Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

(2016) Charlotte L. Alston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A homozygous nonsense variant inIFT52is associated with a human skeletal ciliopathy

(2016) K. M. Girisha et al.   CLINICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system

(2015) Febin Varghese et al.   HUMAN MOLECULAR GENETICS

Architecture of mammalian respiratory complex I

(2014) Kutti R. Vinothkumar et al.   NATURE

Crystal structure of the entire respiratory complex I

(2013) Rozbeh Baradaran et al.   NATURE

Activating ESR1 mutations in hormone-resistant metastatic breast cancer

(2013) Dan R Robinson et al.   NATURE GENETICS

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

(2012) Samantha E. Marin et al.   GENE

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

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

Siblings With Leukoencephalopathy

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