A neurodegenerative perspective on mitochondrial optic neuropathies - Test2 - elhamkhani - TriplyDB

A neurodegenerative perspective on mitochondrial optic neuropathies

A neurodegenerative perspective on mitochondrial optic neuropathies

http://www.wikidata.org/entity/Q28072026

about

Retinal Ganglion Cells and Circadian Rhythms in Alzheimer's Disease, Parkinson's Disease, and Beyond Genetic Counselling for Maternally Inherited Mitochondrial Disorders.The Retina in Multiple System Atrophy: Systematic Review and Meta-Analysis.Leber hereditary optic neuropathy: bridging the translational gap.Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.Human iPSC disease modelling reveals functional and structural defects in retinal pigment epithelial cells harbouring the m.3243A > G mitochondrial DNA mutation.Eyeing the brain.Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules.Optic neuropathies: the tip of the neurodegeneration iceberg.Mitochondrial pathophysiology beyond the retinal ganglion cell: occipital GABA is decreased in autosomal dominant optic neuropathy Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies

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A neurodegenerative perspective on mitochondrial optic neuropathies

http://www.wikidata.org/entity/Q28072026

description

2016 nî lūn-bûn

@nan

2016 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2016 թվականի դեկտեմբերին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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name

A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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type

label

A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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A neurodegenerative perspective on mitochondrial optic neuropathies

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Acta Neuropathologica

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A neurodegenerative perspective on mitochondrial optic neuropathies

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Chiara La Morgia

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Florence Burté

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Marcela Votruba

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Piero Barboni

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Valerio Carelli

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Creative Commons Attribution 4.0 International

P2860

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein

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

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

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

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

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789-806

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scholarly article

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10.1007/S00401-016-1625-2

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6

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Patrick Yu-Wai-Man

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1007390911

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Leber hereditary optic neuropathy

neurodegeneration

Kjer's optic neuropathy

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5106504

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