Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKLCristina Sobacchi, Miep Helfrich, Andrea Del Fattore et al.|Nature Genetics|2007Cited by 387
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) MutationsMatteo M. Guerrini, Annalisa Frattini, Cristina Sobacchi et al.|The American Journal of Human Genetics|2008Cited by 307
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansLiesbeth Van Wesenbeeck, Wim Van Hul, Paul R. Odgren et al.|Journal of Clinical Investigation|2007Cited by 235
Nephrogenic Diabetes InsipidusElena Albertazzi, Bice Chini, Deborah Zanchetta et al.|Journal of the American Society of Nephrology|2000Cited by 55
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman–Diamond Syndrome SubjectsAnnalisa Frattini, Isabella Villa|International Journal of Molecular Sciences|2021Cited by 11