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Stem Cell Research|June 4, 2020
Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individualLara Schöning, Niki Tomas Loges, Yvonne Nitschke, et al.The Journal of Nutritional Biochemistry|January 18, 2015
Postprandial triglyceride-rich lipoproteins regulate perilipin-2 and perilipin-3 lipid-droplet-associated proteins in macrophagesLourdes M Varela, Sergio López, Almudena Ortega-Gómez, et al.Clinical Genetics|September 10, 2019
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment conceptsInsa Buers, Ivana Persico, Lara Schöning, et al.American Journal of Human Genetics|January 27, 2015
A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndromeFrank Rutsch, Mary MacDougall, Changming Lu, et al.Nature Genetics|January 13, 2009
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolismFrank Rutsch, Susann Gailus, Isabelle R Miousse, et al.Clinical Genetics|March 13, 2019
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnosesAndrea Angius, Paolo Uva, Manuela Oppo, et al.Nature Genetics|August 28, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismDavid Coelho, Jaeseung C Kim, Isabelle R Miousse, et al.American Journal of Human Genetics|July 9, 2016
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis PigmentosaAndrea Angius, Paolo Uva, Insa Buers, et al.Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.Pageof 3