| 2020 |
Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, Hall IF, Villa A, Sobacchi C, Colombi M. Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. Bone. November 2020;140:115571. |
0 |
0 |
| 2022 |
Palagano E, Slatter MA, Uva P, Menale C, Villa A, Abinun M, Sobacchi C. Corrigendum to “Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene” [Bone 97. 2017 Apr:126–129. doi:10.1016/j.bone.2017.01.012.]. Bone. May 2022;158:116345. |
0 |
0 |
| 2022 |
Capo V, Abinun M, Villa A. Osteoclast rich osteopetrosis due to defects in the TCIRG1 gene. Bone. December 2022;165:116519. |
0 |
0 |
| 2021 |
Di Zanni E, Palagano E, Lagostena L, Strina D, Rehman A, Abinun M, De Somer L, Martire B, Brown J, Kariminejad A, Balasubramaniam S, Baynam G, Gurrieri F, Pisanti MA, De Maggio I, Abboud MR, Chiesa R, Burren CP, Villa A, Sobacchi C, Picollo A. Pathobiologic mechanisms of neurodegeneration in osteopetrosis derived from structural and functional analysis of 14 ClC‐7 mutants. J Bone Miner Res. March 2021;36(3):531-545. |
2 |
2 |
| 2013 |
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. September 2013;9(9):522-536. |
26 |
24 |