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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNA<sup>Lys</sup>.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00519-z
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- Publication type:
- Article
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
- Published in:
- 2016
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- Publication type:
- journal article
The relevance of migraine in the clinical spectrum of mitochondrial disorders.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08206-z
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- Publication type:
- Article
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00860
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- Publication type:
- Article
A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy.
- Published in:
- EMBO Molecular Medicine, 2023, v. 15, n. 7, p. 1, doi. 10.15252/emmm.202216951
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- Publication type:
- Article
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
- Published in:
- EMBO Molecular Medicine, 2015, v. 7, n. 6, p. 848, doi. 10.15252/emmm.201404399
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- Publication type:
- Article
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
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- Publication type:
- Article
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. e67, doi. 10.1093/brain/awad080
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- Publication type:
- Article
Randomized trial of bilateral gene therapy injection for m.11778G > A MT-ND4 Leber optic neuropathy.
- Published in:
- 2023
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- Publication type:
- journal article
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
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- Publication type:
- Letter
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
- Published in:
- 2016
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- Publication type:
- Letter
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
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- Publication type:
- commentary
Reply: Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
- Published in:
- 2016
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- Publication type:
- commentary
Mitochondrial DNA copy number differentiates the Leber's hereditary optic neuropathy affected individuals from the unaffected mutation carriers.
- Published in:
- 2016
- By:
- Publication type:
- commentary
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
- Published in:
- 2015
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- Publication type:
- journal article
'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
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- Publication type:
- Letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
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- Publication type:
- Letter to the Editor
Multimodal evaluation of the melanopsin retinal ganglion cells system in relation to circadian rhythms in Alzheimer's disease and aging.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.052286
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- Publication type:
- Article
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 15, p. 8792, doi. 10.3390/ijms23158792
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- Publication type:
- Article
Mitochondrial Retinopathies.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 1, p. 210, doi. 10.3390/ijms23010210
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- 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
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- Publication type:
- Case Study
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1429, doi. 10.1007/s00439-020-02187-7
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- Publication type:
- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Publication type:
- Article
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
- Published in:
- Cerebellum, 2017, v. 16, n. 1, p. 82, doi. 10.1007/s12311-016-0767-z
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- Publication type:
- Article
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
- Published in:
- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
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- Publication type:
- Article
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18040-y
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- Publication type:
- Article
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families.
- Published in:
- Cephalalgia, 2010, v. 30, n. 8, p. 919, doi. 10.1177/0333102409354654
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- Publication type:
- Article
Electrocochleography in Auditory Neuropathy Related to Mutations in the OTOF or OPA1 Gene.
- Published in:
- Audiology Research, 2021, v. 11, n. 4, p. 639, doi. 10.3390/audiolres11040059
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- Publication type:
- Article
A novel ALG14 missense variant in an alive child with myopathy, epilepsy, and progressive cerebral atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1918, doi. 10.1002/ajmg.a.62153
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- Publication type:
- Article
Interaction Between Mitochondrial DNA Variants and Mitochondria/Endoplasmic Reticulum Contact Sites: A Perspective Review.
- Published in:
- DNA & Cell Biology, 2020, v. 39, n. 8, p. 1431, doi. 10.1089/dna.2020.5614
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- Publication type:
- Article
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy.
- Published in:
- FEBS Journal, 2005, v. 272, n. 5, p. 1124, doi. 10.1111/j.1742-4658.2004.04542.x
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- Publication type:
- Article
Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy.
- Published in:
- Documenta Ophthalmologica, 2010, v. 121, n. 2, p. 147, doi. 10.1007/s10633-010-9241-2
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- Publication type:
- Article
Changes in Choroidal Thickness follow the RNFL Changes in Leber's Hereditary Optic Neuropathy.
- Published in:
- Scientific Reports, 2016, p. 37332, doi. 10.1038/srep37332
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- Publication type:
- Article
Therapeutic Options in Hereditary Optic Neuropathies.
- Published in:
- Drugs, 2021, v. 81, n. 1, p. 57, doi. 10.1007/s40265-020-01428-3
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- Publication type:
- Article
Editorial: Hereditary Optic Neuropathies: A New Perspective.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.742484
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- Publication type:
- Article
Exploiting hiPSCs in Leber's Hereditary Optic Neuropathy (LHON): Present Achievements and Future Perspectives.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.648916
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- Publication type:
- Article
Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.681326
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- Publication type:
- Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317
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- 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
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- Publication type:
- Article
Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127906
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- Publication type:
- Article
Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096692
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- Publication type:
- Article
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096663
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- Publication type:
- Article
A Novel Null Homozygous Mutation Confirms<i>CACNA2D2</i> as a Gene Mutated in Epileptic Encephalopathy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0082154
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- Publication type:
- Article
Secondary Post-Geniculate Involvement in Leber's Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0050230
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- Publication type:
- Article
Low Brain Intracellular Free Magnesium in Mitochondrial Cytopathies.
- Published in:
- Journal of Cerebral Blood Flow & Metabolism, 1999, v. 19, n. 5, p. 528, doi. 10.1097/00004647-199905000-00007
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- Publication type:
- Article
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber's Hereditary Optic Neuropathy.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 11, p. 6914, doi. 10.3390/ijerph19116914
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- Publication type:
- Article
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-116
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- Publication type:
- Article
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Apoptotic Cell Death of Cybrid Cells Bearing Leber's Hereditary Optic Neuropathy Mutations Is Caspase Independent.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1010, n. 1, p. 213, doi. 10.1196/annals.1299.037
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- Publication type:
- Article