Giuseppe Bonapace

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

Gul N. Shah, Giuseppe Bonapace, Peiyi Hu et al. · Human Mutation · 2004 · 126 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa

George Rebello, Raj Ramesar, Alvera Vorster et al. · Proceedings of the National Academy of Sciences · 2004 · 114 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV

Rupak Datta, Abdül Waheed, Giuseppe Bonapace et al. · Proceedings of the National Academy of Sciences · 2009 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17

Giuseppe Bonapace, Abdül Waheed, Gul N. Shah et al. · Proceedings of the National Academy of Sciences · 2004 · 71 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +14

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Iris Scala, Daniela Concolino, Roberto Della Casa et al. · Orphanet Journal of Rare Diseases · 2015 · 37 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +13