Sensorineural hearing loss in OPA1-linked disorders.

Disturbed mitochondrial dynamics and neurodegenerative disorders. Nat Rev Neurol (2014) 1.52

SIRT3 deacetylates and activates OPA1 to regulate mitochondrial dynamics during stress. Mol Cell Biol (2013) 1.15

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation. Brain (2015) 0.82

Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. J Neurol (2015) 0.79

Reply: Sensorineural hearing loss in OPA1-linked disorders. Brain (2013) 0.76

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. Eye (Lond) (2016) 0.75

Multi-system neurological disease is common in patients with OPA1 mutations. Brain (2010) 5.37

Effects of purifying and adaptive selection on regional variation in human mtDNA. Science (2004) 5.87

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem (2002) 5.61

An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51

Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet (2003) 4.01

Central serous chorioretinopathy. Acta Ophthalmol (2007) 3.83

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

Safety and efficacy of ranibizumab in diabetic macular edema (RESOLVE Study): a 12-month, randomized, controlled, double-masked, multicenter phase II study. Diabetes Care (2010) 3.29

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain (2007) 3.14

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07

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

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett (2002) 2.30

ASGE Bariatric Endoscopy Task Force systematic review and meta-analysis assessing the ASGE PIVI thresholds for adopting endoscopic bariatric therapies. Gastrointest Endosc (2015) 2.19

Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy. Ophthalmology (2013) 2.08

Metamorphopsia assessment before and after vitrectomy for macular hole. Invest Ophthalmol Vis Sci (2009) 2.07

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain (2013) 2.02

Eye movement control by the cerebral cortex. Curr Opin Neurol (2004) 2.01

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93

Phenotype associated with APP duplication in five families. Brain (2006) 1.83

Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolism. Biochim Biophys Acta (2010) 1.79

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Am J Hum Genet (2004) 1.78

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol (2013) 1.77

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

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab (2002) 1.65

Incidence of legal blindness from age-related macular degeneration in denmark: year 2000 to 2010. Am J Ophthalmol (2012) 1.63

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62

Retinal atrophy in idiopathic central serous chorioretinopathy. Am J Ophthalmol (2002) 1.60

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

In vivo evidence for the selective subcortical degeneration in Huntington's disease. Neuroimage (2009) 1.56

Comorbidity in patients with branch retinal vein occlusion: case-control study. BMJ (2012) 1.56

Rates of progression in diabetic retinopathy during different time periods: a systematic review and meta-analysis. Diabetes Care (2009) 1.55

OPA1 cleavage depends on decreased mitochondrial ATP level and bivalent metals. Exp Cell Res (2007) 1.55

Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans. Digestion (2006) 1.53

Evaluation of prevalence and clinical implications of anthelmintic resistance in gastrointestinal nematodes in goats. J Am Vet Med Assoc (2003) 1.51

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet (2013) 1.50

Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation. Invest Ophthalmol Vis Sci (2012) 1.50

Subfoveal choroidal thickness in relation to sex and axial length in 93 Danish university students. Invest Ophthalmol Vis Sci (2011) 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

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome. Hum Mutat (2010) 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

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44

eOPA1: an online database for OPA1 mutations. Hum Mutat (2005) 1.43

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies. J Clin Invest (2016) 1.41

OPA1-associated disorders: phenotypes and pathophysiology. Int J Biochem Cell Biol (2009) 1.40

[Age-related macular degeneration. The Danish Society of Ophthalmology]. Ugeskr Laeger (2006) 1.39

[Photopsies can have other causes than retinal detachment]. Ugeskr Laeger (2004) 1.39

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet (2002) 1.36

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat (2011) 1.36

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