Birgit Haberberger
Helmholtz Zentrum München(DE)Technical University of Munich(DE)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, RNA modifications and cancer, ATP Synthase and ATPases Research, Biochemical Acid Research Studies
Most-Cited Works
- → ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption(2013)335 cited
- → Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency(2010)249 cited
- → Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome(2012)218 cited
- → Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing(2012)184 cited
- → Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings(2012)93 cited
- → Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9(2011)91 cited
- → Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency(2013)83 cited
- → Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening(2013)65 cited
- → Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency(2015)63 cited
- → High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood(2015)33 cited