Alessandra Bolino

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, Kotb Abdelmohsen, Akihisa Abe et al. · Autophagy · 2016 · 5.9K citations · Full text

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey, Robert A. Brooksbank, Oliver Brandau et al. · Nature Genetics · 1998 · 754 citations

Host Response, Sh2-domain Encoding Gene, Molecular Virology +8

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 717 citations · Full text

Urology, Genetic Disorder, Common Molecular Basis +10

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2

Alessandra Bolino, M. Muglia, F. L. Conforti et al. · Nature Genetics · 2000 · 457 citations

Myotubularin-related Protein-2, Mendelian Disorder, Genetic Disorder +7

Mutations in MTMR13, a New Pseudophosphatase Homologue of MTMR2 and Sbf1, in Two Families with an Autosomal Recessive Demyelinating Form of Charcot-Marie-Tooth Disease Associated with Early-Onset Glaucoma

Hamid Azzedine, Alessandra Bolino, T. Taïeb et al. · The American Journal of Human Genetics · 2003 · 301 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9