The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

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

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

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

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

(2010) A. S. Lebre et al.   JOURNAL OF MEDICAL GENETICS

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

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

(2010) Sarah E Calvo et al.   NATURE GENETICS

Clinical Manifestations in Children With Mitochondrial Diseases

(2010) Ching-Shiang Chi et al.   PEDIATRIC NEUROLOGY

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies

(2009) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia

(2009) Kang Wang et al.   NEUROGENETICS

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

(2009) Hsiu-Fen Lee et al.   PEDIATRIC NEUROLOGY

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

(2009) Klaus G.E. Werner et al.   PEDIATRIC NEUROLOGY

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy

(2007) S. Bannwarth et al.   MITOCHONDRION