Published in Mitochondrion on July 22, 2010
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30
Mitochondrial ATP synthase: architecture, function and pathology. J Inherit Metab Dis (2011) 1.19
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet (2015) 1.09
Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol (2013) 1.04
A Mitochondrial DNA A8701G Mutation Associated with Maternally Inherited Hypertension and Dilated Cardiomyopathy in a Chinese Pedigree of a Consanguineous Marriage. Chin Med J (Engl) (2016) 0.98
Reticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons. Hum Mol Genet (2012) 0.95
Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background. Toxicol Sci (2013) 0.94
Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation. Mol Genet Metab Rep (2016) 0.94
Understanding structure, function, and mutations in the mitochondrial ATP synthase. Microb Cell (2015) 0.81
Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia. J Neurol (2011) 0.77
Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy? Mol Genet Metab Rep (2016) 0.75
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain (2017) 0.75
Effects of purifying and adaptive selection on regional variation in human mtDNA. Science (2004) 5.87
An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Mitochondrial energetics and therapeutics. Annu Rev Pathol (2010) 3.07
The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype. Brain (2011) 3.04
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet (2012) 2.65
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
BDNF val66met polymorphism is associated with modified experience-dependent plasticity in human motor cortex. Nat Neurosci (2006) 2.54
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06
Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism. Biochim Biophys Acta (2010) 1.79
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat (2004) 1.76
Estrogen increases mitochondrial efficiency and reduces oxidative stress in cerebral blood vessels. Mol Pharmacol (2005) 1.75
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity. PLoS One (2011) 1.73
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Heterozygous OPA1 mutations in Behr syndrome. Brain (2010) 1.57
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50
Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet (2004) 1.49
Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients. Hum Mutat (2007) 1.48
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab (2009) 1.47
BDNF val66met polymorphism influences motor system function in the human brain. Cereb Cortex (2009) 1.46
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat (2014) 1.45
eOPA1: an online database for OPA1 mutations. Hum Mutat (2005) 1.43
OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol (2009) 1.40
Mitochondrial dynamics and disease, OPA1. Biochim Biophys Acta (2006) 1.35
Two-step differential expression analysis reveals a new set of genes involved in thyroid oncocytic tumors. J Clin Endocrinol Metab (2004) 1.35
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene (2006) 1.31
Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. Hum Mutat (2005) 1.31
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J Cell Physiol (2007) 1.30
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
Structure and chromosomal distribution of human mitochondrial pseudogenes. Genomics (2002) 1.27
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Estrogen suppresses brain mitochondrial oxidative stress in female and male rats. Brain Res (2007) 1.25
Mitochondrial effects of estrogen are mediated by estrogen receptor alpha in brain endothelial cells. J Pharmacol Exp Ther (2008) 1.24
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
OPA1 functions in mitochondria and dysfunctions in optic nerve. Int J Biochem Cell Biol (2009) 1.19
Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat (2007) 1.19
Transcriptional profiling reveals coordinated up-regulation of oxidative metabolism genes in thyroid oncocytic tumors. J Clin Endocrinol Metab (2004) 1.19
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol (2005) 1.18
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res (2010) 1.17
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXE. Arch Dermatol (2008) 1.17
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain (2012) 1.17
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol (2002) 1.14
PGC-1-related coactivator and targets are upregulated in thyroid oncocytoma. Biochem Biophys Res Commun (2003) 1.14
Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease. Ann Neurol (2007) 1.13
Estrogen and mitochondria: a new paradigm for vascular protection? Mol Interv (2006) 1.13
Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations. Exp Neurol (2010) 1.12
Dominant optic atrophy. Orphanet J Rare Dis (2012) 1.11
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Am J Med Genet A (2007) 1.11
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet (2007) 1.10
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
Skeletal muscle transcriptional coactivator PGC-1α mediates mitochondrial, but not metabolic, changes during calorie restriction. Proc Natl Acad Sci U S A (2012) 1.10
Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease. Nat Protoc (2006) 1.09
Role of SUV3 helicase in maintaining mitochondrial homeostasis in human cells. J Biol Chem (2008) 1.09
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet (2006) 1.08
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat (2011) 1.06
Perrault syndrome: report of four new cases, review and exclusion of candidate genes. Am J Med Genet A (2008) 1.04
Four-year follow-up of diagnostic service in USH1 patients. Invest Ophthalmol Vis Sci (2011) 1.03