Choline‐related‐inherited metabolic diseases—A mini review

por Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2019

The Switch in the Diagnosis of Mitochondrial Diseases from the Classical ‘Function First’ To the NGS-based ‘Genetics First’ Diagnostic Era

por Sperl, Wolfgang, Wortmann, Saskia, Feichtinger, René G., Mayr, Johannes A.
Publicado 2020

Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma

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

Case Report—An Inherited Loss-of-Function NRXN3 Variant Potentially Causes a Neurodevelopmental Disorder with Autism Consistent with Previously Described 14q24.3-31.1 Deletions

por Feichtinger, René G., Preisel, Martin, Brugger, Karin, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2023

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 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 2019

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and Renal Disorder Consistent with Previously Described Proximal Chromosome 19q13.11 Deletion Syndrome

por Feichtinger, René G., Preisel, Martin, Steinbrücker, Katja, Brugger, Karin, Radda, Alexandra, Wortmann, Saskia B., Mayr, Johannes A.
Publicado 2022

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 2020

Mitochondrial Disease and Hearing Loss in Children: A Systematic Review

por Roesch, Sebastian, O'Sullivan, Anna, Zimmermann, Georg, Mair, Alois, Lipuš, Cvetka, Mayr, Johannes A., Wortmann, Saskia B., Rasp, Gerd
Publicado 2022

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 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 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 2017

A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

por El-Gazzar, Ahmed, Mayr, Johannes A., Voraberger, Barbara, Brugger, Karin, Blouin, Stéphane, Tischlinger, Katharina, Duba, Hans-Christoph, Prokisch, Holger, Fratzl-Zelman, Nadja, Högler, Wolfgang
Publicado 2021

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder

por Feichtinger, René G, Hüllen, Andreas, Koller, Andreas, Kotzot, Dieter, Grote, Valerian, Rapp, Erdmann, Hofbauer, Peter, Brugger, Karin, Thiel, Christian, Mayr, Johannes A, Wortmann, Saskia B
Publicado 2021

Hydrogen Sulfide Metabolizing Enzymes in the Intestinal Mucosa in Pediatric and Adult Inflammatory Bowel Disease

por Stummer, Nathalie, Weghuber, Daniel, Feichtinger, René G., Huber, Sara, Mayr, Johannes A., Kofler, Barbara, Neureiter, Daniel, Klieser, Eckhard, Hochmann, Sarah, Lauth, Wanda, Schneider, Anna M.
Publicado 2022