In the subject of Nuclear magnetic resonance spectroscopy, Wolfgang Sperl integrates adjacent scientific disciplines such as Nuclear magnetic resonance and Stereochemistry. He integrates Nuclear magnetic resonance and Nuclear magnetic resonance spectroscopy in his studies. He undertakes multidisciplinary studies into Stereochemistry and Amino acid in his work. Borrowing concepts from Taurine, he weaves in ideas under Amino acid. His Taurine study frequently draws connections between adjacent fields such as Biochemistry. His research on Biochemistry frequently links to adjacent areas such as Antioxidant. His Antioxidant study typically links adjacent topics like Herbal tea. His Internal medicine study often links to related topics such as Decompensation. His Endocrinology study frequently links to other fields, such as Propionic acidemia.
His study on Internal medicine is interrelated to topics such as Disease, Acidosis, Lactic acidosis and Hypotonia. Wolfgang Sperl carries out multidisciplinary research, doing studies in Hypotonia and Gene. He performs multidisciplinary study in the fields of Gene and Leigh disease via his papers. He incorporates Biochemistry and Enzyme in his studies. He performs multidisciplinary studies into Enzyme and Biochemistry in his work. His research on Endocrinology frequently connects to adjacent areas such as Lactic acidosis. He performs integrative study on Genetics and Mutation. Wolfgang Sperl performs multidisciplinary study in Mutation and Genetics in his work. In his research, Wolfgang Sperl performs multidisciplinary study on Pathology and Endocrinology.
His research on Sanger sequencing, Proband, Exome sequencing, Compound heterozygosity and Missense mutation is centered around Mutation. His Sanger sequencing study frequently links to adjacent areas such as Mutation. Wolfgang Sperl applies his multidisciplinary studies on Missense mutation and Phenotype in his research. Phenotype and Compound heterozygosity are commonly linked in his work. His study in Atrophy extends to Genetics with its themes. His work on Atrophy is being expanded to include thematically relevant topics such as Pathology. His study on Pathology is mostly dedicated to connecting different topics, such as Leukoencephalopathy. Wolfgang Sperl integrates many fields, such as Leukoencephalopathy and Gene, in his works. His Proband research extends to Gene, which is thematically connected.
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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Alena Cízková;Viktor Stránecký;Johannes A Mayr;Markéta Tesarová.
Nature Genetics (2008)
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Johannes A. Mayr;Tobias B. Haack;Elisabeth Graf;Franz A. Zimmermann.
American Journal of Human Genetics (2012)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B Haack;Birgit Haberberger;Eva-Maria Frisch;Thomas Wieland.
Journal of Medical Genetics (2012)
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene
Rob Ofman;Jos P. N. Ruiter;Marike Feenstra;Marinus Duran.
American Journal of Human Genetics (2003)
Lipoic acid biosynthesis defects
Johannes A. Mayr;René G. Feichtinger;Frederic Tort;Antonia Ribes.
Journal of Inherited Metabolic Disease (2014)
Decrease of mitochondrial DNA content and energy metabolism in renal cell carcinoma.
David Meierhofer;David Meierhofer;Johannes A. Mayr;Ulrike Foetschl;Alexandra Berger.
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
Johannes A. Mayr;Olaf Merkel;Sepp D. Kohlwein;Boris R. Gebhardt.
American Journal of Human Genetics (2007)
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.
PLOS ONE (2015)
Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma
Johannes A. Mayr;David Meierhofer;David Meierhofer;Franz Zimmermann;Rene Feichtinger.
Clinical Cancer Research (2008)
Mitochondrial translation requires folate-dependent tRNA methylation
Raphael J. Morscher;Gregory S. Ducker;Sophia Hsin Jung Li;Johannes A. Mayer.
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