• Publications
  • Influence
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the cortex, brainstem and spinal cord1,2. Its cause is unknown and it is uniformly fatal, typically within fiveExpand
  • 6,096
  • 273
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused inExpand
  • 2,026
  • 201
  • PDF
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
Recently, TDP-43 was identified as a key component of ubiquitinated aggregates in amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the degeneration of motorExpand
  • 1,298
  • 132
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
EWING'S sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent and specific t(ll;22) (q24;q12) chromosome translocation1–8, the breakpoints of which have recently beenExpand
  • 1,520
  • 64
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during lateExpand
  • 432
  • 51
  • PDF
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
  • 616
  • 48
  • PDF
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared geneticExpand
  • 1,664
  • 46
  • PDF
Variation in genome-wide mutation rates within and between human families
J.B.S. Haldane proposed in 1947 that the male germline may be more mutagenic than the female germline. Diverse studies have supported Haldane's contention of a higher average mutation rate in theExpand
  • 495
  • 42
  • PDF
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
  • 519
  • 33
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. WeExpand
  • 562
  • 32