Found: 23
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Dominant optic atrophy.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Reply: The expanding neurological phenotype of DNM1L-related disorders.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission.
- Published in:
- 2017
- By:
- Publication type:
- journal article
ER-mitochondria cross-talk is regulated by the Ca<sup>2+</sup> sensor NCS1 and is impaired in Wolfram syndrome.
- Published in:
- Science Signaling, 2018, v. 11, n. 553, p. 1, doi. 10.1126/scisignal.aaq1380
- By:
- Publication type:
- Article
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 207, doi. 10.1038/79936
- By:
- Publication type:
- Article
Identification of Preferentially Expressed mRNAs in Retina and Cochlea.
- Published in:
- DNA & Cell Biology, 2002, v. 21, n. 11, p. 781, doi. 10.1089/104454902320908432
- By:
- Publication type:
- Article
Defective Endoplasmic Reticulum–Mitochondria Connection Is a Hallmark of Wolfram Syndrome.
- Published in:
- Contact (25152564), 2019, v. 2, p. N.PAG, doi. 10.1177/2515256419847407
- By:
- Publication type:
- Article
Defective Endoplasmic Reticulum-Mitochondria Connection Is a Hallmark of Wolfram Syndrome.
- Published in:
- Contact (25152564), 2019, v. 2, p. 1, doi. 10.1177/2515256419847407
- By:
- Publication type:
- Article
Impairment of Visual Function and Retinal ER Stress Activation in <i>Wfs1</i>-Deficient Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097222
- By:
- Publication type:
- Article
What similarity between human and fission yeast proteins is required for orthology?
- Published in:
- 2002
- By:
- Publication type:
- Other
Correction to: The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
- By:
- Publication type:
- Article
Mutation spectrum and splicing variants in the OPA1 gene.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 584, doi. 10.1007/s00439-001-0633-y
- By:
- Publication type:
- Article
Inherited mitochondrial dysfunction triggered by OPA1 mutation impacts the sensory innervation fibre identity, functionality and regenerative potential in the cornea.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-68994-4
- By:
- Publication type:
- Article
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3599, doi. 10.1093/brain/aws303
- By:
- Publication type:
- Article
Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
- Published in:
- BMC Genetics, 2003, v. 4, p. 1
- By:
- Publication type:
- Article
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1572, doi. 10.1002/acn3.50860
- By:
- Publication type:
- Article
Reversible optic neuropathy with OPA1 exon 5b mutation.
- Published in:
- Annals of Neurology, 2008, v. 63, n. 5, p. 667, doi. 10.1002/ana.21376
- By:
- Publication type:
- Article
Wolfram syndrome: MAMs’ connection?
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 3, p. 1, doi. 10.1038/s41419-018-0406-3
- By:
- Publication type:
- Article
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: Relevance to ADOA pathogenesis.
- Published in:
- Journal of Cellular Physiology, 2007, v. 211, n. 2, p. 423, doi. 10.1002/jcp.20950
- By:
- Publication type:
- Article
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
- Published in:
- FEBS Letters, 2002, v. 523, n. 1-3, p. 171, doi. 10.1016/S0014-5793(02)02985-X
- By:
- Publication type:
- Article
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy(Communicated by Arnold Munnich)Online Citation: Human Mutation, Mutation in Brief #623 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/623.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 6, p. 656, doi. 10.1002/humu.9152
- By:
- Publication type:
- Article
A gene recently inactivated in human defines a new olfactory receptor family in mammals.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 9, p. 1337, doi. 10.1093/hmg/7.9.1337
- By:
- Publication type:
- Article