XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia

Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

(2016) Connie Marras et al.   MOVEMENT DISORDERS

Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4

(2015) Jose Bras et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

(2015) Martine Tetreault et al.   HUMAN GENETICS

Improving CRISPR-Cas nuclease specificity using truncated guide RNAs

(2014) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

Aberrant topoisomerase-1 DNA lesions are pathogenic in neurodegenerative genome instability syndromes

(2014) Sachin Katyal et al.   NATURE NEUROSCIENCE

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations

(2012) Cathryn Poulton et al.   NEUROGENETICS

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

DNA 3'-Phosphatase Activity Is Critical for Rapid Global Rates of Single-Strand Break Repair following Oxidative Stress

(2009) C. Breslin et al.   MOLECULAR AND CELLULAR BIOLOGY

The genesis of cerebellar interneurons and the prevention of neural DNA damage require XRCC1

(2009) Youngsoo Lee et al.   NATURE NEUROSCIENCE