Alessandra Bolino
Vita-Salute San Raffaele University(IT)Mylan (South Africa)(ZA)Neuroscience Institute(IT)IRCCS Ospedale San Raffaele(IT)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Cellular transport and secretion, RNA regulation and disease, Ubiquitin and proteasome pathways, Congenital gastrointestinal and neural anomalies
Most-Cited Works
- → Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene(1998)757 cited
- → A common molecular basis for three inherited kidney stone diseases(1996)721 cited
- → Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2(2000)457 cited
- → 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(2003)302 cited
- RET mutations in exons 13 and 14 of FMTC patients.(1995)
- → A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10(1993)192 cited
- → Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis