Works matching DE "LEBER'S hereditary optic atrophy"
Results: 331
Mitochondrial DNA in osteoarthritis disease.
- Published in:
- 2020
- By:
- Publication type:
- Editorial
Recurrent optic neuropathy: a case of Harding's disease?
- Published in:
- Neurological Sciences, 2023, v. 44, n. 4, p. 1445, doi. 10.1007/s10072-022-06542-6
- By:
- Publication type:
- Article
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 12, p. 3653, doi. 10.1007/s10072-020-04422-5
- By:
- Publication type:
- Article
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Atypical Leber's hereditary optic neuropathy in a 10-year-old male: a case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A case of Leber hereditary optic neuropathy plus dystonia caused by G14459A mitochondrial mutation.
- Published in:
- 2013
- By:
- Publication type:
- Letter
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
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
- By:
- Publication type:
- Article
A Dual Genetic Alteration (Mitochondrial and Nuclear DNA): First Case in Malaysia Detected in Glioblastoma Multiforme.
- Published in:
- Malaysian Journal of Medicine & Health Sciences, 2020, v. 16, n. 2, p. 332
- 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
4,977‐bp human mitochondrial DNA deletion is associated with asthenozoospermic infertility in Jordan.
- Published in:
- Andrologia, 2020, v. 52, n. 1, p. N.PAG, doi. 10.1111/and.13379
- 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
Leber's Hereditary Optic Neuropathy-Not Just a Young Men's Disease.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
White matter changes in GM1 gangliosidosis.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 2, p. 155, doi. 10.1007/s13312-015-0593-2
- By:
- Publication type:
- Article
Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Correlation between Residual Sensitivity in the Central Inferior Nasal Visual Field and Visual Function in Chronic Leber Hereditary Optic Neuropathy Patients.
- Published in:
- Ophthalmic Research, 2024, v. 67, n. 1, p. 1, doi. 10.1159/000535537
- By:
- Publication type:
- Article
Visual Field Variability after Gene Therapy for Leber's Hereditary Optic Neuropathy.
- Published in:
- Ophthalmic Research, 2018, v. 60, n. 3, p. 176, doi. 10.1159/000487485
- By:
- Publication type:
- Article
Association Between L-OPA1 Cleavage and Cardiac Dysfunction During Ischemia-Reperfusion Injury in Rats.
- Published in:
- Cellular Physiology & Biochemistry (Cell Physiol Biochem Press GmbH & Co. KG), 2020, v. 54, n. 6, p. 1101, doi. 10.33594/000000303
- By:
- Publication type:
- Article
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest.
- Published in:
- Human Genetics, 2016, v. 135, n. 1, p. 121, doi. 10.1007/s00439-015-1615-9
- By:
- Publication type:
- Article
Mitochondrial Heteroplasmy as a Marker for Premature Coronary Artery Disease: Analysis of the Poly-C Tract of the Control Region Sequence.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2133, doi. 10.3390/jcm12062133
- By:
- Publication type:
- Article
Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 8, p. 2349, doi. 10.3390/jcm9082349
- By:
- Publication type:
- Article
A Single-Arm, Prospective, Exploratory Study to Preliminarily Test Effectiveness and Safety of Skin Electrical Stimulation for Leber Hereditary Optic Neuropathy.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 5, p. 1359, doi. 10.3390/jcm9051359
- By:
- Publication type:
- Article
Possible Role of Mitochondrial DNA Mutations in Chronification of Inflammation: Focus on Atherosclerosis.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 978, doi. 10.3390/jcm9040978
- By:
- Publication type:
- Article
Mitochondrial DNA Polymorphism in HV1 and HV2 Regions and 12S rDNA in Perimenopausal Hypertensive Women.
- Published in:
- Biomedicines, 2023, v. 11, n. 3, p. 823, doi. 10.3390/biomedicines11030823
- By:
- Publication type:
- Article
Activation of the Mitochondrial Unfolded Protein Response: A New Therapeutic Target?
- Published in:
- Biomedicines, 2022, v. 10, n. 7, p. N.PAG, doi. 10.3390/biomedicines10071611
- By:
- Publication type:
- Article
White Matter Changes in Two Leber's Hereditary Optic Neuropathy Pedigrees: 12-Year Follow-Up.
- Published in:
- Ophthalmologica, 2016, v. 235, n. 1, p. 49, doi. 10.1159/000441089
- By:
- Publication type:
- Article
The mitochondrial tRNA<sup>Ala</sup> 5587T>C and tRNA<sup>Leu(CUN)</sup> 12280A>G mutations may be associated with hypertension in a Chinese family.
- Published in:
- Experimental & Therapeutic Medicine, 2019, v. 17, n. 3, p. 1855
- By:
- Publication type:
- Article
Next-generation sequencing of the whole mitochondrial genome identifies novel and common variants in patients with psoriasis, type 2 diabetes mellitus and psoriasis with comorbid type 2 diabetes mellitus.
- Published in:
- Biomedical Reports, 2021, v. 14, n. 5, p. N.PAG, doi. 10.3892/br.2021.1417
- By:
- Publication type:
- Article
Evaluation of non-coding region sequence variants and mitochondrial haplogroups as potential biomarkers of sporadic breast cancer in individuals of Sri Lankan Sinhalese ethnicity.
- Published in:
- Biomedical Reports, 2020, v. 12, n. 6, p. 339, doi. 10.3892/br.2020.1292
- By:
- Publication type:
- Article
Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis.
- Published in:
- Biomedical Reports, 2019, v. 11, n. 6, p. 257, doi. 10.3892/br.2019.1250
- By:
- Publication type:
- Article
Mutation analysis of Leber's hereditary optic neuropathy using a multi-gene panel.
- Published in:
- Biomedical Reports, 2018, v. 8, n. 1, p. 51, doi. 10.3892/br.2017.1014
- By:
- Publication type:
- Article
Mitochondrial genome-wide association study of migraine - the HUNT Study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Japanese Case of Leber's Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant.
- Published in:
- Neuro-Ophthalmology, 2024, v. 48, n. 1, p. 51, doi. 10.1080/01658107.2023.2273480
- By:
- Publication type:
- Article
Neuro-Ophthalmic Literature Review.
- Published in:
- Neuro-Ophthalmology, 2023, v. 47, n. 4, p. 232, doi. 10.1080/01658107.2023.2216613
- By:
- Publication type:
- Article
Compressive Optic Neuropathy with a Concurrent Mutation of Leber's Hereditary Optic Neuropathy: A Case Report.
- Published in:
- Neuro-Ophthalmology, 2020, v. 44, n. 6, p. 387, doi. 10.1080/01658107.2019.1703197
- By:
- Publication type:
- Article
14th EUNOS Congress: PORTO, PORTUGAL, 16–19 JUNE 2019.
- Published in:
- Neuro-Ophthalmology, 2019, v. 43, p. 1, doi. 10.1080/01658107.2019.1608780
- Publication type:
- Article
Leber Hereditary Optic Neuropathy with Interval of Visual Loss Greater Than 12 Months.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Summary of the Neuro-Ophthalmology Symposium in the 31st Asia-Pacific Academy of Ophthalmology Congress (APAO 2016).
- Published in:
- 2016
- By:
- Publication type:
- Proceeding
Trauma-Associated Leber Hereditary Optic Neuropathy.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Optic Atrophy Secondary to Preseptal Cutaneous Anthrax: Case Report.
- Published in:
- Neuro-Ophthalmology, 2014, v. 38, n. 4, p. 220, doi. 10.3109/01658107.2013.874453
- By:
- Publication type:
- Article
Abstracts of the 2012 Meeting of the International Neuro-Ophthalmology Society, Singapore.
- Published in:
- 2012
- Publication type:
- Abstract
The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.
- Published in:
- Neurosciences, 2021, v. 26, n. 2, p. 128, doi. 10.17712/nsj.2021.2.20200145
- By:
- Publication type:
- Article
Neurocysticercosis (NCC) with Hydrocephalus, Optic Atrophy and Vision Loss: A Rare Presentation.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
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
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
Optimal Estimate for Energy Requirements in Adult Patients With the m.3243A>G Mutation in Mitochondrial DNA.
- Published in:
- JPEN Journal of Parenteral & Enteral Nutrition, 2021, v. 45, n. 1, p. 158, doi. 10.1002/jpen.1965
- 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
Genetically induced impairment of retinal ganglion cells at the axonal level is linked to extrastriate cortical plasticity.
- Published in:
- Brain Structure & Function, 2016, v. 221, n. 3, p. 1767, doi. 10.1007/s00429-015-1002-2
- By:
- Publication type:
- Article
'Successful' coiling of a giant ophthalmic aneurysm resulting in blindness: case report and critical review.
- Published in:
- 2013
- By:
- Publication type:
- Report