Antonella Manca

<i>BRAF/NRAS</i> Mutation Frequencies Among Primary Tumors and Metastases in Patients With Melanoma

Maria Colombino, Mariaelena Capone, Amelia Lissia et al. · Journal of Clinical Oncology · 2012 · 453 citations · Full text

Fragile X syndrome without CCG amplification has an FMR1 deletion

Ági K. Gedeon, Emma K. Baker, Harriet L. Robinson et al. · Nature Genetics · 1992 · 218 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Doris Wöhrle, Dieter Kotzot, Mark C. Hirst et al. · PubMed · 1992 · 173 citations

Alternative splicing in the fragile X gene <i>FMR1</i>

Annemieke J.M.H. Verkerk, Esther de Graaff, Kristel De Boulle et al. · Human Molecular Genetics · 1993 · 135 citations · Full text

Fmr1 Gene, Genetic Disorder, Natural Sciences +15

NH2-truncated human tau induces deregulated mitophagy in neurons by aberrant recruitment of Parkin and UCHL-1: implications in Alzheimer's disease

Veronica Corsetti, Fulvio Florenzano, Anna Atlante et al. · Human Molecular Genetics · 2015 · 120 citations · Full text