S. P. Lucia

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

Cristina Sobacchi, Annalisa Frattini, Matteo M. Guerrini et al. · Nature Genetics · 2007 · 378 citations

Bone Disease, Sclerostin, Developmental Biology +9

Chloride Channel <i>ClCN7</i> Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

Annalisa Frattini, Alessandra Pangrazio, S. P. Lucia et al. · Journal of Bone and Mineral Research · 2003 · 224 citations · Full text

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

Ekaterina Revenkova, Maria Luisa Focarelli, S. P. Lucia et al. · Human Molecular Genetics · 2008 · 107 citations · Full text

Chromatin, Genome Instability, Mendelian Disorder +15

TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA

S. P. Lucia, Alessandra Pangrazio, Cristina Sobacchi et al. · Human Mutation · 2004 · 92 citations

<i>SNX10</i> mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

Alessandra Pangrazio, Anders Fasth, Andrea Sbardellati et al. · Journal of Bone and Mineral Research · 2012 · 68 citations · Full text