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Bilateral paediatric optic neuropathy precipitated by vitamin B12 deficiency and a novel mitochondrial DNA mutation.
- Published in:
- International Ophthalmology, 2013, v. 33, n. 6, p. 687, doi. 10.1007/s10792-013-9773-z
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- Publication type:
- Article
Polarized secretion of IGF-I and IGF-I binding protein activity by cultured aortic endothelial cells.
- Published in:
- Journal of Cellular Physiology, 1993, v. 154, n. 1, p. 139, doi. 10.1002/jcp.1041540117
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- Publication type:
- Article
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 218, doi. 10.1002/mdc3.13398
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- Publication type:
- Article
Book Reviews.
- Published in:
- 1999
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- Publication type:
- Book Review
Remuscularization with triiodothyronine and β<sub>1</sub>-blocker therapy reverses post-ischemic left ventricular dysfunction and adverse remodeling.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12723-2
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- Publication type:
- Article
Antimalarial drug toxicity: a review.
- Published in:
- 2004
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- Publication type:
- journal article
Antimalarial Drug Toxicity.
- Published in:
- Drug Safety, 2004, v. 27, n. 1, p. 25, doi. 10.2165/00002018-200427010-00003
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- Publication type:
- Article
Emerging roles of ATG7 in human health and disease.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 12, p. 1, doi. 10.15252/emmm.202114824
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- Publication type:
- Article
Machine learning algorithms reveal the secrets of mitochondrial dynamics.
- Published in:
- EMBO Molecular Medicine, 2021, v. 13, n. 6, p. 1, doi. 10.15252/emmm.202114316
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- Publication type:
- Article
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
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- Publication type:
- Article
FBXL4 deficiency increases mitochondrial removal by autophagy.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911659
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- Publication type:
- Article
Metabolic effects of bezafibrate in mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
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- Publication type:
- Article
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 6, p. 1, doi. 10.15252/emmm.201708262
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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
Marketing/exposure time and market value estimates.
- Published in:
- Appraisal Journal, 1993, v. 61, n. 4, p. 489
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- Publication type:
- Article
Low-Dose Inhaled Nitric Oxide in Patients With Acute Lung Injury: A Randomized Controlled Trial.
- Published in:
- JAMA: Journal of the American Medical Association, 2004, v. 291, n. 13, p. 1603, doi. 10.1001/jama.291.13.1603
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- Publication type:
- Article
PET Imaging of Bacterial Infections with Fluorine-18-Labeled Maltohexaose.
- Published in:
- Angewandte Chemie International Edition, 2014, v. 53, n. 51, p. 14096, doi. 10.1002/anie.201408533
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Publication type:
- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
- Published in:
- 2014
- By:
- Publication type:
- journal article
SURF1 deficiency: a multi-centre natural history study.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-96
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- Publication type:
- Article
SURF1 deficiency: a multi-centre natural history study.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
- Published in:
- 2016
- By:
- Publication type:
- Letter
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
- Published in:
- Journal of Pathology, 2021, v. 254, n. 4, p. 430, doi. 10.1002/path.5641
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- Publication type:
- Article
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines.
- Published in:
- Journal of Pathology, 2021, v. 254, n. 3, p. 430, doi. 10.1002/path.5641
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- Publication type:
- Article
Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.
- Published in:
- Journal of Pathology, 2018, v. 246, n. 4, p. 427, doi. 10.1002/path.5156
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- Publication type:
- Article
A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency.
- Published in:
- Journal of Pathology, 2018, v. 245, n. 3, p. 311, doi. 10.1002/path.5084
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- Publication type:
- Article
The genetics and pathology of mitochondrial disease.
- Published in:
- Journal of Pathology, 2017, v. 241, n. 2, p. 236, doi. 10.1002/path.4809
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- Publication type:
- Article
Fosgonimeton, a Small‐Molecule Positive Modulator of the HGF/MET System, Attenuates Amyloid‐β – Mediated Toxicity in Primary Neuron Culture.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.080009
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- Publication type:
- Article
Fosgonimeton, a novel, small molecule positive modulator of the HGF/MET system is neuroprotective in primary neuron culture.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 10, p. 1, doi. 10.1002/alz.065874
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- Publication type:
- Article
Development of stable, orally bioavailable small molecule positive modulators of HGF/MET signaling for the treatment of cognitive impairment.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2022, v. 18, n. 10, p. 1, doi. 10.1002/alz.063440
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- Publication type:
- Article
The Effect of tRNA [Ser]Sec Isopentenylation on Selenoprotein Expression.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11454, doi. 10.3390/ijms222111454
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- Publication type:
- Article
Mitochondrial OXPHOS Biogenesis: Co-Regulation of Protein Synthesis, Import, and Assembly Pathways.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3820, doi. 10.3390/ijms21113820
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- Publication type:
- Article
Over-Expression of Catalase in Myeloid Cells Confers Acute Protection Following Myocardial Infarction.
- Published in:
- International Journal of Molecular Sciences, 2014, v. 15, n. 5, p. 9036, doi. 10.3390/ijms15059036
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- Publication type:
- Article
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007605
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- Publication type:
- Article
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
- Published in:
- Journal of Clinical Investigation, 2004, v. 114, n. 6, p. 837, doi. 10.1172/JCI200420683
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- Publication type:
- Article
Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue.
- Published in:
- Journal of Raman Spectroscopy, 2023, v. 54, n. 3, p. 258, doi. 10.1002/jrs.6480
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- Publication type:
- Article
The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats.
- Published in:
- Journal of Raman Spectroscopy, 2022, v. 53, n. 2, p. 172, doi. 10.1002/jrs.6273
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- Publication type:
- Article
Platelet activation and secretion in patients with major depression, thoracic aortic atherosclerosis, or renal dialysis treatment.
- Published in:
- Depression & Anxiety (1091-4269), 2002, v. 15, n. 3, p. 91, doi. 10.1002/da.10020
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- Publication type:
- Article
Intestinal barrier dysfunction in murine sickle cell disease is associated with small intestine neutrophilic inflammation, oxidative stress, and dysbiosis.
- Published in:
- FASEB Bioadvances, 2023, v. 5, n. 5, p. 199, doi. 10.1096/fba.2022-00121
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- Publication type:
- Article
A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 789, doi. 10.3390/jcm8060789
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- Publication type:
- Article
ORGANIZED CRIME.
- Published in:
- 1987
- By:
- Publication type:
- Book Review
INTEGRATED MANAGEMENT DECISION-MAKING: A FUTURISTIC MODEL FOR POLICE ORGANIZATIONS.
- Published in:
- American Journal of Criminal Justice, 1984, v. 9, n. 1, p. 31, doi. 10.1007/BF03373754
- By:
- Publication type:
- Article
Is It an Inside Job? An Examination of Internal Affairs Complaint Investigation Files and the Production of Nonsustained Findings.
- Published in:
- Criminal Justice Policy Review, 2007, v. 18, n. 4, p. 353, doi. 10.1177/0887403407303799
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- Publication type:
- Article
Conserved miR-370-3p/BMP-7 axis regulates the phenotypic change of human vascular smooth muscle cells.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-022-26711-z
- By:
- Publication type:
- Article
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 11, p. 5313, doi. 10.1093/nar/gkw382
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- Publication type:
- Article
Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.
- Published in:
- Nucleic Acids Research, 2008, v. 36, n. 9, p. 3065, doi. 10.1093/nar/gkn147
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- Publication type:
- Article
Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 13, p. e95, doi. 10.1093/nar/gkl516
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- Publication type:
- Article
2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0
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- Publication type:
- Article
Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS‐related disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2783, doi. 10.1002/ajmg.a.62848
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- Publication type:
- Article