Associated Papers
Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
Xu X et al.
Orphanet Journal of Rare Diseases, 2025
Multiscale Simulations and Profiling of Human Thymidine Phosphorylase Mutations: Insights into Structural, Dynamics, and Functional Impacts in Mitochondrial Neurogastrointestinal Encephalopathy.
Bhagat K et al.
The Journal of Physical Chemistry. B, 2025
Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.
Christodoulou MV et al.
Radiology Case Reports, 2025
39758336 (PubMed )
Supplement: mmc1.pdf
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.
Redha N et al.
Journal of Central Nervous System Disease, 2024
38550250 (PubMed )
Supplement: sj-pdf-1-cns-10.1177_11795735241241423.pdf
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.
Pacitti D et al.
Frontiers in Genetics, 2018
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s007.pdf
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.
Libernini L et al.
Neuropediatrics, 2012
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
Garone C et al.
Brain : a Journal of Neurology, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Phenotypic variability in a Spanish family with MNGIE.
Gamez J et al.
Neurology, 2002
Select a paper to view details