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Nature, ISSN 0028-0836, 04/2017, Volume 544, Issue 7650, pp. 362 - 366
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 1/2012, Volume 109, Issue 5, pp. 1661 - 1666
Journal Article
Nature, ISSN 0028-0836, 01/2017, Volume 541, Issue 7635, pp. 87 - 91
XRCC1 is a molecular scaffold protein that assembles multiprotein complexes involved in DNA single-strand break repair(1,2). Here we show that biallelic... 
POLY(ADP-RIBOSE) POLYMERASE | CELLS | RATES | STRAND BREAK REPAIR | SPINOCEREBELLAR ATAXIA | REPLICATION | BASE EXCISION-REPAIR | GENE | DNA | MULTIDISCIPLINARY SCIENCES | DISEASE | Chromatin - metabolism | Humans | Adenosine Diphosphate Ribose - metabolism | DNA Repair Enzymes - genetics | Male | DNA Repair - genetics | DNA-Binding Proteins - deficiency | DNA Breaks, Single-Stranded | DNA-Binding Proteins - metabolism | Apraxias - congenital | Apraxias - genetics | DNA Repair Enzymes - metabolism | Poly (ADP-Ribose) Polymerase-1 - deficiency | Female | Ataxia - genetics | Cogan Syndrome - genetics | Cerebellum - metabolism | Phosphotransferases (Alcohol Group Acceptor) - genetics | Poly (ADP-Ribose) Polymerase-1 - metabolism | Cerebellar Ataxia - pathology | DNA-Binding Proteins - genetics | Interneurons - pathology | Cerebellum - pathology | Phosphotransferases (Alcohol Group Acceptor) - metabolism | Phenotype | Animals | Cerebellar Ataxia - genetics | Interneurons - metabolism | Pedigree | Axons - pathology | Alleles | Mice | Mutation | X-ray Repair Cross Complementing Protein 1 | Poly (ADP-Ribose) Polymerase-1 - genetics | Genetic aspects | Gene mutations | Health aspects | Cerebellar ataxia | Proteins | Studies | Genotype & phenotype | Disease | Fibroblasts | Ataxia | Peripheral neuropathy | Patients | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Annals of Neurology, ISSN 0364-5134, 12/2015, Volume 78, Issue 6, pp. 871 - 886
Journal Article