Cockayne-Syndrom (German Wikipedia)

Analysis of information sources in references of the Wikipedia article "Cockayne-Syndrom" in German language version.

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aerztezeitung.de

amyandfriends.org

clinicaltrials.gov

cockaynesyndrome.org

deadurl.invalid

  • Björn Schumacher erhält Eva Luise Köhler Forschungspreis 2019: Seltene Erkrankungen geben Einblick in Geheimnis des Alterns. 18. Februar 2019, ehemals im Original (nicht mehr online verfügbar); abgerufen am 31. Mai 2020.@1@2Vorlage:Toter Link/www.cecad.uni-koeln.de (Seite nicht mehr abrufbar. Suche in Webarchiven)

doi.org

  • Martha A. Nance, Susan A. Berry: Cockayne syndrome: Review of 140 cases. In: American Journal of Medical Genetics. Band 42, Nr. 1, 1992, ISSN 1096-8628, S. 68–84, doi:10.1002/ajmg.1320420115.
  • Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band 18, Nr. 5, Mai 2016, ISSN 1530-0366, S. 483–493, doi:10.1038/gim.2015.110, PMID 26204423.
  • Vincent Laugel: Cockayne syndrome: The expanding clinical and mutational spectrum. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band 134, Nr. 5, 1. Mai 2013, ISSN 0047-6374, S. 161–170, doi:10.1016/j.mad.2013.02.006.
  • L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band 91, Nr. 2, 1. Februar 2006, ISSN 0003-9888, S. 178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
  • Valerie Natale: A comprehensive description of the severity groups in Cockayne syndrome. In: American Journal of Medical Genetics Part A. Band 155, Nr. 5, 2011, ISSN 1552-4833, S. 1081–1095, doi:10.1002/ajmg.a.33933.
  • E. A. Cockayne: Dwarfism with retinal atrophy and deafness. In: Archives of Disease in Childhood. Band 11, Nr. 61, 1. Februar 1936, ISSN 0003-9888, S. 1–8, doi:10.1136/adc.11.61.1, PMID 21032019.
  • Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band 25, Nr. 123, 1. September 1950, ISSN 0003-9888, S. 213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
  • Debora Ferri, Donata Orioli, Elena Botta: Heterogeneity and overlaps in nucleotide excision repair disorders. In: Clinical Genetics. Band 97, Nr. 1, 2020, ISSN 1399-0004, S. 12–24, doi:10.1111/cge.13545.
  • Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band 16, Nr. 14, 15. Juli 1997, ISSN 0261-4189, S. 4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
  • Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band 33, 1. Januar 2017, ISSN 1568-1637, S. 3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
  • Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band 134, Nr. 5, 1. Mai 2013, ISSN 0047-6374, S. 275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
  • Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band 141, 1. April 2023, ISSN 0887-8994, S. 79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).
  • Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band 8, Nr. 1, 14. Januar 2013, ISSN 1750-1172, S. 9, doi:10.1186/1750-1172-8-9, PMID 23311583.
  • Sarah Baer, Nicolas Tuzin, Peter B. Kang, Shehla Mohammed, Masaya Kubota: Growth charts in Cockayne syndrome type 1 and type 2. In: European Journal of Medical Genetics. Band 64, Nr. 1, Januar 2021, S. 104105, doi:10.1016/j.ejmg.2020.104105 (elsevier.com [abgerufen am 4. Februar 2021]).
  • V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. In: Human Mutation. Band 31, Nr. 2, 2010, ISSN 1098-1004, S. 113–126, doi:10.1002/humu.21154.
  • Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band 136, Nr. 3, 1. September 2015, ISSN 0031-4005, S. e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
  • Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant: Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case. In: Journal of Child Neurology. Band 21, Nr. 11, November 2006, ISSN 0883-0738, S. 991–1006, doi:10.1177/08830738060210110101.
  • Masaya Kubota, Sayaka Ohta, Aki Ando, Akiko Koyama, Hiroshi Terashima: Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. In: Pediatrics International. Band 57, Nr. 3, 2015, ISSN 1442-200X, S. 339–347, doi:10.1111/ped.12635.
  • Wim J. Kleijer, Vincent Laugel, Mark Berneburg, Tiziana Nardo, Heather Fawcett: Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: DNA Repair. Band 7, Nr. 5, 3. Mai 2008, ISSN 1568-7864, S. 744–750, doi:10.1016/j.dnarep.2008.01.014.
  • Morad Khayat, Hagar Hardouf, Joel Zlotogora, Stavit Allon Shalev: High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. In: American Journal of Medical Genetics Part A. 152A, Nr. 12, Dezember 2010, S. 3091–3094, doi:10.1002/ajmg.a.33746 (wiley.com [abgerufen am 9. Februar 2021]).
  • Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr. 11, 2008, ISSN 1552-4833, S. 1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).
  • Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band 23, Nr. 6, 8. Mai 2018, ISSN 2211-1247, S. 1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.

elsevier.com

linkinghub.elsevier.com

  • Sarah Baer, Nicolas Tuzin, Peter B. Kang, Shehla Mohammed, Masaya Kubota: Growth charts in Cockayne syndrome type 1 and type 2. In: European Journal of Medical Genetics. Band 64, Nr. 1, Januar 2021, S. 104105, doi:10.1016/j.ejmg.2020.104105 (elsevier.com [abgerufen am 4. Februar 2021]).

mementoweb.org

timetravel.mementoweb.org

  • Björn Schumacher erhält Eva Luise Köhler Forschungspreis 2019: Seltene Erkrankungen geben Einblick in Geheimnis des Alterns. 18. Februar 2019, ehemals im Original (nicht mehr online verfügbar); abgerufen am 31. Mai 2020.@1@2Vorlage:Toter Link/www.cecad.uni-koeln.de (Seite nicht mehr abrufbar. Suche in Webarchiven)

nics-online.org

nih.gov

ncbi.nlm.nih.gov

  • Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band 18, Nr. 5, Mai 2016, ISSN 1530-0366, S. 483–493, doi:10.1038/gim.2015.110, PMID 26204423.
  • L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band 91, Nr. 2, 1. Februar 2006, ISSN 0003-9888, S. 178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
  • E. A. Cockayne: Dwarfism with retinal atrophy and deafness. In: Archives of Disease in Childhood. Band 11, Nr. 61, 1. Februar 1936, ISSN 0003-9888, S. 1–8, doi:10.1136/adc.11.61.1, PMID 21032019.
  • E. A. Cockayne: Dwarfism with Retinal Atrophy and Deafness. In: Archives of Disease in Childhood. Band 21, Nr. 105, März 1946, ISSN 0003-9888, S. 52–54, PMC 1987981 (freier Volltext).
  • Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band 25, Nr. 123, 1. September 1950, ISSN 0003-9888, S. 213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
  • Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band 16, Nr. 14, 15. Juli 1997, ISSN 0261-4189, S. 4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
  • Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band 33, 1. Januar 2017, ISSN 1568-1637, S. 3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
  • Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band 134, Nr. 5, 1. Mai 2013, ISSN 0047-6374, S. 275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
  • Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band 8, Nr. 1, 14. Januar 2013, ISSN 1750-1172, S. 9, doi:10.1186/1750-1172-8-9, PMID 23311583.
  • Vincent Laugel: Cockayne Syndrome. In: GeneReviews®. University of Washington, Seattle, Seattle (WA) 1993, PMID 20301516 (nih.gov [abgerufen am 31. Mai 2020]).
  • Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band 136, Nr. 3, 1. September 2015, ISSN 0031-4005, S. e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
  • Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band 23, Nr. 6, 8. Mai 2018, ISSN 2211-1247, S. 1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.

redirecter.toolforge.org

  • Björn Schumacher erhält Eva Luise Köhler Forschungspreis 2019: Seltene Erkrankungen geben Einblick in Geheimnis des Alterns. 18. Februar 2019, ehemals im Original (nicht mehr online verfügbar); abgerufen am 31. Mai 2020.@1@2Vorlage:Toter Link/www.cecad.uni-koeln.de (Seite nicht mehr abrufbar. Suche in Webarchiven)

riaanresearch.org

sciencedirect.com

  • Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band 141, 1. April 2023, ISSN 0887-8994, S. 79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).

uni-koeln.de

cecad.uni-koeln.de

  • Björn Schumacher erhält Eva Luise Köhler Forschungspreis 2019: Seltene Erkrankungen geben Einblick in Geheimnis des Alterns. 18. Februar 2019, ehemals im Original (nicht mehr online verfügbar); abgerufen am 31. Mai 2020.@1@2Vorlage:Toter Link/www.cecad.uni-koeln.de (Seite nicht mehr abrufbar. Suche in Webarchiven)

uni-ulm.de

wiley.com

doi.wiley.com

  • Morad Khayat, Hagar Hardouf, Joel Zlotogora, Stavit Allon Shalev: High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. In: American Journal of Medical Genetics Part A. 152A, Nr. 12, Dezember 2010, S. 3091–3094, doi:10.1002/ajmg.a.33746 (wiley.com [abgerufen am 9. Februar 2021]).

onlinelibrary.wiley.com

  • Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr. 11, 2008, ISSN 1552-4833, S. 1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).

zdb-katalog.de

  • Martha A. Nance, Susan A. Berry: Cockayne syndrome: Review of 140 cases. In: American Journal of Medical Genetics. Band 42, Nr. 1, 1992, ISSN 1096-8628, S. 68–84, doi:10.1002/ajmg.1320420115.
  • Brian T. Wilson, Zornitza Stark, Ruth E. Sutton, Sumita Danda, Alka V. Ekbote: The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. In: Genetics in Medicine. Band 18, Nr. 5, Mai 2016, ISSN 1530-0366, S. 483–493, doi:10.1038/gim.2015.110, PMID 26204423.
  • Vincent Laugel: Cockayne syndrome: The expanding clinical and mutational spectrum. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band 134, Nr. 5, 1. Mai 2013, ISSN 0047-6374, S. 161–170, doi:10.1016/j.mad.2013.02.006.
  • L. Pasquier, V. Laugel, L. Lazaro, H. Dollfus, H. Journel: Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. In: Archives of Disease in Childhood. Band 91, Nr. 2, 1. Februar 2006, ISSN 0003-9888, S. 178–182, doi:10.1136/adc.2005.080473, PMID 16428367.
  • Valerie Natale: A comprehensive description of the severity groups in Cockayne syndrome. In: American Journal of Medical Genetics Part A. Band 155, Nr. 5, 2011, ISSN 1552-4833, S. 1081–1095, doi:10.1002/ajmg.a.33933.
  • E. A. Cockayne: Dwarfism with retinal atrophy and deafness. In: Archives of Disease in Childhood. Band 11, Nr. 61, 1. Februar 1936, ISSN 0003-9888, S. 1–8, doi:10.1136/adc.11.61.1, PMID 21032019.
  • E. A. Cockayne: Dwarfism with Retinal Atrophy and Deafness. In: Archives of Disease in Childhood. Band 21, Nr. 105, März 1946, ISSN 0003-9888, S. 52–54, PMC 1987981 (freier Volltext).
  • Catherine A. Neill, Mary M. Dingwall: A Syndrome Resembling Progeria: A Review of Two Cases. In: Archives of Disease in Childhood. Band 25, Nr. 123, 1. September 1950, ISSN 0003-9888, S. 213–223, doi:10.1136/adc.25.123.213, PMID 14783428.
  • Debora Ferri, Donata Orioli, Elena Botta: Heterogeneity and overlaps in nucleotide excision repair disorders. In: Clinical Genetics. Band 97, Nr. 1, 2020, ISSN 1399-0004, S. 12–24, doi:10.1111/cge.13545.
  • Alain J. van Gool, Gijsbertus T. J. van der Horst, Elisabetta Citterio, Jan H. J. Hoeijmakers: Cockayne syndrome: defective repair of transcription? In: The EMBO Journal. Band 16, Nr. 14, 15. Juli 1997, ISSN 0261-4189, S. 4155–4162, doi:10.1093/emboj/16.14.4155, PMID 9250659.
  • Ajoy C. Karikkineth, Morten Scheibye-Knudsen, Elayne Fivenson, Deborah L. Croteau, Vilhelm A. Bohr: Cockayne syndrome: Clinical features, model systems and pathways. In: Ageing Research Reviews (= Monogenic Accelerated Aging Disorders with Perturbations to Normal DNA and Chromosome Function). Band 33, 1. Januar 2017, ISSN 1568-1637, S. 3–17, doi:10.1016/j.arr.2016.08.002, PMID 27507608.
  • Morten Scheibye-Knudsen, Deborah L. Croteau, Vilhelm A. Bohr: Mitochondrial deficiency in Cockayne syndrome. In: Mechanisms of Ageing and Development (= Special Issue on the segmental progeria Cockayne syndrome). Band 134, Nr. 5, 1. Mai 2013, ISSN 0047-6374, S. 275–283, doi:10.1016/j.mad.2013.02.007, PMID 23435289.
  • Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang: The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. In: Pediatric Neurology. Band 141, 1. April 2023, ISSN 0887-8994, S. 79–86, doi:10.1016/j.pediatrneurol.2023.01.011 (sciencedirect.com [abgerufen am 11. April 2023]).
  • Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis: A possible cranio-oro-facial phenotype in Cockayne syndrome. In: Orphanet Journal of Rare Diseases. Band 8, Nr. 1, 14. Januar 2013, ISSN 1750-1172, S. 9, doi:10.1186/1750-1172-8-9, PMID 23311583.
  • V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen: Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. In: Human Mutation. Band 31, Nr. 2, 2010, ISSN 1098-1004, S. 113–126, doi:10.1002/humu.21154.
  • Brian T. Wilson, Andrew Strong, Sean O’Kelly, Jennifer Munkley, Zornitza Stark: Metronidazole Toxicity in Cockayne Syndrome: A Case Series. In: Pediatrics. Band 136, Nr. 3, 1. September 2015, ISSN 0031-4005, S. e706–e708, doi:10.1542/peds.2015-0531, PMID 26304821.
  • Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant: Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case. In: Journal of Child Neurology. Band 21, Nr. 11, November 2006, ISSN 0883-0738, S. 991–1006, doi:10.1177/08830738060210110101.
  • Masaya Kubota, Sayaka Ohta, Aki Ando, Akiko Koyama, Hiroshi Terashima: Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. In: Pediatrics International. Band 57, Nr. 3, 2015, ISSN 1442-200X, S. 339–347, doi:10.1111/ped.12635.
  • Wim J. Kleijer, Vincent Laugel, Mark Berneburg, Tiziana Nardo, Heather Fawcett: Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. In: DNA Repair. Band 7, Nr. 5, 3. Mai 2008, ISSN 1568-7864, S. 744–750, doi:10.1016/j.dnarep.2008.01.014.
  • Tzipora C. Falik‐Zaccai, Meital Laskar, Nechama Kfir, Wael Nasser, Hanoch Slor: Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. In: American Journal of Medical Genetics Part A. 146A, Nr. 11, 2008, ISSN 1552-4833, S. 1423–1429, doi:10.1002/ajmg.a.32309 (wiley.com [abgerufen am 9. Februar 2021]).
  • Marius Costel Alupei, Pallab Maity, Philipp Ralf Esser, Ioanna Krikki, Francesca Tuorto: Loss of Proteostasis Is a Pathomechanism in Cockayne Syndrome. In: Cell Reports. Band 23, Nr. 6, 8. Mai 2018, ISSN 2211-1247, S. 1612–1619, doi:10.1016/j.celrep.2018.04.041, PMID 29742419.