MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY

A variety of human neurologic diseases are caused by inherited defects in DNA repair. In many cases, these syndromes almost… (More)

Microcephaly is a rare neurological condition, both in isolation and when it occurs as part of a syndrome. One of the syndromic… (More)

Polynucleotide kinase-phosphatase (PNKP) is a DNA repair factor possessing both 5'-kinase and 3'-phosphatase activities to modify… (More)

Hereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used… (More)

Sir, We are grateful for the opportunity to respond to the correspondence from Oegema et al. (2013) and we thank the authors for… (More)

Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in… (More)

S cission of one or both strands of the DNA duplex occurs as ionizing radiation and oxidative DNA damage mount a constant assault… (More)

The repair of reactive oxygen species (ROS)-induced base lesions and single-strand breaks (SSBs) in the nuclear genome via the… (More)

Maintenance of DNA integrity is crucial for all cell types, but neurons are particularly sensitive to mutations in DNA repair… (More)

MCSZ is a newly identified autosomal recessive disease characterized by microcephaly, infantileonset seizures, developmental… (More)