SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
S Zampieri, M Filocamo, A Pianta, S Lualdi, L Gort, MJ Coll, R Sinnott, T Geberhiwot, B Bembi, A Dardis
Human Mutation | Wiley: 12 months | Published : 2016
Awarded by "Cell Line and DNA Biobank from patients affected by Genetic Diseases" (Istituto Giannina Gaslini), member of Telethon Network of Genetic Biobanks
We would like to thank the members of the Niemann-Pick Disease Registry (NPDR) Consortium: Toni Mathieson (Niemann-Pick Disease Group - UK); Jim Green and Miriam Evans (European section of the International Niemann-Pick Disease Alliance (INPDA); Ellen Crushell and Eithna Lofty (Children's University Hospital, Dublin); Eugen Mengel, Hans Klunemann, Lisa Peintinger, Pascal Webber, Miriam Stampfer(Niemann-Pick Selbsthilfe-gruppe Deutschland, Germany); Martin HrebIcek (First Faculty of Medicine, Czech Republic); Isabel Hontanilla, Enrique Pilar, Mercedes Pineda (Fundacion Niemann-Pick de Espana, Spain); Marie T. Vanier (INSERM Unit 820, Lyon, France). Some samples were obtained from the "Cell Line and DNA Biobank from patients affected by Genetic Diseases" (Istituto Giannina Gaslini), member of Telethon Network of Genetic Biobanks (project no. GTB12001).