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
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.
Zhao Y et al.
Clinical Genetics, 2024
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
Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
Du J et al.
Journal of Molecular Medicine (berlin, Germany), 2023
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
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