Results 221 to 230 of about 22,170 (231)
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OPA1‐related sensorineural hearing loss
Acta Ophthalmologica, 2012AbstractPurpose The OPA1 gene, encoding a dynamin‐like mitochondrial GTPase, is responsible for autosomal dominant optic atrophy (ADOA, OMIM #165500), which can be associated with extra‐ocular abnormalities including sensorineural deafness.The purpose of this study is to determine, in a large series of patients carrying OPA1 mutations, the prevalence ...
S LERUEZ +11 more
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M - 16 Atrophie optique et atteinte neurologique avec mutation OPA1 : un nouveau phénotype OPA1 plus
Revue Neurologique, 2007Introduction Les atrophies optiques d’origine genetique sont parfois associees a des signes neurologiques centraux comme cela est decrit pour la maladie de Leber. Observations Patient ne en 1963 (dossier 060370), sans antecedent personnel ni familial. Il presenta en 2004 une baisse d’acuite visuelle bilaterale d’installation progressive rapidement
C. Scherer +6 more
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Mitochondrial disorder with OPA1 mutation lacking optic atrophy
Mitochondrion, 2009OPA1 is highly expressed in retina and optic nerve. OPA1 mutations were first identified in patients with non-syndromic autosomal dominant optic atrophy. Recently, OPA1 mutations were detected in a multisystemic disorder which has optic atrophy as the core clinical feature and multiple mitochondrial DNA (mtDNA) deletions in muscle.
Margherita, Milone +4 more
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OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS
Neurology, 2008Disorders of mitochondrial DNA (mtDNA) maintenance are a major cause of sporadic and inherited neurologic disease,1 but the underlying nuclear gene defects have yet to be identified in many patients. Following the recent description of multiple mtDNA deletions in seven families with mutations in OPA1 ,2–4 we determined the frequency of OPA1 mutations ...
Stewart, J.D. +11 more
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OPA1 and Its Clinical Implications
2009Autosomal dominant optic atrophy (ADOA) or Kjer disease (MIM #165500) is a primary inherited nonsyndromic optic neuropathy that results in loss of retinal ganglion cells, leading to the clinical appearance of optic atrophy. It is caused by mutations in optic atrophy 1 (OPA1), a dynamin-related protein of the inner mitochondrial membrane.
TREVISSON, EVA +2 more
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Focus on Molecules: The OPA1 protein
Experimental Eye Research, 2006Vanessa, Davies, Marcela, Votruba
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A Novel Mutation of the Type 1 Optic Atrophy (OPA1) Gene in a Japanese Family with OPA1
Japanese Journal of Ophthalmology, 2003Purpose : To report a novel mutation of the typel optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. Methods : Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations.
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Leigh-like syndrome due to OPA1 mutations
European Journal of Paediatric Neurology, 2017Josef, Finsterer, Sinda, Zarrouk-Mahjoub
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MICOS und OPA1: Architekten mitochondrialer Membransysteme
Due to their evolutionary descent from α-proteobacteria, mitochondria are encased in two membranes. The inner mitochondrial membrane can in turn be subdivided into the inner boundary membrane and the cristae membranes that protrude into the matrix, which are connected to each other at the so-called crista junctions. The cristae formed by this structure,openaire +1 more source
Novel phenotype associated with OPA1 mutations?
Mitochondrion, 2012Markéta Tesařová +14 more
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