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- Publications
- Influence
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
- D. R. Rosen, T. Siddique, +30 authors R. Brown
- Biology, Medicine
- Nature
- 1 March 1993
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 five… Expand
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
- T. J. Kwiatkowski, D. A. Bosco, +23 authors R. Brown
- Biology, Medicine
- Science
- 27 February 2009
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 in… Expand
TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
- E. Kabashi, P. Valdmanis, +12 authors G. Rouleau
- Biology, Medicine
- Nature Genetics
- 1 May 2008
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 motor… Expand
Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours
- O. Delattre, J. Zucman, +9 authors G. Thomas
- Biology, Medicine
- Nature
- 10 September 1992
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 been… Expand
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
- B. Minassian, J. Lee, +16 authors S. Scherer
- Biology, Medicine
- Nature Genetics
- 1 October 1998
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 late… Expand
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
- E. Cirulli, Brittany N. Lasseigne, +68 authors D. Goldstein
- Biology, Medicine
- Science
- 27 March 2015
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 brain… Expand
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 genetic… Expand
Variation in genome-wide mutation rates within and between human families
- D. Conrad, Jonathan E M Keebler, +14 authors P. Awadalla
- Biology, Medicine
- Nature Genetics
- 1 July 2011
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 the… Expand
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane.
- A. Chishti, A. Kim, +21 authors K. B. Hoover
- Chemistry, Medicine
- Trends in biochemical sciences
- 1 August 1998
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
- P. Cossette, Lidong Liu, +9 authors G. Rouleau
- Biology, Medicine
- Nature Genetics
- 1 June 2002
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. We… Expand