• Publications
  • Influence
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 lateralExpand
  • 852
  • 61
  • PDF
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,5Expand
  • 738
  • 52
  • PDF
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 identifiedExpand
  • 320
  • 27
  • PDF
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 theExpand
  • 217
  • 21
  • PDF
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 differentialExpand
  • 314
  • 18
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 compareExpand
  • 210
  • 16
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 PatientsExpand
  • 175
  • 14
  • PDF
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 managementExpand
  • 163
  • 12
  • 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 lateral sclerosisExpand
  • 383
  • 11
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 prospectiveExpand
  • 140
  • 11
  • PDF