Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple
sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 …

To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

Recent studies identified rare missense mutations in amyotrophic lateral sclerosis (ALS)
patients in the TARDBP gene encoding TAR DNA binding protein (TDP)‐43, the major …

Background Mutations in the FUS gene have recently been discovered to be a major cause
of familial amyotrophic lateral sclerosis (FALS). Objective To determine the identity and …

Objective: To assess the frequency and clinical characteristics of patients with mutations of
major amyotrophic lateral sclerosis (ALS) genes in a prospectively ascertained, population …

Objective Amyotrophic lateral sclerosis (ALS) incidence rates are consistent with the
hypothesis that ALS is a multistep process. We tested the hypothesis that carrying a large …

Objective To identify shared polygenic risk and causal associations in amyotrophic lateral
sclerosis (ALS). Methods Linkage disequilibrium score regression and Mendelian …

Objective To assess the association of the degree of severity of motor impairment to that of
cognitive impairment in a large cohort of patients with amyotrophic lateral sclerosis (ALS) …

Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal dementia (FDT) are progressive
neurodegenerative disorders that, in several cases, overlap in clinical presentation, and …