Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome ; volume:11 ; number:8 ; year:2019 ; extent:18
EMBO molecular medicine / European Molecular Biology Organization ; 11, Heft 8 (2019) (gesamt 18)

Creator: Bertacchi, Michele
Gruart, Agnès
Kaimakis, Polynikis
Allet, Cécile
Serra, Linda
Giacobini, Paolo
Delgado‐García, José M.
Bovolenta, Paola
Studer, Michèle

DOI: 10.15252/emmm.201910291

URN: urn:nbn:de:101:1-2022080307154612344669

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:21 AM CEST

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Associated

Bertacchi, Michele
Gruart, Agnès
Kaimakis, Polynikis
Allet, Cécile
Serra, Linda
Giacobini, Paolo
Delgado‐García, José M.
Bovolenta, Paola
Studer, Michèle

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Hochschulschrift

Generation and analysis of OPA1 (optic atrophy 1) deficient mice

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

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Hochschulschrift

Molecular characterization of optic atrophy protein OPA1

Orphan disease: Cherubism, optic atrophy, and short stature

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Quantitative evaluation of intraorbital optic nerve in optic atrophy using diffusion tensor imaging

Hochschulschrift

Generation and analysis of OPA1 (optic atrophy 1) deficient mice

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

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Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

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Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

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Other Objects (12)

Dominant optic atrophy

Molecular characterization of optic atrophy protein OPA1

Orphan disease: Cherubism, optic atrophy, and short stature

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Quantitative evaluation of intraorbital optic nerve in optic atrophy using diffusion tensor imaging

Generation and analysis of OPA1 (optic atrophy 1) deficient mice

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

Dominant optic atrophy

Molecular characterization of optic atrophy protein OPA1

Orphan disease: Cherubism, optic atrophy, and short stature

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Quantitative evaluation of intraorbital optic nerve in optic atrophy using diffusion tensor imaging

Generation and analysis of OPA1 (optic atrophy 1) deficient mice

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

Dominant optic atrophy

Molecular characterization of optic atrophy protein OPA1

Orphan disease: Cherubism, optic atrophy, and short stature

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy

Quantitative evaluation of intraorbital optic nerve in optic atrophy using diffusion tensor imaging

Generation and analysis of OPA1 (optic atrophy 1) deficient mice

Optic atrophy and auditory synaptopathy as syndromal disease – a case report

Acute visual loss and optic disc edema followed by optic atrophy in two cases with deeply buried optic disc drusen: a mimicker of atypical optic neuritis

Dominant optic atrophy, OPA1, and mitochondrial quality control: understanding mitochondrial network dynamics

Genomic deletions in OPA1 in Danish patients with autosomal dominant optic atrophy

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

A pathological indicator for dysthyroid optic neuropathy: tritan color vision deficiency

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