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Some patients with XP develop a primary neuronal degeneration which has been thought to result from unrepaired damage in neuronal DNA. Five years ago we reported that cultured skin fibroblasts from a 12\u2010yearold girl with XP, who then had only one major neurological abnormality of the disease, had a sensitivity to ultraviolet radiation intermediate between that of XP patients with numerous neurological abnormalities and those with none. Recent neurological studies reveal that she has a slowly but progressively developing sensorineural deafness as well as cerebellar and motor dysfunction typical of XP. The results support the postulate that defective DNA repair is associated with premature neuron death.<\/jats:p>","DOI":"10.1002\/ana.410130621","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:49:40Z","timestamp":1104587380000},"page":"682-684","source":"Crossref","is-referenced-by-count":49,"title":["Evidence that lack of deoxyribonucleic acid repair causes death of neurons in xeroderma pigmentosum"],"prefix":"10.1002","volume":"13","author":[{"given":"Jay H.","family":"Robbins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Polinsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan N.","family":"Moshell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.75.4.1984"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(79)90202-1"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12524886"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01044.x"},{"key":"e_1_2_1_6_2","first-page":"269","article-title":"\u013didiozia xerodermica","volume":"56","author":"De Sanctis C","year":"1932","journal-title":"Rev Sper Freniatr"},{"key":"e_1_2_1_7_2","first-page":"85","volume-title":"Advances in Radiation Biology","author":"Friedberg EC","year":"1979"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00112.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(79)90231-8"},{"key":"e_1_2_1_10_2","first-page":"225","volume-title":"DNA Repair Processes: Cellular Senescence and Somatic Cell Genetics","author":"Lindahl T","year":"1977"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.3.168"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)90550-4"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-322650-1.50119-3"},{"key":"e_1_2_1_14_2","first-page":"645","article-title":"Significance of repair of human DNA: evidence from studies of xeroderma pigmentosum","volume":"61","author":"Robbins JH","year":"1978","journal-title":"J Natl Cancer Inst"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-322650-1.50120-X"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-80-2-221"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.10.6451"},{"key":"e_1_2_1_18_2","first-page":"143","article-title":"Xeroderma pigmentosa mit Storungen des Zentralnervensystems: eine histopathologische Untersuchung","volume":"4","author":"Yano K","year":"1950","journal-title":"Folia Psychiatr Neurol Jpn"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410130621","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410130621","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T22:00:03Z","timestamp":1697752803000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410130621"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,6]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1983,6]]}},"alternative-id":["10.1002\/ana.410130621"],"URL":"https:\/\/doi.org\/10.1002\/ana.410130621","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,6]]}}}