about
Multi-system neurological disease is common in patients with OPA1 mutationsOpa1 is required for proper mitochondrial metabolism in early developmentSyndromic parkinsonism and dementia associated with OPA1 missense mutationsA novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionMitochondrial function in vascular endothelial cell in diabetesImproved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.Identification and replication of three novel myopia common susceptibility gene loci on chromosome 3q26 using linkage and linkage disequilibrium mapping.OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophySolving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy.Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.The neuro-ophthalmology of mitochondrial diseaseDominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathiesPattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutationsRegulation of mitochondrial morphology and function by O-GlcNAcylation in neonatal cardiac myocytes.Implications of mitochondrial dynamics on neurodegeneration and on hypothalamic dysfunction.A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicingEmerging functions of mammalian mitochondrial fusion and fission.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathyIdentification of two novel OPA1 mutations in Chinese families with autosomal dominant optic atrophy.Inherited mitochondrial optic neuropathies.Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.The power of yeast to model diseases of the powerhouse of the cell.Mitochondrial fusion proteins and human diseases.Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics.Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.Dysfunctional Mitochondrial Dynamics in the Pathophysiology of Neurodegenerative Diseases.Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy.The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Multiethnic involvement in autosomal-dominant optic atrophy in Singapore.
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
eOPA1: an online database for OPA1 mutations.
@en
eOPA1: an online database for OPA1 mutations.
@nl
type
label
eOPA1: an online database for OPA1 mutations.
@en
eOPA1: an online database for OPA1 mutations.
@nl
prefLabel
eOPA1: an online database for OPA1 mutations.
@en
eOPA1: an online database for OPA1 mutations.
@nl
P2093
P2860
P356
P1433
P1476
eOPA1: an online database for OPA1 mutations.
@en
P2093
Patrizia Amati-Bonneau
Yves Malthièry
Yves Tourmen
P2860
P304
P356
10.1002/HUMU.20161
P577
2005-05-01T00:00:00Z