Elsebet Østergaard

A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, I.F.M. de Coo, Pirjo Isohanni et al. · Orphanet Journal of Rare Diseases · 2014 · 245 citations · Full text

Life Sciences, Neurology, Pediatrics +12

Deficiency of the α Subunit of Succinate–Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Elsebet Østergaard, Ernst Christensen, Elisabeth Kristensen et al. · The American Journal of Human Genetics · 2007 · 182 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect

Hana Antonická, Elsebet Østergaard, Florin Sasarman et al. · The American Journal of Human Genetics · 2010 · 160 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +12

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Michael A. Levy, Haley McConkey, Jennifer Kerkhof et al. · Human Genetics and Genomics Advances · 2021 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

<i>POLG</i> mutations in Alpers syndrome

Khue Vu Nguyen, Elsebet Østergaard, Søren Ravn et al. · Neurology · 2005 · 150 citations

Life Sciences, Genetics, Molecular Genetics +14