Daniela Rusconi

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Daniela Rusconi, Gloria Negri, Patrizia Colapietro et al. · Human Genetics · 2015 · 86 citations

Molecular Neuroscience, Rubinstein–taybi Syndrome, Disease Mechanism +9

Erythroid differentiation and maturation from peripheral CD34+ cells in liquid culture: Cellular and molecular characterization

Luisa Ronzoni, P. Bonara, Daniela Rusconi et al. · Blood Cells Molecules and Diseases · 2007 · 45 citations

Peripheral Cd34+ Cells, Developmental Biology, Lymphocyte Development +14

From Whole Gene Deletion to Point Mutations of<i>EP300</i>-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Gloria Negri, Pamela Magini, Donatella Milani et al. · Human Mutation · 2015 · 40 citations

Rubinstein-taybi Syndrome, Genetics, Motor Development +20

Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations

Nicola Ticozzi, Cinzia Tiloca, Niccolò E. Mencacci et al. · Journal of Neurology · 2012 · 28 citations · Full text

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Disease-associated Mutations +7

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

Palma Finelli, Silvia Maria Sirchia, Maura Masciadri et al. · Molecular Cytogenetics · 2012 · 28 citations · Full text