• 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
  • 851
  • 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
  • 737
  • 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
  • 319
  • 27
  • 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
Prognosis in amyotrophic lateral sclerosis: A population-based study
To the Editor: A recent article published in Neurology raises a concern for migraineurs who have concomitant restless legs syndrome (RLS).1 Because RLS—similar to and often conflated withExpand
  • 281
  • 14
Severely increased risk of amyotrophic lateral sclerosis among Italian professional football players.
The cause of amyotrophic lateral sclerosis (ALS) is still unknown. A possible relationship between ALS and sport participation has been supposed, but never definitely demonstrated. We studied aExpand
  • 410
  • 13
  • 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
Immune system alterations in sporadic amyotrophic lateral sclerosis patients suggest an ongoing neuroinflammatory process
In this work we show that patients with sporadic amyotrophic lateral sclerosis exhibit immunological alterations in their blood, with respect to healthy controls, such as: i) increased levels of CD4+Expand
  • 127
  • 11
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ~40% of familial amyotrophicExpand
  • 174
  • 9
  • PDF