{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:51:35Z","timestamp":1790938295299,"version":"4.1.0"},"reference-count":103,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2009,9,1]],"date-time":"2009-09-01T00:00:00Z","timestamp":1251763200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mechanisms of Ageing and Development"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1016\/j.mad.2009.07.006","type":"journal-article","created":{"date-parts":[[2009,7,31]],"date-time":"2009-07-31T12:20:54Z","timestamp":1249042854000},"page":"619-636","source":"Crossref","is-referenced-by-count":137,"title":["Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration"],"prefix":"10.1016","volume":"130","author":[{"given":"Karen M.","family":"Weidenheim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Rapin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mad.2009.07.006_bib1","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1369\/jhc.6A7156.2007","article-title":"Actin-binding proteins coronin-1a and IBA-1 are effective microglial markers for immunohistochemistry","volume":"55","author":"Ahmed","year":"2007","journal-title":"J. Histochem. Cytochem."},{"key":"10.1016\/j.mad.2009.07.006_bib2","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1080\/000155500750043032","article-title":"Rare case of Cockayne syndrome with xeroderma pigmentosum","volume":"80","author":"Bartenjev","year":"2000","journal-title":"Acta Derm. Venereol."},{"key":"10.1016\/j.mad.2009.07.006_bib3","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1212\/WNL.36.9.1192","article-title":"AIDS: calcification of the basal ganglia in infants and children","volume":"36","author":"Belman","year":"1986","journal-title":"Neurology"},{"key":"10.1016\/j.mad.2009.07.006_bib4","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.1212\/WNL.0b013e3181a6b123","article-title":"Oligodendrocytes: susceptibility to injury and involvement in neurologic disease","volume":"72","author":"Benarroch","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.mad.2009.07.006_bib5","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1192\/bjp.114.512.797","article-title":"The association between quantitative measures of dementia and of senile change in the cerebral gray matter of elderly subjects","volume":"114","author":"Blessed","year":"1968","journal-title":"Br. J. Psychiatry"},{"key":"10.1016\/j.mad.2009.07.006_bib6","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1002\/humu.20768","article-title":"Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy","volume":"29","author":"Boyle","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mad.2009.07.006_bib7","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1016\/j.dnarep.2008.01.017","article-title":"Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?","volume":"7","author":"Brooks","year":"2008","journal-title":"DNA Repair (Amst.)"},{"key":"10.1016\/j.mad.2009.07.006_bib8","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1001\/archneur.1978.00500300011002","article-title":"Normal pressure hydrocephalus: recognition and relationship to neurological abnormalities in Cockayne's syndrome","volume":"35","author":"Brumback","year":"1978","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib9","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1007\/BF02456305","article-title":"Distinctive skeletal dysplasia in Cockayne syndrome","volume":"16","author":"Cirillo Silengo","year":"1986","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.mad.2009.07.006_bib10","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1016\/j.neuroscience.2006.08.074","article-title":"Cockayne syndrome exhibits dysregulation of p21 and other gene products that may be independent of transcription-coupled repair","volume":"145","author":"Cleaver","year":"2007","journal-title":"Neuroscience"},{"key":"10.1016\/j.mad.2009.07.006_bib11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/adc.11.61.1","article-title":"Dwarfism with retinal atrophy and deafness","volume":"11","author":"Cockayne","year":"1936","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mad.2009.07.006_bib12","doi-asserted-by":"crossref","first-page":"1414","DOI":"10.1038\/nn1990","article-title":"Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH","volume":"10","author":"Compe","year":"2007","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.mad.2009.07.006_bib13","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1136\/jnnp.34.2.171","article-title":"Cockayne's syndrome: case report","volume":"34","author":"Crome","year":"1971","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.mad.2009.07.006_bib14","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1002\/ana.410340410","article-title":"Pathological markers associated with normal aging and dementia in the elderly","volume":"34","author":"Crystal","year":"1993","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib15","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1097\/00005072-199710000-00009","article-title":"Neuropathological findings in eight children with cerebro-oculo-facio-skeletal COFS syndrome","volume":"56","author":"Del Bigio","year":"1997","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib16","doi-asserted-by":"crossref","first-page":"4336","DOI":"10.1038\/sj.onc.1210232","article-title":"The role of CSA in the response to oxidative DNA damage in human cells","volume":"26","author":"D\u2019Errico","year":"2007","journal-title":"Oncogene"},{"key":"10.1016\/j.mad.2009.07.006_bib17","first-page":"87","article-title":"Ubiquitin immunoreactive structures in normal human brains, Distribution and developmental aspects","volume":"63","author":"Dickson","year":"1990","journal-title":"Lab. Invest."},{"key":"10.1016\/j.mad.2009.07.006_bib18","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0039-6257(02)00400-9","article-title":"Ocular manifestations in the inherited DNA repair disorders","volume":"48","author":"Dollfus","year":"2003","journal-title":"Surv. Ophthalmol."},{"key":"10.1016\/j.mad.2009.07.006_bib19","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1136\/jmg.15.3.227","article-title":"Necropsy of original case of Lowry's syndrome","volume":"15","author":"Dolman","year":"1978","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib20","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/jmg.2008.058743","article-title":"Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations","volume":"45","author":"Faghri","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib21","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1097\/00129492-200103000-00009","article-title":"Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration","volume":"22","author":"Fish","year":"2001","journal-title":"Otol. Neurotol."},{"key":"10.1016\/j.mad.2009.07.006_bib22","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1038\/cr.2008.6","article-title":"Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects","volume":"18","author":"Fousteri","year":"2008","journal-title":"Cell Res."},{"key":"10.1016\/j.mad.2009.07.006_bib23","series-title":"Developmental Neuropathology","author":"Friede","year":"1989"},{"key":"10.1016\/j.mad.2009.07.006_bib24","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1016\/S0022-3476(69)80317-3","article-title":"Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone","volume":"75","author":"Fujimoto","year":"1969","journal-title":"J. Pediatr."},{"key":"10.1016\/j.mad.2009.07.006_bib25","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/ana.410150205","article-title":"Deafness in Cockaynes's syndrome: morphological, morphometric, and quantitative study of the auditory pathway","volume":"15","author":"Gandolfi","year":"1984","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib26","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1128\/MCB.01037-06","article-title":"Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome","volume":"27","author":"Gorgels","year":"2007","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.mad.2009.07.006_bib27","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1086\/321295","article-title":"Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy","volume":"69","author":"Graham","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib28","first-page":"677","article-title":"Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes","volume":"50","author":"Greenhaw","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib29","first-page":"286","article-title":"Neurodegeneration with brain iron accumulation","volume":"43","author":"Gregory","year":"2005","journal-title":"Folia Neuropathol."},{"key":"10.1016\/j.mad.2009.07.006_bib30","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/S0022-3476(95)70454-X","article-title":"Brain metabolite changes on in vivo proton magnetic resonance spectroscopy in children with congenital hypothyroidism","volume":"126","author":"Gupta","year":"1995","journal-title":"J. Pediatr."},{"key":"10.1016\/j.mad.2009.07.006_bib31","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.braindev.2004.04.001","article-title":"Oxidative nucleotide damage and superoxide dismutase expression in the brains of xeroderma pigmentosum group A and Cockayne syndrome","volume":"27","author":"Hayashi","year":"2005","journal-title":"Brain Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/S0387-7604(12)80282-8","article-title":"A neuropathological study of early onset Cockayne syndrome with chromosomal anomaly 47XXX","volume":"14","author":"Hayashi","year":"1992","journal-title":"Brain Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib33","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1440-1789.2008.00888.x","article-title":"Oxidative stress in developmental brain disorders","volume":"29","author":"Hayashi","year":"2009","journal-title":"Neuropathology"},{"key":"10.1016\/j.mad.2009.07.006_bib34","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/mds.20665","article-title":"Deep brain stimulation to treat hyperkinetic symptoms of Cockayne syndrome","volume":"21","author":"Hebb","year":"2006","journal-title":"Mov. Disord."},{"key":"10.1016\/j.mad.2009.07.006_bib35","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1542\/peds.64.6.929","article-title":"The Cockayne syndrome: an evaluation of hypertension and studies of renal pathology","volume":"64","author":"Higginbottom","year":"1979","journal-title":"Pediatrics"},{"key":"10.1016\/j.mad.2009.07.006_bib36","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1007\/s00774-004-0517-z","article-title":"Progeroid syndrome as a model for impaired bone formation in senile osteoporosis","volume":"22","author":"Hishiya","year":"2004","journal-title":"J. Bone Miner. Metab."},{"key":"10.1016\/j.mad.2009.07.006_bib37","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1016\/S0022-3476(97)70160-4","article-title":"Brain magnetic resonance imaging in suspected extrapyramidal cerebral palsy: observations in distinguishing genetic\u2013metabolic from acquired causes","volume":"131","author":"Hoon","year":"1997","journal-title":"J. Pediatr."},{"key":"10.1016\/j.mad.2009.07.006_bib38","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/BF00687219","article-title":"Neuropathology of Seckel syndrome in fetal stage with evidence of intrauterine developmental retardation","volume":"74","author":"Hori","year":"1987","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.mad.2009.07.006_bib39","doi-asserted-by":"crossref","first-page":"15410","DOI":"10.1073\/pnas.0404587101","article-title":"Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome","volume":"101","author":"Horibata","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mad.2009.07.006_bib40","doi-asserted-by":"crossref","first-page":"565","DOI":"10.2169\/internalmedicine.36.565","article-title":"An adult case of Cockayne syndrome without sclerotic angiopathy","volume":"36","author":"Inoue","year":"1997","journal-title":"Intern. Med."},{"key":"10.1016\/j.mad.2009.07.006_bib41","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/j.molcel.2007.03.013","article-title":"XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G\/CS patients","volume":"26","author":"Ito","year":"2007","journal-title":"Mol. Cell"},{"key":"10.1016\/j.mad.2009.07.006_bib42","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1016\/S0387-7604(99)00033-9","article-title":"Neurodegeneration in hereditary nucleotide repair disorders","volume":"21","author":"Itoh","year":"1999","journal-title":"Brain Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib43","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/0165-5876(94)90062-0","article-title":"Chronological changes of auditory brainstem responses in Cockayne's syndrome","volume":"30","author":"Iwasaki","year":"1994","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.mad.2009.07.006_bib44","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1159\/000276867","article-title":"Vestibular findings and brainstem pathology in two siblings with Cockayne's syndrome","volume":"58","author":"Iwasaki","year":"1996","journal-title":"ORL J. Otorhinolaryngol. Relat. Spec."},{"key":"10.1016\/j.mad.2009.07.006_bib45","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1086\/512486","article-title":"First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure","volume":"80","author":"Jaspers","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib46","first-page":"364","article-title":"Enlarged oligodendroglial nuclei in Cockayne's syndrome","volume":"39","author":"Johnson","year":"1980","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib47","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1126\/science.1102587","article-title":"What can progeroid syndromes tell us about human aging?","volume":"305","author":"Kipling","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.mad.2009.07.006_bib48","doi-asserted-by":"crossref","first-page":"980","DOI":"10.1002\/pd.1541","article-title":"Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience","volume":"26","author":"Kleijer","year":"2006","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.mad.2009.07.006_bib49","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/S0304-3940(98)00109-8","article-title":"Cerebellar neurodegeneration in human hereditary DNA repair disorders","volume":"243","author":"Kohji","year":"1998","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.mad.2009.07.006_bib50","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.neuroscience.2006.12.020","article-title":"Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype\u2013phenotype relationship","volume":"145","author":"Kraemer","year":"2007","journal-title":"Neuroscience"},{"key":"10.1016\/j.mad.2009.07.006_bib51","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1111\/j.1471-0528.2003.01190.x","article-title":"Cockayne's Syndrome: case report of a successful pregnancy","volume":"110","author":"Lahiri","year":"2003","journal-title":"BJOG"},{"key":"10.1016\/j.mad.2009.07.006_bib52","doi-asserted-by":"crossref","first-page":"1389","DOI":"10.1073\/pnas.0610619104","article-title":"Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice","volume":"104","author":"Laposa","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/j.mad.2009.07.006_bib53","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1136\/jmg.2007.057141","article-title":"COFS syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation","volume":"45","author":"Laugel","year":"2008","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib54","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1097\/00005072-198509000-00006","article-title":"Cockayne syndrome: clinicopathologic and tissue culture studies of affected siblings","volume":"44","author":"Leech","year":"1985","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib55","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1136\/jmg.30.8.679","article-title":"Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation","volume":"30","author":"Lehmann","year":"1993","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib56","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1001\/archopht.1983.01040020095016","article-title":"Histopathology of the eye in Cockayne's syndrome","volume":"101","author":"Levin","year":"1983","journal-title":"Arch. Ophthalmol."},{"key":"10.1016\/j.mad.2009.07.006_bib57","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1053\/ejpn.2001.0523","article-title":"Xeroderma pigmentosum\/Cockayne syndrome complex: first neuropathological study and review of eight other cases","volume":"5","author":"Lindenbaum","year":"2001","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib58","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1097\/NEN.0b013e31816ff780","article-title":"DNA damage and repair: relevance to mechanisms of neurodegeneration","volume":"67","author":"Martin","year":"2008","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib59","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1055\/s-2001-15864","article-title":"Cockayne syndrome with marked cerebral symptoms","volume":"213","author":"Menges-Wenzel","year":"2001","journal-title":"Klin. Padiatr."},{"key":"10.1016\/j.mad.2009.07.006_bib60","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1056\/NEJMoa0706898","article-title":"Phenotype and course of Hutchinson-Gilford progeria syndrome","volume":"358","author":"Merideth","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mad.2009.07.006_bib61","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/S0190-9622(94)70034-6","article-title":"Cockayne syndrome in two adult siblings","volume":"30","author":"Miyauchi","year":"1994","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.mad.2009.07.006_bib62","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1440-1789.2004.00589.x","article-title":"A 35-year-old female with growth and developmental retardation, progressive ataxia, dementia and visual loss","volume":"25","author":"Mizuguchi","year":"2005","journal-title":"Neuropathology"},{"key":"10.1016\/j.mad.2009.07.006_bib63","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1136\/adc.45.243.674","article-title":"Peripheral neuropathy in Cockayne's syndrome","volume":"45","author":"Moosa","year":"1970","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mad.2009.07.006_bib64","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1097\/00005072-196710000-00010","article-title":"The neuropathology of Cockayne's syndrome","volume":"26","author":"Moossy","year":"1967","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib65","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1111\/1523-1747.ep12584287","article-title":"DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and Cockayne syndrome","volume":"107","author":"Moriwaki","year":"1996","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.mad.2009.07.006_bib66","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/ajmg.1320420115","article-title":"Cockayne syndrome: review of 140 cases","volume":"42","author":"Nance","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.mad.2009.07.006_bib67","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1001\/archneur.65.8.1117","article-title":"Response of motor complications in Cockayne syndrome to carbidopa-levodopa","volume":"65","author":"Neilan","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib68","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1016\/j.dnarep.2007.12.006","article-title":"Nucleotide excision repair deficient mouse models and neurological disease","volume":"7","author":"Niedernhofer","year":"2008","journal-title":"DNA Repair (Amst.)"},{"key":"10.1016\/j.mad.2009.07.006_bib69","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.mad.2008.04.010","article-title":"Tissue-specific accelerated aging in nucleotide excision repair deficiency","volume":"129","author":"Niedernhofer","year":"2008","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib70","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/nature05456","article-title":"A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis","volume":"444","author":"Niedernhofer","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.mad.2009.07.006_bib71","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1007\/BF01800059","article-title":"Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset","volume":"11","author":"Nishio","year":"1988","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.mad.2009.07.006_bib72","doi-asserted-by":"crossref","first-page":"1990","DOI":"10.1016\/j.dnarep.2008.08.009","article-title":"Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients. 3","volume":"7","author":"Nishiwaki","year":"2008","journal-title":"DNA Repair (Amst.)"},{"key":"10.1016\/j.mad.2009.07.006_bib73","doi-asserted-by":"crossref","first-page":"1155","DOI":"10.1016\/j.dnarep.2008.03.015","article-title":"Nucleotide excision repair and neurological diseases","volume":"7","author":"Nouspikel","year":"2008","journal-title":"DNA Repair (Amst.)"},{"key":"10.1016\/j.mad.2009.07.006_bib74","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1002\/humu.20392","article-title":"Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome","volume":"27","author":"Oh","year":"2006","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mad.2009.07.006_bib75","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1620\/tjem.89.151","article-title":"Renal lesions in Cockayne's syndrome","volume":"89","author":"Ohno","year":"1966","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.mad.2009.07.006_bib76","doi-asserted-by":"crossref","first-page":"2604","DOI":"10.1002\/ajmg.a.31986","article-title":"Aortic dilatation in Cockayne syndrome","volume":"143A","author":"Ovaert","year":"2007","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.mad.2009.07.006_bib77","first-page":"195","article-title":"Cockayne's syndrome: a report of five new cases with biochemical, chromosomal, dermatologic, genetic, and neuropathologic observations","volume":"15","author":"Paddison","year":"1963","journal-title":"Dermatol. Trop. Ecol. Geogr."},{"key":"10.1016\/j.mad.2009.07.006_bib78","doi-asserted-by":"crossref","first-page":"74","DOI":"10.3346\/jkms.1994.9.1.74","article-title":"Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency","volume":"9","author":"Park","year":"1994","journal-title":"J. Korean Med. Sci."},{"key":"10.1016\/j.mad.2009.07.006_bib79","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/adc.2005.080473","article-title":"Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays","volume":"91","author":"Pasquier","year":"2006","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.mad.2009.07.006_bib80","doi-asserted-by":"crossref","first-page":"1280","DOI":"10.1016\/j.neuroscience.2006.10.045","article-title":"Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair","volume":"145","author":"Perry","year":"2007","journal-title":"Neuroscience"},{"key":"10.1016\/j.mad.2009.07.006_bib81","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1016\/j.neurobiolaging.2009.04.002","article-title":"Neuropathology of nondemented aging: presumptive evidence for preclinical Alzheimer disease","volume":"30","author":"Price","year":"2009","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.mad.2009.07.006_bib82","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1212\/WNL.55.10.1442","article-title":"Cockayne syndrome and xeroderma pigmentosum: DNA repair disorders with overlaps and paradoxes","volume":"55","author":"Rapin","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.mad.2009.07.006_bib83","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1177\/08830738060210110101","article-title":"Cockayne syndrome in adults: review with clinical and pathologic study of a new case","volume":"21","author":"Rapin","year":"2006","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib84","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1093\/brain\/114.3.1335","article-title":"Neurological disease in xeroderma pigmentosum. Documentation of a late onset type of the juvenile onset form","volume":"114","author":"Robbins","year":"1991","journal-title":"Brain"},{"key":"10.1016\/j.mad.2009.07.006_bib85","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1146\/annurev.cellbio.16.1.145","article-title":"Molecular regulation of adipogenesis","volume":"16","author":"Rosen","year":"2000","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.mad.2009.07.006_bib86","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/BF00687702","article-title":"Cockayne's syndrome. Report of case with necropsy findings","volume":"14","author":"Rowlatt","year":"1969","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.mad.2009.07.006_bib87","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/S0387-7604(96)00057-5","article-title":"Neuropathological findings in the cerebro-oculo-facio-skeletal Pena-Shokeir II syndrome","volume":"19","author":"Sakai","year":"1997","journal-title":"Brain Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib88","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/S0387-7604(12)80098-2","article-title":"Demyelinating peripheral neuropathy in Cockayne syndrome: a histopathologic and morphometric study","volume":"14","author":"Sasaki","year":"1992","journal-title":"Brain Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib89","doi-asserted-by":"crossref","first-page":"2302","DOI":"10.1056\/NEJMoa0806142","article-title":"Age, neuropathology, and dementia","volume":"360","author":"Savva","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mad.2009.07.006_bib90","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/0190-9622(93)70263-S","article-title":"Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair","volume":"29","author":"Scott","year":"1993","journal-title":"J. Am. Acad. Dermatol."},{"key":"10.1016\/j.mad.2009.07.006_bib91","first-page":"300","article-title":"Cockayne syndrome\u2014an audiologic and temporal bone analysis","volume":"5","author":"Shemen","year":"1984","journal-title":"Am. J. Otol."},{"key":"10.1016\/j.mad.2009.07.006_bib92","first-page":"871","article-title":"Cockayne's syndrome presenting cerebral ischemic attack: case report","volume":"38","author":"Shirasaki","year":"1986","journal-title":"No To Shinkei"},{"key":"10.1016\/j.mad.2009.07.006_bib93","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/0303-8467(83)90044-6","article-title":"Calcium-phosphate metabolism in autosomal recessive idiopathic strio-pallido-dentate calcinosis and Cockayne's syndrome","volume":"85","author":"Smits","year":"1983","journal-title":"Clin. Neurol. Neurosurg."},{"key":"10.1016\/j.mad.2009.07.006_bib94","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1055\/s-2008-1059617","article-title":"Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings","volume":"13","author":"Smits","year":"1982","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.mad.2009.07.006_bib95","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ana.410060407","article-title":"Cockayne syndrome: unusual neuropathological findings and review of the literature","volume":"6","author":"Soffer","year":"1979","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib96","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.ejpn.2007.11.010","article-title":"Aicardi-Goutieres syndrome AGS","volume":"12","author":"Stephenson","year":"2008","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"10.1016\/j.mad.2009.07.006_bib97","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.mad.2008.04.009","article-title":"The role of Cockayne Syndrome group B CSB protein in base excision repair and aging","volume":"129","author":"Stevnsner","year":"2008","journal-title":"Mech. Ageing Dev."},{"key":"10.1016\/j.mad.2009.07.006_bib98","doi-asserted-by":"crossref","first-page":"8675","DOI":"10.1038\/sj.onc.1205994","article-title":"Mitochondrial repair of 8-oxoguanine is deficient in Cockayne syndrome group B","volume":"21","author":"Stevnsner","year":"2002","journal-title":"Oncogene"},{"key":"10.1016\/j.mad.2009.07.006_bib99","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1177\/000992287701600304","article-title":"Cockayne syndrome: clinical study of two patients and neuropathologic findings in one","volume":"16","author":"Sugarman","year":"1977","journal-title":"Clin. Pediatr."},{"key":"10.1016\/j.mad.2009.07.006_bib100","first-page":"64","article-title":"Cockayne's syndrome: report of two autopsy cases associated with neurofibrillary tangles","volume":"5","author":"Takada","year":"1986","journal-title":"Clin. Neuropathol."},{"issue":"1","key":"10.1016\/j.mad.2009.07.006_bib101","doi-asserted-by":"crossref","first-page":"e2","DOI":"10.1371\/journal.pbio.0050002","article-title":"Impaired genome maintenance suppresses the growth hormone\u2014insulin-like growth factor 1 axis in mice with Cockayne syndrome","volume":"5","author":"van der Pluijm","year":"2007","journal-title":"PLoS Biol."},{"key":"10.1016\/j.mad.2009.07.006_bib102","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/BF00697396","article-title":"The neuropathy of Cockayne syndrome","volume":"61","author":"Vos","year":"1983","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.mad.2009.07.006_bib103","doi-asserted-by":"crossref","first-page":"S296","DOI":"10.1542\/peds.2005-2633I","article-title":"American College of Medical Genetics Newborn Screening Expert Group, Newborn screening: toward a uniform screening panel and system\u2014executive summary","volume":"117","author":"Watson","year":"2006","journal-title":"Pediatrics"}],"container-title":["Mechanisms of Ageing and Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0047637409001067?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0047637409001067?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T02:05:48Z","timestamp":1685066748000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0047637409001067"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,9]]},"references-count":103,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["S0047637409001067"],"URL":"https:\/\/doi.org\/10.1016\/j.mad.2009.07.006","relation":{},"ISSN":["0047-6374"],"issn-type":[{"value":"0047-6374","type":"print"}],"subject":[],"published":{"date-parts":[[2009,9]]}}}