User profiles for Andrea Calvo
Andrea CalvoAssociate Professor of Neurology, 'Rita Levi Montalcini' Department of Neuroscience … Verified email at unito.it Cited by 20564 |
Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model
Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor
neuron disease with a variable natural history. There are no accurate models that predict the …
neuron disease with a variable natural history. There are no accurate models that predict the …
[PDF][PDF] Exome sequencing reveals VCP mutations as a cause of familial ALS
Using exome sequencing, we identified a p.R191Q amino acid change in the valosin-containing
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …
protein (VCP) gene in an Italian family with autosomal dominantly inherited amyotrophic …
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …
Cognitive correlates in amyotrophic lateral sclerosis: a population-based study in Italy
Background There is less data available regarding the characteristics of cognitive
impairment in patients with amyotrophic lateral sclerosis (ALS) in a population-based series. …
impairment in patients with amyotrophic lateral sclerosis (ALS) in a population-based series. …
A cross sectional study on determinants of quality of life in ALS
Background: Understanding the determinants of quality of life (QoL) in amyotrophic lateral
sclerosis (ALS) has become increasingly important with the recent emphasis on the …
sclerosis (ALS) has become increasingly important with the recent emphasis on the …
[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
…, G Mora, M Corbo, F Giannini, A Calvo… - The Lancet …, 2012 - thelancet.com
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic …
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
…, VE Drory, G Borghero, G Mora, A Calvo… - Nature …, 2014 - nature.com
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 …
linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome …
Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
Background Different amyotrophic lateral sclerosis (ALS) phenotypes have been recognised,
marked by a varying involvement of spinal and bulbar upper and lower motor neurons. …
marked by a varying involvement of spinal and bulbar upper and lower motor neurons. …
[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
[HTML][HTML] Projected increase in amyotrophic lateral sclerosis from 2015 to 2040
Although amyotrophic lateral sclerosis (ALS) is relatively rare, the socioeconomic significance
of the disease is extensive. It is therefore vital to project the epidemiologic trend of ALS. To …
of the disease is extensive. It is therefore vital to project the epidemiologic trend of ALS. To …