Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

(2011) R. D. S. Pitceathly et al.   JOURNAL OF MEDICAL GENETICS

p53R2 Inhibits the Proliferation of Human Cancer Cells in Association with Cell-Cycle Arrest

(2011) K. Zhang et al.   MOLECULAR CANCER THERAPEUTICS

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

(2011) C. Fratter et al.   NEUROLOGY

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

(2011) Atsushi Takata et al.   GENOME BIOLOGY

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

2.6 Å X-ray Crystal Structure of Human p53R2, a p53-Inducible Ribonucleotide Reductase,

(2009) Peter Smith et al.   BIOCHEMISTRY

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

(2009) Birgit Acham-Roschitz et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Diagnosis of mitochondrial DNA depletion syndromes

(2008) S. Rahman et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

(2008) Belén Bornstein et al.   NEUROMUSCULAR DISORDERS

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

(2008) Emma Blakely et al.   NEUROMUSCULAR DISORDERS