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Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families.
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- Movement Disorders, 2008, v. 23, n. 1, p. 28, doi. 10.1002/mds.21715
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- Publication type:
- Article
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease.
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- Movement Disorders, 2006, v. 21, n. 8, p. 1232, doi. 10.1002/mds.20890
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- Publication type:
- Article
New strontium-based coatings show activity against pathogenic bacteria in spine infection.
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- Frontiers in Bioengineering & Biotechnology, 2024, p. 1, doi. 10.3389/fbioe.2024.1347811
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- Publication type:
- Article
Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions.
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- Cells (2073-4409), 2022, v. 11, n. 6, p. 974, doi. 10.3390/cells11060974
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
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- 2018
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- Publication type:
- journal article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
- Published in:
- 2018
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- Publication type:
- journal article
Antibacterial and Antibiofilm Activity of Nanostructured Copper Films Prepared by Ionized Jet Deposition.
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- Antibiotics (2079-6382), 2023, v. 12, n. 1, p. 55, doi. 10.3390/antibiotics12010055
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- Publication type:
- Article
Microbial diversity and biosignatures of amorphous silica deposits in orthoquartzite caves.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-35532-y
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- Publication type:
- Article
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1089956
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- Publication type:
- Article
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
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- Human Molecular Genetics, 2010, v. 19, n. 6, p. 1098, doi. 10.1093/hmg/ddp581
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- Publication type:
- Article
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.
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- Human Molecular Genetics, 2009, v. 18, n. 6, p. 1058, doi. 10.1093/hmg/ddn441
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- Publication type:
- Article
Customized biofilm device for antibiofilm and antibacterial screening of newly developed nanostructured silver and zinc coatings.
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- Journal of Biological Engineering, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s13036-023-00326-y
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- Publication type:
- Article
Human diseases associated with defects in assembly of OXPHOS complexes.
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- Essays in Biochemistry, 2018, v. 62, n. 3, p. 271, doi. 10.1042/EBC20170099
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- Publication type:
- Article
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 6, p. 1967, doi. 10.1093/brain/awae057
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- Publication type:
- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
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- Publication type:
- Article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
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- 2021
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- Publication type:
- journal article
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 16, p. 12580, doi. 10.3390/ijms241612580
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- Publication type:
- Article
The microbiota characterizing huge carbonatic moonmilk structures and its correlation with preserved organic matter.
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- Environmental Microbiome, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s40793-024-00562-9
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- Publication type:
- Article
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
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- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Publication type:
- Article
Insights into the microbial life in silica-rich subterranean environments: microbial communities and ecological interactions in an orthoquartzite cave (Imawarì Yeuta, Auyan Tepui, Venezuela).
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- Frontiers in Microbiology, 2022, v. 13, p. 1, doi. 10.3389/fmicb.2022.930302
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- Publication type:
- Article
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
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- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00078
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- Publication type:
- Article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
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- Publication type:
- Article
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.
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- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00397
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- Publication type:
- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
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- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Publication type:
- Article
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
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- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
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- Publication type:
- Article
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS.
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- EMBO Molecular Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.15252/emmm.201809582
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- Publication type:
- Article
Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions.
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- EMBO Molecular Medicine, 2018, v. 10, n. 10, p. N.PAG, doi. 10.15252/emmm.201708698
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- Publication type:
- Article
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy.
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- EMBO Molecular Medicine, 2015, v. 7, n. 7, p. 918, doi. 10.15252/emmm.201404803
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- Publication type:
- Article
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
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- EMBO Molecular Medicine, 2014, v. 6, n. 6, p. 849, doi. 10.15252/emmm.201470060
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- Publication type:
- Article
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells.
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- EMBO Molecular Medicine, 2014, v. 6, n. 2, p. 169, doi. 10.1002/emmm.201303198
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- Publication type:
- Article
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians.
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- European Journal of Human Genetics, 2005, v. 13, n. 6, p. 748, doi. 10.1038/sj.ejhg.5201425
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- Publication type:
- Article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
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- Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761
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- Publication type:
- Article
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
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- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
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- Publication type:
- Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
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- Publication type:
- Article
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children.
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- Applied Sciences (2076-3417), 2021, v. 11, n. 5, p. 2333, doi. 10.3390/app11052333
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- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
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- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Publication type:
- Article
Combining 3D Printing and Cryostructuring to Tackle Infection and Spine Fusion.
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- Advanced Materials Technologies, 2024, v. 9, n. 5, p. 1, doi. 10.1002/admt.202301301
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- Publication type:
- Article
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
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- 2019
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- Publication type:
- case study
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1615, doi. 10.1002/acn3.52079
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- Publication type:
- Article
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1844, doi. 10.1002/acn3.51876
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- Publication type:
- Article
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22062-x
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- Publication type:
- Article
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
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- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.815523
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- Publication type:
- Article
The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes.
- Published in:
- EMBO Molecular Medicine, 2013, v. 5, n. 2, p. 280, doi. 10.1002/emmm.201201739
- By:
- Publication type:
- Article
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03212-y
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- Publication type:
- Article
Epileptic phenotypes in children with early‐onset mitochondrial diseases.
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- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 184, doi. 10.1111/ane.13130
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- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-66
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- Publication type:
- Article
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant.
- Published in:
- 2013
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- Publication type:
- journal article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
Validation of Antibacterial Systems for Sustainable Ceramic Tiles.
- Published in:
- Coatings (2079-6412), 2021, v. 11, n. 11, p. 1409, doi. 10.3390/coatings11111409
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- Publication type:
- Article