Rapid procedures for prenatal diagnosis of Cockayne syndrome [PDF]
, 1983 Kazuhiko Kawai +5 more
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Premature aging in genetic diseases: what conclusions can be drawn for physiological aging
Frontiers in AgingAccording to current views the major hallmarks of physiological aging may be subdivided into three categories, primary causes of cellular damage (genomic instability, telomere attrition, loss of proteostasis, epigenetic alterations and compromised ...
Filip Milosic +2 more
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A Case of ERCC6-Related Cockayne Syndrome Presenting with Levodopa-Responsive Tremor Syndrome. [PDF]
Mov Disord Clin Pract, 2023 Salari M +3 more
europepmc +1 more source
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene [PDF]
, 2018 Alain Chebly +5 more
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Developmental defects and male sterility in mice lacking the ubiquitin-like DNA repair gene mHR23B. [PDF]
, 2002 mHR23B encodes one of the two mammalian homologs of Saccharomyces cerevisiae RAD23, a ubiquitin-like fusion protein involved in nucleotide excision repair (NER). Part of mHR23B is complexed with the XPC protein, and this heterodimer functions as the main
Beems, R.B. (Rudolf) +11 more
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Cockayne syndrome: a diffusion tensor imaging and volumetric study
, 2016 Mériam Koob +6 more
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Iranian Journal of Child Neurology, 2014 How to Cite This Article: Javadzadeh M. Cockayne Syndrome. Iran J Child Neurol. Autumn 2014;8;4(Suppl.1):18-19. pls see pdf.
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Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. [PDF]
Intern Med, 2023 Takahashi N +7 more
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Dermatologic Findings in 16 Patients With Cockayne Syndrome and Cerebro-Oculo-Facial-Skeletal Syndrome [PDF]
, 2013 É. Frouin +4 more
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