The clinical and genetic characteristics in children with mitochondrial disease in China

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Multiple sclerosis and mitochondrial gene variations: A review

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Targeted exome sequencing of suspected mitochondrial disorders

(2013) D. S. Lieber et al.   NEUROLOGY

Next-generation genetic testing for retinitis pigmentosa

(2012) Kornelia Neveling et al.   HUMAN MUTATION

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

MELAS: A nationwide prospective cohort study of 96 patients in Japan

(2011) Shuichi Yatsuga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Leber’s Hereditary Optic Neuropathy Mutations Associated With Infantile-Onset Myoclonic Epilepsy

(2011) Richard E. Frye   JOURNAL OF CHILD NEUROLOGY

High-quality DNA sequence capture of 524 disease candidate genes

(2011) P. Shen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Next generation sequence analysis for mitochondrial disorders

(2009) Valeria Vasta et al.   Genome Medicine

The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome

(2008) Sara Shanske et al.   ARCHIVES OF NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL