Associated Papers
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
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
Insights from the SNP analysis of TYMP gene linking MNGIE.
Sifeddine N et al.
Bioinformation, 2024
Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.
Valiente-Pallejà A et al.
Ebiomedicine, 2022
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy.
Gramegna LL et al.
Ajnr. American Journal of Neuroradiology, 2018
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.
Pacitti D et al.
Frontiers in Genetics, 2018
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.
Libernini L et al.
Neuropediatrics, 2012
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
Giordano C et al.
The American Journal of Pathology, 2008
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
Martí R et al.
Annals of Neurology, 2005
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