Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2009

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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Genotype–phenotype correlations in mitochondrial optic neuropathies

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P1476

Genotype–phenotype correlations in mitochondrial optic neuropathies

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P2093

Alfredo A Sadun

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Divya Aggarwal

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Valerio Carelli

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P2860

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

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

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

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

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Linezolid-induced optic neuropathy: a mitochondrial disorder?

P304

429-443

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P31

scholarly article

P356

10.1586/EOP.09.32

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P433

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P478

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P577

2009-08-01T00:00:00Z

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P921

mitochondrion