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Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.Acta Neuropathologica|July 10, 2016
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueLilli Winter, Ilka Wittig, Viktoriya Peeva, et al.Free Radical Biology & Medicine|November 20, 2016
Cytochrome P450 enzymes but not NADPH oxidases are the source of the NADPH-dependent lucigenin chemiluminescence in membrane assaysFlávia Rezende, Kim-Kristin Prior, Oliver Löwe, et al.Nature Genetics|November 9, 2010
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiencyTobias B Haack, Katharina Danhauser, Birgit Haberberger, et al.Molecular Genetics and Metabolism|January 28, 2014
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningTobias B Haack, Matteo Gorza, Katharina Danhauser, et al.Plos One|December 16, 2014
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathyLore Becker, Eva Kling, Evelyn Schiller, et al.Journal of Medical Genetics|April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingTobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.Pageof 2