Marisa W. Friederich

Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation

Agnieszka A. Kendrick, Mahua Choudhury, Shaikh Mizanoor Rahman et al. · Biochemical Journal · 2010 · 379 citations

Life Sciences, Biochemistry, Aging +16

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson et al. · Brain · 2013 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Monika Oláhová, Wan Hee Yoon, Kyle Thompson et al. · The American Journal of Human Genetics · 2018 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

F.‐Nora Vögtle, Björn Brändl, Austin Larson et al. · The American Journal of Human Genetics · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Clinical and biochemical characterization of four patients with mutations in ECHS1

Sacha Ferdinandusse, Marisa W. Friederich, Alberto Burlina et al. · Orphanet Journal of Rare Diseases · 2015 · 84 citations · Full text

Life Sciences, Biochemistry, Genetics +17