Johannes A. Mayr

Overview

Best Publications

• Genetic diagnosis of Mendelian disorders via RNA sequencing

  Laura S. Kremer;Daniel M. Bader;Daniel M. Bader;Christian Mertes;Robert Kopajtich

  522
  Citations

• Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

  R Horvath;G Hudson;G Ferrari;N Futterer

  447
  Citations

• Lipoic acid biosynthesis defects

  Johannes A. Mayr;René G. Feichtinger;Frederic Tort;Antonia Ribes

  263
  Citations

• TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.

  Alena Cízková;Viktor Stránecký;Johannes A Mayr;Markéta Tesarová

  253
  Citations

• Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

  Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann

  232
  Citations

• Deficient methylation and formylation of mt-tRNA Met wobble cytosine in a patient carrying mutations in NSUN3

  Lindsey Van Haute;Sabine Dietmann;Laura Kremer;Shobbir Hussain

  222
  Citations

• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

  Tobias B Haack;Birgit Haberberger;Eva-Maria Frisch;Thomas Wieland

  218
  Citations

• Inhibition of Neuroblastoma Tumor Growth by Ketogenic Diet and/or Calorie Restriction in a CD1-Nu Mouse Model

  Raphael Johannes Morscher;Sepideh Aminzadeh-Gohari;René Gunther Feichtinger;Johannes Adalbert Mayr

  197
  Citations

• Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

  Johannes A. Mayr;Olaf Merkel;Sepp D. Kohlwein;Boris R. Gebhardt

  190
  Citations

• Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.

  David Meierhofer;David Meierhofer;Johannes A. Mayr;Ulrike Foetschl;Alexandra Berger

  180
  Citations

• Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma

  Johannes A. Mayr;David Meierhofer;David Meierhofer;Franz Zimmermann;Rene Feichtinger

  176
  Citations

• Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 ε subunit

  Johannes A. Mayr;Vendula Havlíčková;Franz Zimmermann;Iris Magler

  170
  Citations

• Biliary atresia: swiss national study, 1994-2004

  Barbara Wildhaber;Pietro Majno;Johannes Mayr;Zacharias Zachariou

  169
  Citations

• ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

  Tobias B. Haack;Robert Kopajtich;Peter Freisinger;Thomas Wieland

  164
  Citations

• Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

  Xiaowu Gai;Daniele Ghezzi;Mark A. Johnson;Caroline A. Biagosch

  161
  Citations

• Serine Catabolism Feeds NADH when Respiration Is Impaired.

  Lifeng Yang;Juan Carlos Garcia Canaveras;Zihong Chen;Lin Wang

  156
  Citations

• Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

  Robert Kopajtich;Thomas J. Nicholls;Joanna Rorbach;Metodi D. Metodiev

  148
  Citations

• Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy

  Johannes Koch;René G Feichtinger;Peter Freisinger;Mechthild Pies

  148
  Citations

• A ketogenic diet supplemented with medium-chain triglycerides enhances the anti-tumor and anti-angiogenic efficacy of chemotherapy on neuroblastoma xenografts in a CD1-nu mouse model

  Sepideh Aminzadeh-Gohari;René Günther Feichtinger;Silvia Vidali;Felix Locker

  148
  Citations

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

  Johannes A. Mayr;Franz A. Zimmermann;Christine Fauth;Christa Bergheim

  142
  Citations