Varaico: Literature-Extracted Genetic Variants

Gene:TYMP
Variant:p.G387Splc
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TYMP

NM_001953.5:p.G387Splc

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

Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.

Boschetti E et al.

International Journal of Molecular Sciences, 2022

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.

D'Angelo R et al.

Journal of Neurology, 2020

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.

Ronchi D et al.

Frontiers in Genetics, 2020

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 Presenting as Anorexia Nervosa.

Demaria F et al.

The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine, 2016

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

De Giorgio R et al.

Annals of Neurology, 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

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Filosto M et al.

Journal of Neurology, 2012

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Filosto M et al.

Journal of Inherited Metabolic Disease, 2011

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity.

Massa R et al.

Neuromuscular Disorders : Nmd, 2009

Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.

Amiot A et al.

Gastroenterology, 2009

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