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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. The function of TDP-43 in the nervousExpand
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Letter abstract - Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's Disease
We undertook a two-stage genome-wide association study (GWAS) of Alzheimer's disease (AD) involving over 16,000 individuals, the most powerful AD GWAS to date. In stage 1 (3,941 cases and 7,848Expand
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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
Objective: To perform genetic linkage analysis in a family affected with ALS and frontotemporal dementia (FTD). Methods: The authors performed a genome-wide linkage analysis of a four-generation,Expand
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The sex ratio in amyotrophic lateral sclerosis: A population based study
Abstract Replicable risk factors for ALS include increasing age, family history and being male. The male: female ratio has been reported as being between 1 and 3. We tested the hypothesis that theExpand
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Early symptom progression rate is related to ALS outcome: a prospective population-based study.
Objective: To define the factors related to ALS outcome in a population-based, prospective survey. Methods: The 221 patients (120 men and 101 women) listed in the Piemonte and Valle d’Aosta ALSExpand
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Amyotrophic Lateral Sclerosis.
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Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis
In a retrospective case note study of patients referred to a specialist clinic for motor neuron disorders we identified a subgroup of patients with severe wasting and weakness of the arms withoutExpand
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Executive dysfunction predicts social cognition impairment in amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor system with recognised extra-motor and cognitive involvement. This cross-sectional study examined ALS patients’Expand
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[11C]-WAY100635 PET demonstrates marked 5-HT1A receptor changes in sporadic ALS.
The pathogenesis of amyotrophic lateral sclerosis (ALS) remains obscure, but it is now clear that neuronal loss is not confined to the motor cortex, even in cases without dementia. A reliable methodExpand
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