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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020;40(11):2251-2263

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, M C Vincent, L Pasquier, S Odent, V Cormier-Daire, B Gener, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, D Heron, H Journel, E Raffo, J Vigneron, S Lyonnet, V Murday, D Gubser-Mercati, B Funalot, L Brueton, J Sanchez Del Pozo, E Muñoz, A R Gennery, M Salih, M Noruzinia, K Prescott, L Ramos, Z Stark, K Fieggen, B Chabrol, P Sarda, P Edery, A Bloch-Zupan, H Fawcett, D Pham, J M Egly, A R Lehmann, A Sarasin, H Dollfus

Human mutation 2010;31(2):113-26

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Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.

Y Lindenbaum, D Dickson, P Rosenbaum, K Kraemer, I Robbins, I Rapin

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2002;5(6):225-42

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Mitochondrial dysfunction: a neglected component of skin diseases.

René G Feichtinger, Wolfgang Sperl, Johann W Bauer, Barbara Kofler

Experimental dermatology 2016;23(9):607-14

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Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase.

Monica Ropolo, Paolo Degan, Mara Foresta, Mariarosaria D'Errico, Denise Lasigliè, Eugenia Dogliotti, Gianluigi Casartelli, Simonetta Zupo, Alessandro Poggi, Guido Frosina

Free radical biology & medicine 2007;42(12):1807-17

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Results for ""Cockayne Syndrome""[mesh_terms]

Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis.

Nucleotide excision repair and cancer.

Disease-causing missense mutations in human DNA helicase disorders.

Cockayne syndrome: the expanding clinical and mutational spectrum.

Xeroderma pigmentosum--bridging a gap between clinic and laboratory.

Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.

WD-repeat proteins: structure characteristics, biological function, and their involvement in human diseases.

Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.

Mitochondrial dysfunction: a neglected component of skin diseases.

Complementation of the oxidatively damaged DNA repair defect in Cockayne syndrome A and B cells by Escherichia coli formamidopyrimidine DNA glycosylase.

Results for
""Cockayne Syndrome""[mesh_terms]