Egill Briem

The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool

Alessandro Achilli, Chiara Rengo, Chiara Magri et al. · The American Journal of Human Genetics · 2004 · 455 citations · Full text

Phylogenetics, Molecular Ecology, Natural Sciences +8

Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 259 citations

Down Syndrome, Primary Immunodeficiency, Developmental Anomaly +10

Ethylmalonic Encephalopathy Is Caused by Mutations in ETHE1, a Gene Encoding a Mitochondrial Matrix Protein

Valeria Tiranti, Pio D’Adamo, Egill Briem et al. · The American Journal of Human Genetics · 2004 · 201 citations · Full text

Neurodegenerative Diseases, Mitochondrial Function, Genetic Disorder +11

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Robert W. Taylor, Martina T. McDonnell, Emma L. Blakely et al. · Annals of Neurology · 2003 · 91 citations

<i>ETHE1</i> mutations are specific to ethylmalonic encephalopathy

Valeria Tiranti, Egill Briem, Eleonora Lamantea et al. · Journal of Medical Genetics · 2005 · 89 citations · Full text