Works matching Leber's hereditary optic atrophy
Results: 363
Terapia genética de injeção intravítrea de rAAV2-ND4 para neuropatia óptica hereditária de Leber: uma revisão sistemática.
- Published in:
- Revista Brasileira de Oftalmologia, 2023, v. 82, p. 1, doi. 10.37039/1982.8551.20230041
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- Publication type:
- Article
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
- Published in:
- 2021
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- Publication type:
- journal article
A case for the use of chemotherapy in hereditary mitochondrial optic neuropathies: Successful administration of cisplatin/etoposide in a male patient with testicular seminoma and Leber's hereditary optic neuropathy.
- Published in:
- 2024
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- Publication type:
- Case Study
Optical Coherence Tomography of the Retinal Ganglion Cell Complex in Leber's Hereditary Optic Neuropathy and Dominant Optic Atrophy.
- Published in:
- Current Eye Research, 2019, v. 44, n. 6, p. 638, doi. 10.1080/02713683.2019.1567792
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- Publication type:
- Article
Vzácná příčina slepoty u pacienta s nosní polypózou Leberova hereditární neuropatie zrakového nervu.
- Published in:
- Otorhinolaryngology & Phoniatrics / Otorinolaryngologie a Foniatrie, 2011, v. 60, n. 3, p. 169
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- Publication type:
- Article
Medical management of hereditary optic neuropathies.
- Published in:
- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00141
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- Publication type:
- Article
Identification of the characteristic visual field loss patterns in optic neuropathies.
- Published in:
- 2024
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- Publication type:
- Abstract
Herediter Optik Nöropatiler.
- Published in:
- Current Retina Journal / Güncel Retina Dergisi, 2025, v. 9, n. 1, p. 81, doi. 10.37783/CRJ-0440
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- Publication type:
- Article
Demielinizacyjna czy dziedziczna neuropatia nerwu wzrokowego? Porównanie wybranych jednostek chorobowych.
- Published in:
- Current Neurology / Aktualno?ci Neurologiczne, 2020, v. 20, n. 2, p. 82, doi. 10.15557/AN.2020.0011
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- Publication type:
- Article
Opa1 and MT-Nd6 mutations induce early mitochondrial changes in the retina and prelaminar optic nerve of hereditary optic neuropathy mouse models.
- Published in:
- Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae404
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- Publication type:
- Article
Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01768-1
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- Publication type:
- Article
Treatment paradigms for mitochondrial optic neuropathies.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8043
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- Publication type:
- Article
Functional MRI study in a case of Charles Bonnet syndrome related to LHON.
- Published in:
- 2019
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- Publication type:
- journal article
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.
- Published in:
- Documenta Ophthalmologica, 2024, v. 148, n. 3, p. 133, doi. 10.1007/s10633-024-09968-9
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- Publication type:
- Article
Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse.
- Published in:
- 2018
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- Publication type:
- Case Study
Peripapillary hyperreflective ovoid mass-like structures (PHOMS) in patients with acute Leber's hereditary optic neuropathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 1, p. 261, doi. 10.1007/s00417-023-06205-y
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- Publication type:
- Article
Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber's hereditary optic neuropathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2020, v. 258, n. 10, p. 2283, doi. 10.1007/s00417-020-04757-x
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- Publication type:
- Article
Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 5, p. 1019, doi. 10.1007/s00417-019-04267-5
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- Publication type:
- Article
Before an abducens palsy can be attributed to a congenital vitamin-B12 deficiency, alternative causes must be ruled out.
- Published in:
- Child's Nervous System, 2023, v. 39, n. 9, p. 2269, doi. 10.1007/s00381-023-06079-9
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- Publication type:
- Article
Maternally Inherited Diabetes and Deafness (MIDD) – Atypical Clinical Diabetes Features Leading to the Diagnosis.
- Published in:
- JCEM Case Reports, 2023, v. 1, n. 3, p. 1, doi. 10.1210/jcemcr/luad047
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- Publication type:
- Article
Mitochondrial DNA copy number is not associated with fatigue status in Primary Sjögren's Syndrome.
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- Fatigue: Biomedicine, Health & Behavior, 2018, v. 6, n. 3, p. 123, doi. 10.1080/21641846.2018.1486799
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- Publication type:
- Article
Widespread Reductions of Spontaneous Neurophysiological Activity in Leber's Disease—An Application of EEG Source Current Density Reconstruction.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 9, p. 622, doi. 10.3390/brainsci10090622
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- Publication type:
- Article
Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.
- Published in:
- 2020
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- Publication type:
- Letter
Mitochondrial genome-wide association study of migraine - the HUNT Study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.
- Published in:
- Frontiers in Psychiatry, 2022, v. 13, p. 1, doi. 10.3389/fpsyt.2022.864445
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- Publication type:
- Article
Assessment of the Idebenone Effect on LHON Eyes Requires High-quality Studies.
- Published in:
- Current Eye Research, 2020, v. 45, n. 11, p. 1451, doi. 10.1080/02713683.2020.1748660
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- Publication type:
- Article
Anticancer effect of a pyrrole‐imidazole polyamide‐triphenylphosphonium conjugate selectively targeting a common mitochondrial DNA cancer risk variant in cervical cancer cells.
- Published in:
- International Journal of Cancer, 2023, v. 152, n. 5, p. 962, doi. 10.1002/ijc.34319
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- Publication type:
- Article
Leigh syndrome: a case report with a mitochondrial DNA mutation.
- Published in:
- Revista Paulista de Pediatria, 2019, v. 37, n. 1, p. 136
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- Publication type:
- Article
Clinical and molecular findings in eight Egyptian patients with suspected mitochondrial disorders and optic atrophy.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 1, p. 37, doi. 10.1016/j.ejmhg.2012.08.002
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- Publication type:
- Article
Bioenergetics and Autophagic Imbalance in Patients-Derived Cell Models of Parkinson Disease Supports Systemic Dysfunction in Neurodegeneration.
- Published in:
- Frontiers in Neuroscience, 2019, p. 1, doi. 10.3389/fnins.2019.00894
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- Publication type:
- Article
Correlation of Average Retinal Nerve Fiber Layer Thickness Using OCT with The Perimetric Staging in Primary Open Angle Glaucoma.
- Published in:
- Egyptian Journal of Hospital Medicine, 2018, v. 71, n. 3, p. 2770, doi. 10.12816/0045842
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- Publication type:
- Article
A Model of Hereditary Sensory and Autonomic Neuropathy Type 1 Reveals a Role of Glycosphingolipids in Neuronal Polarity.
- Published in:
- Journal of Neuroscience, 2019, v. 39, n. 29, p. 5816, doi. 10.1523/jneurosci.2541-18.2019
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- Publication type:
- Article
Authors' response.
- Published in:
- Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 430, doi. 10.4103/0971-5916.305172
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- Publication type:
- Article
Unmasking fibromyalgia as a mitochondrial disorder requires search for more than a single variant or single mtDNA deletions.
- Published in:
- Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 429, doi. 10.4103/ijmr.IJMR_1039_19
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- Publication type:
- Article
Textbook of microbiology: An integrated and clinical case based approach.
- Published in:
- Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 437, doi. 10.4103/ijmr.IJMR_1337_19
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- Publication type:
- Article
Obituary.
- Published in:
- Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 434, doi. 10.4103/ijmr.IJMR_4320_20
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- Publication type:
- Article
Mitochondrial DNA in osteoarthritis disease.
- Published in:
- 2020
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- Publication type:
- Editorial
Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber's hereditary optic neuropathy.
- Published in:
- Biochemistry (00062979), 2016, v. 81, n. 7, p. 748, doi. 10.1134/S0006297916070117
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- Publication type:
- Article
Mitochondrial DNA mutations and the risk for aminoglycoside-induced deafness.
- Published in:
- Macedonian Pharmaceutical Bulletin / Makedonsko Farmacevtski Bilten, 2022, v. 68, p. 411, doi. 10.33320/maced.pharm.bull.2022.68.03.198
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- Publication type:
- Article
Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 825, doi. 10.1002/acn3.51327
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- Publication type:
- Article
Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 247, doi. 10.1002/acn3.51232
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- Publication type:
- Article
Mutation spectrum of Charcot‐Marie‐Tooth disease among the Han Chinese in Taiwan.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1090, doi. 10.1002/acn3.50797
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- Publication type:
- Article
A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 2, p. 401, doi. 10.1002/acn3.701
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- Publication type:
- Article
Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 6, p. 408, doi. 10.1002/acn3.305
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- Publication type:
- Article
Mitochondrial DNA Mutation Analysis in Breast Cancer: Shifting From Germline Heteroplasmy Toward Homoplasmy in Tumors.
- Published in:
- Frontiers in Oncology, 2020, v. 11, p. N.PAG, doi. 10.3389/fonc.2020.572954
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- Publication type:
- Article
Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.
- Published in:
- 2023
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- Publication type:
- Case Study
Photobiomodulation Using Light-Emitting Diode (LED) for Treatment of Retinal Diseases.
- Published in:
- Clinical Ophthalmology, 2024, v. 18, p. 215, doi. 10.2147/OPTH.S441962
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- Publication type:
- Article
Leber's hereditary optic neuropathy is multiorgan not mono-organ.
- Published in:
- Clinical Ophthalmology, 2016, v. 10, p. 2187, doi. 10.2147/OPTH.S120197
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- Publication type:
- Article
Leber hereditary optic neuropathy: current perspectives.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 1165, doi. 10.2147/OPTH.S62021
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- Publication type:
- Article
Pathogenic Heteroplasmic Somatic Mitochondrial DNA Mutation Confers Platinum-Resistance and Recurrence of High-Grade Serous Ovarian Cancer.
- Published in:
- Cancer Management & Research, 2020, v. 12, p. 11085, doi. 10.2147/CMAR.S277724
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- Publication type:
- Article