Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutations in Thymidine Phosphorylase Gene in Two Italian Brothers

(2012) Laura Libernini et al.   NEUROPEDIATRICS

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

(2011) K. Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

(2009) Aziz Shaibani et al.   ARCHIVES OF NEUROLOGY

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

(2009) Roberto Massa et al.   NEUROMUSCULAR DISORDERS

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

(2009) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

(2008) Luis C. López et al.   HUMAN MOLECULAR GENETICS