A. Calvo

Publications190
h-index48
Citations8,217
Highly Influential Citations462
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Summary 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 lateral… Expand
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Janel O. Johnson,1,22 Jessica Mandrioli,4,22 Michael Benatar,5,22 Yevgeniya Abramzon,1,22 Vivianna M. Van Deerlin,6 JohnQ. Trojanowski,6 J. Raphael Gibbs,2,8 Maura Brunetti,9 Susan Gronka,5… Expand
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Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
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… Expand
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SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
Objective: There is increasing evidence that common genetic risk factors underlie frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS). Recently, mutations in the… Expand
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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. However, the differential… Expand
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A longitudinal study on quality of life and depression in ALS patient–caregiver couples
Objectives: To evaluate the modification of quality of life (QoL) and depression in a series of amyotrophic lateral sclerosis (ALS) patient–caregiver couples during a period of 9 months and compare… Expand
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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. Methodology Patients… Expand
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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 comprehensive management… Expand
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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 lateral sclerosis… Expand
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ALS in Italian professional soccer players: The risk is still present and could be soccer-specific
We previously found an increased risk for ALS in Italian professional soccer players actively engaged between 1970 and 2001 (n =7325). The present study extends previous work with a prospective… Expand
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