Works matching DE "LEBER'S hereditary optic atrophy"
Results: 331
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
- By:
- Publication type:
- Article
Bilateral vision loss due to Leber’s hereditary optic neuropathy after long-term alcohol, nicotine and drug abuse.
- Published in:
- 2018
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Non-glaucomatous Optic Disc Cupping: A Brief Review.
- Published in:
- Caspian Journal of Neurological Sciences, 2023, v. 9, n. 3, p. 184, doi. 10.32598/CJNS.9.34.417.1
- By:
- Publication type:
- Article
Mitochondrial DNA copy number is not associated with fatigue status in Primary Sjögren's Syndrome.
- Published in:
- Fatigue: Biomedicine, Health & Behavior, 2018, v. 6, n. 3, p. 123, doi. 10.1080/21641846.2018.1486799
- By:
- 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
- By:
- Publication type:
- Article
Factors Influencing Central Nervous System Abnormalities in m.11778G>A Carriers.
- Published in:
- 2020
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Mitochondrial DNA in osteoarthritis disease.
- Published in:
- 2020
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis.
- Published in:
- 2023
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Leber hereditary optic neuropathy: current perspectives.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 1165, doi. 10.2147/OPTH.S62021
- By:
- 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
- By:
- Publication type:
- Article
Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Incontinentia Pigmenti: A Newborn with Characteristic Skin Lesions and Bilateral Optic Atrophy: Case Report and Review of Literature.
- Published in:
- Acta Medica Iranica, 2013, v. 51, n. 11, p. 805
- By:
- Publication type:
- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal 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
Mitochondrial complex IV mutation increases reactive oxygen species production and reduces lifespan in aged mice.
- Published in:
- Acta Physiologica, 2019, v. 225, n. 4, p. N.PAG, doi. 10.1111/apha.13214
- By:
- Publication type:
- Article
Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 1, p. 158, doi. 10.1002/ana.25942
- By:
- Publication type:
- Article
A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
- Published in:
- 2020
- By:
- Publication type:
- journal article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Published in:
- 2020
- By:
- Publication type:
- journal article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
- By:
- Publication type:
- journal article
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mitochondrial DNA Deletions Discriminate Affected from Unaffected LRRK2 Mutation Carriers.
- Published in:
- 2019
- By:
- Publication type:
- Letter