The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts

(2010) M. Morán et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

(2009) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

(2009) M. Gerards et al.   JOURNAL OF MEDICAL GENETICS

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

(2009) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NDUFA2 Complex I Mutation Leads to Leigh Disease

(2008) Saskia J.G. Hoefs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS

Downregulation of Multiple Stress Defense Mechanisms During Differentiation of Human Embryonic Stem Cells

(2007) Gabriele Saretzki et al.   STEM CELLS