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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in aExpand
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ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and spinal cord. ALS is thought to be multifactorial,Expand
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Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
Optineurin (OPTN) mutations have been reported in a cohort of Japanese patients with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis. In Caucasian patients, OPTN mutations have beenExpand
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Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective death of motor neurons in the brain and spinal cord. Genetic risk factors have beenExpand
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VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient
Previously, we have reported amyotrophic lateral sclerosis (ALS) families with multiple mutations in major ALS-associated genes. These findings provided evidence for an oligogenic basis of ALS. InExpand
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Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overallExpand
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A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
Previously, we reported germline DNA variants associated with risk of urinary bladder cancer (UBC) in Dutch and Icelandic subjects. Here we expanded the Icelandic sample set and tested the top 20Expand
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Alzheimer’s disease beyond APOE
Two genome-wide association studies together report three new susceptibility loci for late-onset Alzheimer’s disease. CLU, PICALM and CR1 may be involved in amyloid-β clearance from the brain.
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Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the brain and spinal cord. This neurodegenerative syndrome shares pathobiological features withExpand
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Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients
Polymorphisms in the paraoxonase family (PON) have been reported in patients with amyotrophic lateral sclerosis (ALS), but a recent meta-analysis did not show a clear association. Recently, PONExpand
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