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Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Myoclonus in mitochondrial disorders.
- Published in:
- Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
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- Publication type:
- Article
Brain diffusion-weighted imaging in Friedreich's ataxia.
- Published in:
- Movement Disorders, 2011, v. 26, n. 4, p. 705, doi. 10.1002/mds.23518
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- Publication type:
- Article
Retinal Ganglion Cells and Circadian Rhythms in Alzheimer's Disease, Parkinson's Disease, and Beyond.
- Published in:
- Frontiers in Neurology, 2017, v. 8, p. 1, doi. 10.3389/fneur.2017.00162
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- Publication type:
- 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
Two more families supporting the existence of monogenic spinocerebellar ataxia 48.
- Published in:
- Neurogenetics, 2024, v. 25, n. 3, p. 277, doi. 10.1007/s10048-024-00758-8
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- Publication type:
- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
- By:
- Publication type:
- Article
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
- Published in:
- Neurogenetics, 2016, v. 17, n. 1, p. 65, doi. 10.1007/s10048-015-0465-x
- By:
- Publication type:
- Article
Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica).
- Published in:
- Molecular Biology & Evolution, 2022, v. 39, n. 6, p. 1, doi. 10.1093/molbev/msac113
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- Publication type:
- Article
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/ MT-ND4 Mutation Associated with Leber's Hereditary Optic Neuropathy.
- Published in:
- Molecules, 2022, v. 27, n. 4, p. 1341, doi. 10.3390/molecules27041341
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- Publication type:
- Article
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-30143-z
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- Publication type:
- Article
The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1322067
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- Publication type:
- Article
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1453, doi. 10.1093/hmg/ddt533
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- Publication type:
- Article
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1893, doi. 10.1093/hmg/ddr071
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- Publication type:
- Article
The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1019, doi. 10.1093/hmg/ddp566
- By:
- Publication type:
- Article
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 24, p. 4001, doi. 10.1093/hmg/ddn303
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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
The glutamate/cystine xCT antiporter antagonizes glutamine metabolism and reduces nutrient flexibility.
- Published in:
- Nature Communications, 2017, v. 8, n. 4, p. 15074, doi. 10.1038/ncomms15074
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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
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 573, p. 1, doi. 10.1126/scitranslmed.aaz7423
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- Publication type:
- Article
Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.
- Published in:
- Essays in Biochemistry, 2018, v. 62, n. 3, p. 235, doi. 10.1042/EBC20170097
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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
- By:
- Publication type:
- 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
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- letter
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Melanopsin retinal ganglion cell loss in Alzheimer disease.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA 1 missense mutations.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410
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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
Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phases.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2008, v. 246, n. 5, p. 641, doi. 10.1007/s00417-008-0767-x
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- Publication type:
- Article
A neurodegenerative perspective on mitochondrial optic neuropathies.
- Published in:
- Acta Neuropathologica, 2016, v. 132, n. 6, p. 789, doi. 10.1007/s00401-016-1625-2
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- Publication type:
- Article
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1200, doi. 10.1002/acn3.51329
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- Publication type:
- Article
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 704, doi. 10.1002/acn3.51259
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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
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 590, doi. 10.1002/acn3.51026
- By:
- Publication type:
- Article
Novel mutations in DNA2 associated with myopathy and mtDNA instability.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1893, doi. 10.1002/acn3.50888
- By:
- Publication type:
- Article
DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00090
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Retinal dysfunction characterizes subtypes of dominant optic atrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 2, p. e156, doi. 10.1111/aos.13557
- By:
- Publication type:
- Article
Keeping in Shape the Dogma of Mitochondrial DNA Maternal Inheritance.
- Published in:
- 2015
- By:
- Publication type:
- Opinion
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
- By:
- Publication type:
- Article
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
- By:
- 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