• Publications
  • Influence
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
New players in Lou Gehrig's disease Amyotrophic lateral sclerosis (ALS), often referred to as “Lou Gehrig's disease,” is a progressive neurodegenerative disease that affects nerve cells in the brainExpand
  • 576
  • 46
  • PDF
A yeast functional screen predicts new candidate ALS disease genes
Amyotrophic lateral sclerosis (ALS) is a devastating and universally fatal neurodegenerative disease. Mutations in two related RNA-binding proteins, TDP-43 and FUS, that harbor prion-like domains,Expand
  • 234
  • 23
  • PDF
Exome sequencing to identify de novo mutations in sporadic ALS trios
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, we assessed the role of de novoExpand
  • 116
  • 13
  • PDF
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Mutations in related RNA-binding proteins TDP-43, FUS/TLS and TAF15 have been connected to ALS. TheseExpand
  • 208
  • 11
  • PDF
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
Targeting three defects with one strategy The neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia are most commonly caused by a mutation in the C9orf72 gene. TheExpand
  • 78
  • 6
  • PDF
PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions.
Mitochondrial crista structure partitions vital cellular reactions and is precisely regulated by diverse cellular signals. Here, we show that, in Drosophila, mitochondrial cristae undergo dynamicExpand
  • 36
  • 3
Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in progressive degeneration of motor neurons, ultimately leading to paralysis and death. Approximately 10%Expand
  • 35
  • 2
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons
Progressive aggregation of the protein alpha-synuclein (α-syn) and loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc) are key histopathological hallmarks of Parkinson’s diseaseExpand
  • 22
  • 2
LRRK2 modifies α-syn pathology and spread in mouse models and human neurons
Progressive aggregation of the protein alpha-synuclein (α-syn) and loss of dopaminergic neurons in the substantia nigra pars compacta (SNpc) are key histopathological hallmarks of Parkinson’s diseaseExpand
  • 12
  • 2
CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9orf72 dipeptide repeat protein toxicity
Hexanucleotide-repeat expansions in the C9ORF72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia (c9ALS/FTD). The nucleotide-repeat expansions areExpand
  • 59
  • 1