Visual system involvement in patients with Friedreich's ataxia. - Wikidata - wikimedia - TriplyDB

Visual system involvement in patients with Friedreich's ataxia.

Visual system involvement in patients with Friedreich's ataxia.

http://www.wikidata.org/entity/Q33377900

about

A neurodegenerative perspective on mitochondrial optic neuropathies Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes Optical coherence tomography (OCT): imaging the visual pathway as a model for neurodegeneration.Low-level light therapy of the eye and brain Mitochondrial disorders and the eye.Medical management of hereditary optic neuropathies.Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1 Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Microarray analysis of murine retinal light damage reveals changes in iron regulatory, complement, and antioxidant genes in the neurosensory retina and isolated RPE.Neurodegeneration with brain iron accumulation: a diagnostic algorithm.The optic nerve: a "mito-window" on mitochondrial neurodegeneration The neuro-ophthalmology of mitochondrial disease Secondary post-geniculate involvement in Leber's hereditary optic neuropathy Ophthalmic features of Friedreich ataxia.Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.Clinical features of Friedreich ataxia.Unanswered questions in Friedreich ataxia.Optical coherence tomography findings in spinocerebellar ataxia-3.Otoneurological Abnormalities in Patients with Friedreich's Ataxia.Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Treatment of hereditary optic neuropathies.Genetic and phenotypic variability of optic neuropathies.Clinical features of Friedreich's ataxia: classical and atypical phenotypes.Ophthalmic manifestations of inherited neurodegenerative disorders.On the somatosensation of vision Targeting mitochondrial function to protect against vision loss.Friedreich Ataxia: current status and future prospects.Characterization of the retinal pigment epithelium in Friedreich ataxia.Analysis of the visual system in Friedreich ataxia.Friedreich ataxia-induced pluripotent stem cell-derived neurons show a cellular phenotype that is corrected by a benzamide HDAC inhibitor.Inducible and reversible phenotypes in a novel mouse model of Friedreich's Ataxia.Friedreich's ataxia: clinical features, pathogenesis and management.Cerebello-cerebral connectivity deficits in Friedreich ataxia.Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.Optic neuropathies: the tip of the neurodegeneration iceberg.Corneal sensitivity and tear function in neurodegenerative diseases.[Memantine for optic nerve atrophy in Friedreich's Ataxia].Idebenone in Friedreich ataxia and Leber's hereditary optic neuropathy: close mechanisms, similar therapy?Brain diffusion-weighted imaging in Friedreich's ataxia Longitudinal analysis of contrast acuity in Friedreich ataxia

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Visual system involvement in patients with Friedreich's ataxia.

http://www.wikidata.org/entity/Q33377900

description

2008 nî lūn-bûn

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2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2008 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

@zh-hk

2008年論文

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2008年論文

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2008年论文

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name

Visual system involvement in patients with Friedreich's ataxia.

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Visual system involvement in patients with Friedreich's ataxia.

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type

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Visual system involvement in patients with Friedreich's ataxia.

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Visual system involvement in patients with Friedreich's ataxia.

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Visual system involvement in patients with Friedreich's ataxia.

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Visual system involvement in patients with Friedreich's ataxia.

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Visual system involvement in patients with Friedreich's ataxia.

@en

P2093

Alfredo A Sadun

http://www.w3.org/2001/XMLSchema#string

Caterina Mariotti

http://www.w3.org/2001/XMLSchema#string

Filippo Fortuna

http://www.w3.org/2001/XMLSchema#string

Piero Barboni

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P2860

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

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

Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin

Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue

Mitochondrial dysfunction as a cause of optic neuropathies

Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

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116-123

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scholarly article

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10.1093/BRAIN/AWN269

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P407

P433

Pt 1

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132

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Maria Lucia Valentino

Valerio Carelli

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2008-10-18T00:00:00Z

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23394995

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18931386

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