Associated Papers
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
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Ronchi D et al.
Frontiers in Genetics, 2020
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
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
Torres-Torronteras J et al.
Human Mutation, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity.
Martí R et al.
Annals of Neurology, 2005
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