Associated Papers
Genetics of Darier's Disease: New Insights into Pathogenic Mechanisms.
Moschella B et al.
Genes, 2025
40565511 (PubMed )
Supplement: genes-16-00619-s001.zip › genes-3647767-supplementary.xlsx › Foglio1
Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype.
Gordon-Smith K et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
Novel mutations in Darier disease and association to self-reported disease severity.
Leong IUS et al.
Plos One, 2017
Novel ATP2A2 mutations in a large sample of individuals with Darier disease.
Green EK et al.
The Journal of Dermatology, 2013
Comprehensive analysis of expression and function of 51 sarco(endo)plasmic reticulum Ca2+-ATPase mutants associated with Darier disease.
Miyauchi Y et al.
The Journal of Biological Chemistry, 2006
Mutations in ATP2A2 in patients with Darier's disease.
Ikeda S et al.
The Journal of Investigative Dermatology, 2003
Hailey-Hailey disease: molecular and clinical characterization of novel mutations in the ATP2C1 gene.
Dobson-Stone C et al.
The Journal of Investigative Dermatology, 2002
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation.
Ringpfeil F et al.
Experimental Dermatology, 2001
ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes.
Jacobsen NJ et al.
Human Molecular Genetics, 1999
Structure-function relationships in the Ca(2+)-binding and translocation domain of SERCA1: physiological correlates in Brody disease.
MacLennan DH et al.
Acta Physiologica Scandinavica. Supplementum, 1998
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