Found: 101
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DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- Letter
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
- By:
- Publication type:
- Article
Epilepsy in coeliac disease: not just a matter of calcifications.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 6, p. 1069, doi. 10.1007/s10072-011-0629-x
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- Publication type:
- Article
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 4, p. 537, doi. 10.1007/s10072-011-0514-7
- By:
- Publication type:
- Article
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06150-6
- By:
- Publication type:
- Article
Perinatal Origins of Adult Disease and Opportunities for Health Promotion: A Narrative Review.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020157
- By:
- Publication type:
- Article
Idiopathic Intracranial Hypertension Without Papilledema (IIHWOP) in Chronic Refractory Headache.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00503
- By:
- 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
- By:
- 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
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
- Published in:
- 2016
- By:
- Publication type:
- commentary
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- 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
- By:
- Publication type:
- Article
Retinal imaging in Alzheimer's and neurodegenerative diseases.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 1, p. 103, doi. 10.1002/alz.12179
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- 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
Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1466275
- By:
- Publication type:
- Article
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007210
- By:
- Publication type:
- Article
Gastro-oesophageal reflux in infants: optimizing behavioural and pharmacological therapy.
- Published in:
- Paediatria Croatica, 2021, v. 65, n. 3, p. 118, doi. 10.13112/PC.2021.20
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber's Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042242
- 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
- By:
- 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
- By:
- 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
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
- By:
- Publication type:
- Article
Diagnostic Accuracy of Lung Ultrasound in Neonatal Diseases: A Systematized Review.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 11, p. 3107, doi. 10.3390/jcm13113107
- By:
- Publication type:
- Article
Effects of Light Treatment on Sleep, Cognition, Mood, and Behavior in Alzheimer's Disease: A Systematic Review.
- Published in:
- Dementia & Geriatric Cognitive Disorders, 2018, v. 46, n. 5/6, p. 371, doi. 10.1159/000494921
- By:
- Publication type:
- Article
"Build Your Village"—Conducting the Village Test on Cognitively Impaired Patients: A First Journey into Alzheimerland.
- Published in:
- Brain Sciences (2076-3425), 2024, v. 14, n. 6, p. 523, doi. 10.3390/brainsci14060523
- By:
- Publication type:
- Article
Chromatic Pupillometry Findings in Alzheimer's Disease.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00780
- By:
- Publication type:
- Article
Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
- Published in:
- Environmental Health Perspectives, 2007, v. 115, n. 1, p. 113, doi. 10.1289/ehp.9245
- By:
- Publication type:
- Article
Middle-aged Woman With Bilateral Macular Atrophy, Hearing Loss, and Headache.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61735-3
- By:
- Publication type:
- Article
Correction: Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer's disease.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Pupillometry evaluation of melanopsin retinal ganglion cell function and sleep-wake activity in pre-symptomatic Alzheimer's disease.
- Published in:
- PLoS ONE, 2019, v. 14, n. 12, p. 1, doi. 10.1371/journal.pone.0226197
- By:
- Publication type:
- Article
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1643, doi. 10.1093/brain/awu069
- By:
- Publication type:
- Article
Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e239, doi. 10.1093/brain/awt014
- By:
- Publication type:
- Article
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e231, doi. 10.1093/brain/aws280
- By:
- Publication type:
- Article
Idebenone Treatment In Leber's Hereditary Optic Neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. e188, doi. 10.1093/brain/awr180
- By:
- Publication type:
- Article
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2426, doi. 10.1093/brain/awq155
- By:
- Publication type:
- Article