Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

A scaffold of accessory subunits links the peripheral arm and the distal proton-pumping module of mitochondrial complex I

(2011) Heike Angerer et al.   BIOCHEMICAL JOURNAL

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

(2011) C Vilain et al.   CLINICAL GENETICS

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The molecular basis of human complex I deficiency

(2011) Elena J. Tucker et al.   IUBMB LIFE

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

(2011) Ann Saada et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

(2011) E. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency

(2011) Johannes A. Mayr et al.   MOLECULAR GENETICS AND METABOLISM

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

(2011) Mariana Ferreira et al.   NEUROGENETICS

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

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

(2010) Helen A. L. Tuppen et al.   BRAIN

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

(2010) Saskia J G Hoefs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

(2010) Elisa Fassone et al.   HUMAN MOLECULAR GENETICS

Assembly factors of human mitochondrial complex I and their defects in disease

(2010) Matthew Mckenzie et al.   IUBMB LIFE

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

(2010) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

(2010) Saskia J.G. Hoefs et al.   MOLECULAR GENETICS AND METABOLISM

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

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

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

(2009) Ronen Spiegel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

(2009) Saskia J.G. Hoefs et al.   HUMAN MUTATION

The structure of eukaryotic and prokaryotic complex I

(2009) T. Clason et al.   JOURNAL OF STRUCTURAL BIOLOGY

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

(2009) E. Leshinsky-Silver et al.   MOLECULAR GENETICS AND METABOLISM

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

(2009) Prasanth Potluri 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

A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family

(2008) S. L. Anderson et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

(2008) Flora Barghuti et al.   MOLECULAR GENETICS AND METABOLISM

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course

(2008) D. Zafeiriou et al.   NEUROPEDIATRICS

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

Siblings With Leukoencephalopathy

(2008) Galen N. Breningstall et al.   Seminars in Pediatric Neurology