MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

Known as: EIEE10, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10, MCSZ 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2010-2017
02420102017

Papers overview

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Review
2017
Review
2017
A variety of human neurologic diseases are caused by inherited defects in DNA repair. In many cases, these syndromes almost… (More)
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Review
2016
Review
2016
Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic… (More)
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2015
2015
Polynucleotide kinase-phosphatase (PNKP) is a DNA repair factor possessing both 5'-kinase and 3'-phosphatase activities to modify… (More)
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Review
2015
Review
2015
Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used… (More)
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Review
2013
Review
2013
Sir, We are grateful for the opportunity to respond to the correspondence from Oegema et al. (2013) and we thank the authors for… (More)
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2012
2012
Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in… (More)
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2011
2011
S cission of one or both strands of the DNA duplex occurs as ionizing radiation and oxidative DNA damage mount a constant assault… (More)
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2011
2011
The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… (More)
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Highly Cited
2010
Highly Cited
2010
Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair… (More)
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2010
2010
MCSZ is a newly identified autosomal recessive disease characterized by microcephaly, infantileonset seizures, developmental… (More)
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