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The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
- Published in:
- International Journal of Cell Biology, 2014, p. 1, doi. 10.1155/2014/787956
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- Publication type:
- Article
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
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- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 805, doi. 10.1007/s11011-017-0181-3
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- Publication type:
- Article
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine.
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- Movement Disorders, 2024, v. 39, n. 1, p. 29, doi. 10.1002/mds.29657
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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
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
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
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal.
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- Human Mutation, 2022, v. 43, n. 1, p. 99, doi. 10.1002/humu.24303
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- Publication type:
- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
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- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Response to: "Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number".
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 2014, doi. 10.1002/humu.24122
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- Publication type:
- Article
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
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- Human Mutation, 2020, v. 41, n. 10, p. 1745, doi. 10.1002/humu.24081
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- Publication type:
- Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
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- Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
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- Publication type:
- Article
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 2060, doi. 10.1002/humu.23658
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- Publication type:
- Article
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases.
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- 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
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
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
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
Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.815523
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- Publication type:
- Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317
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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.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 2, p. 169, doi. 10.1002/emmm.201303198
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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
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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
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
- Published in:
- Biomedicines, 2021, v. 9, n. 7, p. 833, doi. 10.3390/biomedicines9070833
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- Publication type:
- Article
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1089956
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- Publication type:
- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Publication type:
- Article
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
- Published in:
- 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
High frequency stimulation of the subthalamic nucleus is efficacious inParkindisease.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 2, p. 208, doi. 10.1007/s00415-005-0638-x
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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
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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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
Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814
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- Publication type:
- Article
Geomicrobiology of a seawater-influenced active sulfuric acid cave.
- Published in:
- PLoS ONE, 2019, v. 14, n. 8, p. 1, doi. 10.1371/journal.pone.0220706
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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).
- Published in:
- 2019
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- Publication type:
- case study
Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- 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
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
- Published in:
- 2021
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- Publication type:
- journal article
New missense variants of NDUFA11 associated with late-onset myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
- Published in:
- 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.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
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- Publication type:
- Article
Molecular characterization of microbial communities in a peat-rich aquifer system contaminated with chlorinated aliphatic compounds.
- Published in:
- Environmental Science & Pollution Research, 2021, v. 28, n. 18, p. 23017, doi. 10.1007/s11356-020-12236-3
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- Publication type:
- Article
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
- Published in:
- 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.
- Published in:
- 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.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00397
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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
Variants in ATP5F1B are associated with dominantly inherited dystonia.
- Published in:
- 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.
- Published in:
- 2021
- By:
- Publication type:
- journal article