Associated Papers
Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Amalnath D et al.
Annals of Indian Academy of Neurology, 2026
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
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 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
Insights from the SNP analysis of TYMP gene linking MNGIE.
Sifeddine N et al.
Bioinformation, 2024
Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.
Döring C et al.
Frontiers in Oncology, 2023
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
D'Angelo R et al.
Journal of Neurology, 2020
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kripps K et al.
Molecular Genetics and Metabolism, 2020
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Ronchi D et al.
Frontiers in Genetics, 2020
[Fatal cachexia caused by mitochondrial neuro-gastro-intestinal encephalomyopathy].
Hoei-Hansen CE et al.
Ugeskrift for Laeger, 2019
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.
Levene M et al.
Journal of Clinical Medicine, 2019
Transplantation, gene therapy and intestinal pathology in MNGIE patients and mice.
Yadak R et al.
Bmc Gastroenterology, 2018
Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.
Pacitti D et al.
Frontiers in Genetics, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Halter JP et al.
Brain : a Journal of Neurology, 2015
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.
Scarpelli M et al.
The Neuroradiology Journal, 2013
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation.
Finkenstedt A et al.
Jimd Reports, 2013
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.
Scarpelli M et al.
Case Reports in Neurology, 2012
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers.
Libernini L et al.
Neuropediatrics, 2012
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
Filosto M et al.
Journal of Inherited Metabolic Disease, 2011
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.
Bakker JA et al.
Journal of Inherited Metabolic Disease, 2010
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Amiot A et al.
Gastroenterology, 2009
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
Giordano C et al.
The American Journal of Pathology, 2008
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation.
Said G et al.
Journal of Neurology, 2005
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A et al.
Molecular Genetics and Metabolism, 2005
Increased blood-brain barrier permeability with thymidine phosphorylase deficiency.
Szigeti K et al.
Annals of Neurology, 2004
Digestive smooth muscle mitochondrial myopathy in patients with mitochondrial-neuro-gastro-intestinal encephalomyopathy (MNGIE).
Blondon H et al.
Gastroenterologie Clinique Et Biologique, 0