Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies - Wikidata - awgldk - TriplyDB

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

http://www.wikidata.org/entity/Q34605409

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Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy Mitochondrial dynamics: the intersection of form and function.Disturbed mitochondrial dynamics and neurodegenerative disorders.Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications.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.The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation.Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy Physiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.OPA1 analysis in an international series of probands with bilateral optic atrophy.Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.Abstracts of the 2012 Meeting of the International Neuro-Ophthalmology Society, Singapore Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for

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Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies

http://www.wikidata.org/entity/Q34605409

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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prefLabel

Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Genetic screening for OPA1 and ...... d inherited optic neuropathies

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Bradford Coffee

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Lora J H Bean

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Madhuri Hegde

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Nancy J Newman

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Suma P Shankar

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Valérie Biousse

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Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

The epidemiology of Leber hereditary optic neuropathy in the North East of England

Multi-system neurological disease is common in patients with OPA1 mutations

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma.

A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia.

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