Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras R et al.
Human Mutation, 2014
Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
Herholz J et al.
European Journal of Human Genetics : Ejhg, 2011
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.
Hahn AF et al.
Journal of the Neurological Sciences, 2010
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Yamazaki M et al.
American Journal of Medical Genetics. Part A, 2010
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Crisponi L et al.
American Journal of Human Genetics, 2007
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.
Hahn AF et al.
Journal of the Neurological Sciences, 2006
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