Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
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Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegiaMitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsClinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathyAutosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.Defects in mitochondrial DNA replication and human diseaseThe role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice.Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cellsAdults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.Neuroimaging in mitochondrial disordersAdult mitochondrial DNA depletion syndrome with mild manifestations.Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.Syndromes associated with mitochondrial DNA depletion.Peripheral neuropathy associated with mitochondrial disease in children.Gastrointestinal and hepatic manifestations of mitochondrial disorders.Ribonucleotide reductase and cancer: biological mechanisms and targeted therapies.A Critical Balance: dNTPs and the Maintenance of Genome StabilityInfantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.Deoxyribonucleotide metabolism in cycling and resting human fibroblasts with a missense mutation in p53R2, a subunit of ribonucleotide reductase.Highly mutagenic and severely imbalanced dNTP pools can escape detection by the S-phase checkpointMitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.Challenges to DNA replication in hypoxic conditions.A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation.Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.Real-time quantitative PCR analysis of mitochondrial DNA content.Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
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P2860
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@en
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@nl
type
label
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@en
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@nl
prefLabel
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@en
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@nl
P2093
P2860
P1433
P1476
Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.
@en
P2093
Aziz Shaibani
Lee-Jun Wong
Marwan Shinawi
Oleg A Shchelochkov
Panagiotis Katsonis
Shulin Zhang
P2860
P304
P356
10.1001/ARCHNEUROL.2009.139
P577
2009-08-01T00:00:00Z