Found: 23
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A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
- Published in:
- Neuroepidemiology, 2022, v. 56, n. 3, p. 212, doi. 10.1159/000525159
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- Article
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1385, doi. 10.3390/ijms21041385
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- Article
The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 916, doi. 10.3390/ijms21030916
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- Article
Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5211, doi. 10.3390/ijms20205211
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- Article
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.
- Published in:
- Archives of Public Health, 2023, v. 81, n. 1, p. 1, doi. 10.1186/s13690-023-01112-4
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- Article
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
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- Genes, 2024, v. 15, n. 4, p. 508, doi. 10.3390/genes15040508
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- Article
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0383-7
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- Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
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- Publication type:
- Article
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01357-0
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- Article
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1578, doi. 10.3390/biom11111578
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- Publication type:
- Article
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 11, p. 1551, doi. 10.3390/biom10111551
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- Publication type:
- Article
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
- Published in:
- Biomolecules (2218-273X), 2020, v. 10, n. 5, p. 702, doi. 10.3390/biom10050702
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- Publication type:
- Article
Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich's Ataxia: Clues of an "Out-Brain Origin" of the Disease From a Family Study.
- Published in:
- Frontiers in Neuroscience, 2021, v. 14, p. N.PAG, doi. 10.3389/fnins.2021.638810
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- Article
An international classification of inherited metabolic disorders (ICIMD).
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 164, doi. 10.1002/jimd.12348
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- Publication type:
- Article
HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle‐resident mesenchymal cells.
- Published in:
- EMBO Reports, 2020, v. 21, n. 9, p. 1, doi. 10.15252/embr.202050863
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- Article
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.
- Published in:
- Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
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- Article
Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
- Published in:
- 2018
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- Publication type:
- Letter
Expanding the natural history of CASK‐related disorders to the prenatal period.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 4, p. 544, doi. 10.1111/dmcn.15419
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- Publication type:
- Article
Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame.
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- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041065
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- Article
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 6, p. e91, doi. 10.1111/epi.13772
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- Article
Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 5, p. e53, doi. 10.1111/epi.12967
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- Publication type:
- Article
Imbalance of Systemic Redox Biomarkers in Children with Epilepsy: Role of Ferroptosis.
- Published in:
- Antioxidants, 2021, v. 10, n. 8, p. 1267, doi. 10.3390/antiox10081267
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- Publication type:
- Article
Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.603774
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- Article