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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
TLDR
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD) locus contains one of the last major unidentified autosomal-dominant genes underlying these common neurodegenerative diseases, and a large hexanucleotide repeat expansion in the first intron of C9ORF72 is shown. Expand
State of play in amyotrophic lateral sclerosis genetics
TLDR
Current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1 are summarized and how each new genetic discovery is broadening the phenotype associated with the clinical entity the authors know as ALS is outlined. Expand
Incidence of amyotrophic lateral sclerosis in Europe
TLDR
Sex differences in incidence may be explained by the higher incidence of spinal onset ALS among men, and the age related disease pattern suggests that ALS occurs within a susceptible group within the population rather than being a disease of ageing. Expand
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
TLDR
A common Mendelian genetic lesion in C9orf72 is implicated in many cases of sporadic and familial ALS and FTD, suggesting a one-off expansion occurring about 1500 years ago. Expand
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
TLDR
The ITALSGEN Consortium is a network of around-the-world experts, academics, and practitioners working together to provide real-time information about the human brain’s response to ALS, and to provide a scaffolding for future research. Expand
EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force
TLDR
The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak and needs to be strengthened, according to the authors. Expand
Prognostic factors in ALS: A critical review
TLDR
A systematic review of factors related to survival in ALS revealed the rate of symptom progression was revealed to be an independent prognostic factor, and these findings have relevant implications for the design of future trials. Expand
Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature
TLDR
Disparity in rates among ALS incidence and prevalence studies may be due to differences in study design or true variations in population demographics such as age and geography, including environmental factors and genetic predisposition. Expand
Controversies and priorities in amyotrophic lateral sclerosis
TLDR
Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. Expand
Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
TLDR
Exome sequencing data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration in ALS kindreds and observed MATR3 pathology in ALS-affected spinal cords with and withoutMATR3 mutations. Expand
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