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DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- letter
Mitochondrial DNA and primary mitochondrial dysfunction in Parkinson's disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Augmentation of restless legs syndrome with long-term tramadol treatment.
- Published in:
- Movement Disorders, 2007, v. 22, n. 3, p. 424, doi. 10.1002/mds.21342
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- 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
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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
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
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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
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
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- Publication type:
- 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
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Published in:
- 2020
- 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
P027. Idiopathic intracranial hypertension without papilledema in refractory chronic daily headache.
- Published in:
- 2015
- By:
- Publication type:
- Abstract
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
- By:
- 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
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
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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
Transverse Sinus Stenosis in Refractory Chronic Headache Patients: An Observational Study.
- Published in:
- Frontiers in Neurology, 2019, v. 10, p. 1, doi. 10.3389/fneur.2019.01287
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- Publication type:
- Article
Treatment paradigms for mitochondrial optic neuropathies.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8043
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- Publication type:
- Article
A 15-year epileptogenic period after perinatal brain injury.
- Published in:
- Functional Neurology, 2017, v. 32, n. 1, p. 49, doi. 10.11138/FNeur/2017.32.1.049
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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
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
- Published in:
- Journal of Neurology, 2023, v. 270, n. 1, p. 559, doi. 10.1007/s00415-022-11355-w
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- Publication type:
- Article
Multifocal VEP provide electrophysiological evidence of predominant dysfunction of the optic nerve fibers derived from the central retina in Leber's hereditary optic neuropathy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 9, p. 1591, doi. 10.1007/s00417-015-2979-1
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- 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
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- Publication type:
- Article
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 918, doi. 10.1002/acn3.51773
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- Publication type:
- Article
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- 2020
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- Publication type:
- Correction Notice
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
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- Publication type:
- Article
OPA1-RELATED AUDITORY NEUROPATHY: SITE OF LESION AND OUTCOME OF COCHLEAR IMPLANTATION.
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- Journal of International Advanced Otology, 2015, v. 11, p. 15
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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
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
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- Publication type:
- 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
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- Publication type:
- 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
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
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
Chromatic pupillometry for evaluating melanopsin retinal ganglion cell function in Alzheimer's disease and other neurodegenerative disorders: a review.
- Published in:
- Frontiers in Psychology, 2024, p. 1, doi. 10.3389/fpsyg.2023.1295129
- By:
- Publication type:
- Article
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.887696
- 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
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
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- 2020
- By:
- Publication type:
- journal article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514
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- Publication type:
- Article
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
- Published in:
- Brain Communications, 2024, v. 6, n. 3, p. 1, doi. 10.1093/braincomms/fcae160
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- 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
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- Publication type:
- Article