0000000001246357
AUTHOR
A. Sotgiu
showing 3 related works from this author
C9ORF72 in a Large Series of Italian and Sardinian Familial and Sporadic ALS Patients (IN9-1.003)
2012
Objective: To assess the frequency and the phenotype of a large series of Italian sALS and fALS with C9ORF72 repeat expansions. Background Recently we found that large expansions of hexanucleotide repeats (GGGGCC) in the first intron of the C9ORF72 gene, located in the chromosome 9p21, are related to familial and sporadic ALS cases(Renton et al, 2011). Design/Methods: We assessed 126 index fALS (106 Italians, 20 of Sardinians) and 601 sALS (485 Italians, 116 Sardinians), negative for other ALS-related genes mutations. Patients were collected through the ITALSGEN consortium. Repeat primer PCR to screen the presence of the hexanucleotide expansion in the first intron of C9ORF72 have been perf…
Professional competencies in health promotion and public health: what is common and what is specific? Review of the European debate and perspectives …
2015
According to the Nairobi Call to Action, the growth of practitioners' skills can be favoured by setting accreditation standards and by reorienting professional competencies of current and future health workers. This will make it possible to develop a critical mass of competent practitioners, foster training, and increase visibility of the professional field. Through a review of the literature, the authors offer an overview of competency-based strategies for professional development in health promotion. The main research questions discussed were as follows: Is there a shared definition of public health?; Is there a shared definition of health promotion?; Who are the main stakeholders for pub…
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.
2013
MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. © 2014 Nature America, Inc. All rights reserved.