Found: 90
Select item for more details and to access through your institution.
metabolic profiling of Parkinson's disease and mild cognitive impairment.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Angiopoietins in Diabetic Retinopathy: Current Understanding and Therapeutic Potential.
- Published in:
- Journal of Diabetes Research, 2019, p. 1, doi. 10.1155/2019/5140521
- By:
- Publication type:
- Article
High‐throughput screening identifies suppressors of mitochondrial fragmentation in OPA1 fibroblasts.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 6, p. 1, doi. 10.15252/emmm.202013579
- By:
- Publication type:
- Article
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 1, p. 58, doi. 10.15252/emmm.201505496
- By:
- Publication type:
- Article
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0158-9
- By:
- Publication type:
- Article
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Randomized trial of bilateral gene therapy injection for m.11778G > A MT-ND4 Leber optic neuropathy.
- Published in:
- 2023
- By:
- Publication type:
- journal article
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- commentary
Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Exome sequencing in undiagnosed inherited and sporadic ataxias.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 2, p. 276, doi. 10.1093/brain/awu348
- By:
- Publication type:
- Article
Reply: 'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e310, doi. 10.1093/brain/awu228
- By:
- Publication type:
- Article
Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e312, doi. 10.1093/brain/awu267
- By:
- Publication type:
- Article
Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 12, p. e314, doi. 10.1093/brain/awu300
- By:
- Publication type:
- Article
Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1292320
- By:
- Publication type:
- Article
Neuropathie optique héréditaire de Leber: Amélioration bilatérale de la vision après thérapie génique par injection unilatérale.
- Published in:
- Médecine Sciences, 2021, v. 37, n. 8/9, p. 712, doi. 10.1051/medsci/2021099
- By:
- Publication type:
- Article
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population.
- Published in:
- Documenta Ophthalmologica, 2023, v. 147, n. 3, p. 165, doi. 10.1007/s10633-023-09956-5
- By:
- Publication type:
- Article
Genetic variations within the OPA1 gene are not associated with neuromyelitis optica.
- Published in:
- Multiple Sclerosis Journal, 2012, v. 18, n. 2, p. 240, doi. 10.1177/1352458511416838
- By:
- Publication type:
- Article
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.662838
- By:
- Publication type:
- Article
Retinal Ganglion Cells—Diversity of Cell Types and Clinical Relevance.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.661938
- By:
- Publication type:
- Article
Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075048
- By:
- Publication type:
- Article
Raised Intraocular Pressure as a Potential Risk Factor for Visual Loss in Leber Hereditary Optic Neuropathy
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063446
- By:
- Publication type:
- Article
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
- Published in:
- Current Neurology & Neuroscience Reports, 2022, v. 22, n. 12, p. 881, doi. 10.1007/s11910-022-01246-y
- By:
- Publication type:
- Article
Disorders of the Optic Nerve in Mitochondrial Cytopathies: New Ideas on Pathogenesis and Therapeutic Targets.
- Published in:
- Current Neurology & Neuroscience Reports, 2012, v. 12, n. 3, p. 308, doi. 10.1007/s11910-012-0260-0
- By:
- Publication type:
- Article
Vertigo and vestibular abnormalities in spinocerebellar ataxia type 6.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 1, p. 78, doi. 10.1007/s00415-009-0068-2
- By:
- Publication type:
- Article
Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy.
- Published in:
- JAMA Neurology, 2013, v. 70, n. 12, p. 1552, doi. 10.1001/jamaneurol.2013.4111
- By:
- Publication type:
- Article
Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. e302, doi. 10.1093/brain/awu187
- By:
- Publication type:
- Article
A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 8, p. 2329, doi. 10.1093/brain/awu138
- By:
- Publication type:
- Article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 335, doi. 10.1093/brain/awt343
- By:
- Publication type:
- Article
Reply: Sensorineural hearing loss in OPA1-linked disorders.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e237, doi. 10.1093/brain/aws341
- By:
- Publication type:
- Article
MFN2 mutations cause compensatory mitochondrial DNA proliferation.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e219, doi. 10.1093/brain/aws049
- By:
- Publication type:
- Article
Dysfunctional mitochondrial maintenance: what breaks the circle of life?
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 9, doi. 10.1093/brain/awr352
- By:
- Publication type:
- Article
Reply: Spastic paraplegia in ‘dominant optic atrophy plus’ phenotype due to OPA1 mutation.
- Published in:
- 2011
- By:
- Publication type:
- Letter
A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2677, doi. 10.1093/brain/awr170
- By:
- Publication type:
- Article
A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Reply: Heterozygous OPA1 mutations in Behr syndrome.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 4, p. e170, doi. 10.1093/brain/awq307
- By:
- Publication type:
- Article
OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 4, p. e164, doi. 10.1093/brain/awq288
- By:
- Publication type:
- Article
Gene-environment interactions in Leber hereditary optic neuropathy.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Gene–environment interactions in Leber hereditary optic neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 9, p. 2317, doi. 10.1093/brain/awp158
- By:
- Publication type:
- Article
A multiple sclerosis-like disorder in patients with OPA1 mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 9, p. 723, doi. 10.1002/acn3.323
- By:
- Publication type:
- Article
Leber hereditary optic neuropathy – Therapeutic challenges and early promise
- Published in:
- Taiwan Journal of Ophthalmology, 2011, v. 1, n. 1, p. 12, doi. 10.1016/j.tjo.2011.09.001
- By:
- Publication type:
- Article
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late‐onset disorder of mitochondrial DNA maintenance.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 2, p. 276, doi. 10.1111/cge.13652
- By:
- Publication type:
- Article