, Sperl, Wolfgang, Weghuber, Daniel, Mörwald, Katharina
Publicado en Oxid Med Cell Longev (2020)

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families

por Ayyıldız Civan, Hasret, Leitner, Coleen, Östreicher, Iris, Schneider, Anna-Maria, Cremer, Malte, Mayr, Johannes A., Rossi, Rainer, Müller, Thomas, Janecke, Andreas R.
Publicado en Children (Basel) (2021)

Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians

por Ebner, Sabine, Lang, Roland, Mueller, Edith E., Eder, Waltraud, Oeller, Michaela, Moser, Alexandra, Koller, Josef, Paulweber, Bernhard, Mayr, Johannes A., Sperl, Wolfgang, Kofler, Barbara
Publicado 2011

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis

por Feichtinger, René G., Neureiter, Daniel, Skaria, Tom, Wessler, Silja, Cover, Timothy L., Mayr, Johannes A., Zimmermann, Franz A., Posselt, Gernot, Sperl, Wolfgang, Kofler, Barbara
Publicado en Oxid Med Cell Longev (2017)

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

por Mayr, Johannes A., Freisinger, Peter, Schlachter, Kurt, Rolinski, Boris, Zimmermann, Franz A., Scheffner, Thomas, Haack, Tobias B., Koch, Johannes, Ahting, Uwe, Prokisch, Holger, Sperl, Wolfgang
Publicado 2011