ArticleAJNR. American journal of neuroradiology2018
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.
Article in AJNR. American journal of neuroradiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Meta-analysis and open-source database for in vivo brain Magnetic Resonance spectroscopy in health and disease.Analytical biochemistry · 2023Pooled it
- Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.EBioMedicine · 2022Pooled it
- Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.International journal of molecular sciences · 2025Article
- Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.Radiology case reports · 2025Article
- Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.Journal of molecular medicine (Berlin, Germany) · 2023Article
- Meta-analysis and Open-source Database for In Vivo Brain Magnetic Resonance Spectroscopy in Health and Disease.bioRxiv : the preprint server for biology · 2023Article
- Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.International journal of molecular sciences · 2022Article
- Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.Annals of clinical and translational neurology · 2021Article
- Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.American journal of physiology. Gastrointestinal and liver physiology · 2021Article
- A novel nonsense mutation in the TYMP gene causing MNGIE with multiple intracranial hemorrhages on brain MRI.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.International journal of molecular sciences · 2021Article
- Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.Journal of inherited metabolic disease · 2021Review
- Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.Journal of neurology · 2020Article
- Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.Journal of translational genetics and genomics · 2020Article
- Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.Scientific reports · 2020Article
- Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.Journal of clinical medicine · 2019Article
- Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.Frontiers in genetics · 2018Review
Corrections and comments
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Authors and funding
23 authors at 8 institutions in 2 countries.
Funding
Abstract
background and purposeMitochondrial neurogastrointestinal encephalopathy is a rare disorder due to recessive mutations in the MATERIALS AND
methodsSeven patients underwent brain MR imaging, including single-voxel proton MR spectroscopy and diffusion imaging. Absolute concentrations of metabolites calculated by acquiring unsuppressed water spectra at multiple TEs, along with diffusion metrics based on the tensor model, were compared with those of healthy controls using unpaired
resultsAll patients showed bilateral and nearly symmetric cerebral white matter hyperintensities on T2-weighted images, extending to the cerebellar white matter and brain stem in 4. White matter,
conclusionsVascular functional and histologic alterations account for leukoencephalopathy in mitochondrial neurogastrointestinal encephalopathy. Thymidine toxicity and mitochondrial DNA replication depletion may induce microangiopathy and blood-brain-barrier dysfunction, leading to increased water content in the white matter. Periependymal cytochrome
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.