A5087260383- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Parkinson's Disease Mechanisms and Treatments
- Alzheimer's disease research and treatments
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Nerve Injury and Rehabilitation
- Muscle metabolism and nutrition
- Congenital heart defects research
- Prion Diseases and Protein Misfolding
- Kruppel-like factors research
- Nuclear Receptors and Signaling
- Cholinesterase and Neurodegenerative Diseases
- Genetic Neurodegenerative Diseases
- Language, Discourse, Communication Strategies
- Ubiquitin and proteasome pathways
- Neonatal Respiratory Health Research
- Cardiovascular Conditions and Treatments
- Syntax, Semantics, Linguistic Variation
- Mitochondrial Function and Pathology
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Cancer-related gene regulation
Santa Clara Valley Medical Center
2024
Stanford University
2020-2021
Santa Clara Valley Health and Hospital System
2021
Lucile Packard Children's Hospital
2020
University of Toronto
2013
National Institutes of Health
2006-2012
University of California, Irvine
2012
National Institute on Aging
2006-2011
University of Oxford
2007-2010
Centre for Human Genetics
2007
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive limb or bulbar weakness. Efforts to elucidate the disease-associated loci have date produced conflicting results. One strategy improve power in genome-wide studies genotype genetically homogenous population. Such population exhibits extended linkage disequilibrium (LD) and lower allelic heterogeneity facilitate gene mapping. We sought identify associated variants for ALS Irish, stable of...
<b>Objective:</b> Mutations in the progranulin (<i>PGRN</i>) gene were recently described as cause of ubiquitin positive frontotemporal dementia (FTD). Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) FTD prompted us to screen <i>PGRN</i> patients with ALS ALS–FTD. <b>Methods:</b> The was sequenced 272 cases sporadic ALS, 40 familial 49 <b>Results:</b> Missense changes identified an ALS–FTD patient (p.S120Y) a single case limb onset (p.T182M), although...
The cause of sporadic amyotrophic lateral sclerosis (ALS) is largely unknown, but genetic factors are thought to play a significant role in determining susceptibility motor neuron degeneration. To identify variants altering risk ALS, we undertook two-stage genome-wide association study (GWAS): followed our initial GWAS 545 066 SNPs 553 individuals with ALS and 2338 controls by testing the 7600 most associated from first stage three independent cohorts consisting 2160 cases 3008 controls....
Abstract Background A new locus for amyotrophic lateral sclerosis – frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p. Methods We identified 9p segregating haplotypes within two families with ALS-FTD (F476 and F2) undertook mutational screening of candidate genes this locus. Results Candidate gene sequencing at revealed the presence a disease stop mutation (Q342X) in intraflagellar transport 74 ( IFT74) family 476 (F476), but no was detected IFT74 2 (F2). While...
BackgroundTAR DNA binding protein, encoded by TARDBP, was shown to be a central component of ubiquitin-positive, tau-negative inclusions in frontotemporal lobar degeneration (FTLD-U) and amyotrophic lateral sclerosis (ALS). Recently, mutations TARDBP have been linked familial sporadic ALS.Methodology/Principal FindingsTo further examine the frequency ALS, 279 ALS cases 806 neurologically normal control individuals European descent were screened for sequence variants, copy number genetic...
<h3>Background</h3> TAR DNA-binding protein 43, encoded by the<i>TARDBP</i>gene, has been identified as the major pathological of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the<i>TARDBP</i>gene have detected 2% to 3% patients ALS (both familial ALS). However, our knowledge, there is only 1 description 2 FTLD and<i>TARDBP</i>gene who later developed motor neuron disease. <h3>Objective</h3> To describe...
It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect survival of amyotrophic lateral sclerosis (ALS) patients by influencing KIFAP3 expression. The cohorts used in study were collected from ALS specialty clinics. We attempted to replicate these findings population-based cohort 504 Italian patients. None 140 SNPs genotyped within the locus (including rs1541160) had an (log-rank P value for = 0.47) or gene expression region. These data illustrate complexities...
Amyotrophic lateral sclerosis (ALS) is a fatal, degenerative neuromuscular disease characterized by progressive loss of voluntary motor activity. About 95% ALS patients are in "sporadic form"-meaning their not associated with family history the disease. To date, genetic factors sporadic form poorly understood.We proposed two-stage approach based on seventeen biological plausible models to search for two-locus combinations that have significant joint effects genome-wide association study...