Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
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Title
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics
Authors
Keywords
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Journal
BRAIN
Volume 135, Issue 11, Pages 3392-3403
Publisher
Oxford University Press (OUP)
Online
2012-10-30
DOI
10.1093/brain/aws231
References
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Related references
Note: Only part of the references are listed.- 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
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