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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 lateralExpand
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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
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Physical activity and amyotrophic lateral sclerosis: A European population‐based case–control study
To assess whether physical activity is a risk factor for amyotrophic lateral sclerosis (ALS).
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Genetic counselling in ALS: facts, uncertainties and clinical suggestions
The clinical approach to patients with amyotrophic lateral sclerosis (ALS) has been largely modified by the identification of novel genes, the detection of gene mutations in apparently sporadicExpand
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Stem-cell therapy for amyotrophic lateral sclerosis
CONTEXT With the lack of effective drug treatments for amyotrophic lateral sclerosis (ALS), and compelling preclinical data, stem-cell research has highlighted this disease as a candidate forExpand
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Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells
Background Amyotrophic lateral sclerosis (ALS) is a fatal progressive motor neuron disease, for which there are still no diagnostic/prognostic test and therapy. Specific molecular biomarkers areExpand
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A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.
Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease.Expand
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Strictly monitored exercise programs reduce motor deterioration in ALS: preliminary results of a randomized controlled trial
The objective of our study was to perform a randomized controlled trial (RCT) aimed to evaluate the effects of three strictly monitored exercise programs (SMEP) compared to “usual care” (UCP) in aExpand
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Lithium carbonate in amyotrophic lateral sclerosis
Background: A neuroprotective effect of lithium in amyotrophic lateral sclerosis (ALS) has been recently reported. We performed a multicenter trial with lithium carbonate to assess its tolerability,Expand
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Burden, depression, and anxiety in caregivers of people with amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease caused by the degeneration of motor neurons. The burden for ALS caregivers is quite high. There are still fewExpand
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