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Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS)Expand
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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
We recently identified angiogenin (ANG) as a candidate susceptibility gene for amyotrophic lateral sclerosis (ALS), a neurodegenerative disorder characterized by adult-onset loss of motor neurons. WeExpand
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EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force
Background:  The evidence base for the diagnosis and management of amyotrophic lateral sclerosis (ALS) is weak.
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VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
Amyotrophic lateral sclerosis (ALS) is an incurable degenerative disorder of motoneurons. We recently reported that reduced expression of Vegfa causes ALS-like motoneuron degeneration in Vegfaδ/δExpand
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Toxicity of Familial ALS-Linked SOD1 Mutants from Selective Recruitment to Spinal Mitochondria
One cause of amyotrophic lateral sclerosis (ALS) is mutation in ubiquitously expressed copper/zinc superoxide dismutase (SOD1), but the mechanism of toxicity to motor neurons is unknown. MultipleExpand
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Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Hereditary amyotrophic lateral sclerosis (ALS) encompasses a group of genetic disorders characterized by adult-onset loss of the lower and upper motor neuron systems, often with involvement of otherExpand
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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
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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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Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
  • P. Andersen
  • Biology, Medicine
  • Current neurology and neuroscience reports
  • 2006
This review highlights recent epidemiologic, clinical-genetic, and neurochemical advances in our understanding of sporadic amyotrophic lateral sclerosis (ALS) and their relationships to familial ALSExpand
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Minute quantities of misfolded mutant superoxide dismutase-1 cause amyotrophic lateral sclerosis.
Mutant forms of superoxide dismutase-1 (SOD1) cause amyotrophic lateral sclerosis (ALS) by an unknown noxious mechanism. Using an antibody against a novel epitope in the G127insTGGG mutation, mutantExpand
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