Guy A. Rouleau

Journal ArticleDOI

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

- 27 Feb 2009 -

TL;DR: Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders.

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Journal ArticleDOI

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee, +405 more

- 01 Sep 2013 -

Nature Genetics

TL;DR: Empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.

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Journal ArticleDOI

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

Olivier Delattre, +11 more

- 10 Sep 1992 -

Nature

TL;DR: Phylogenetically conserved restriction fragments in the vicinity of EWSR1 and EWSR2, the genomic regions where the breakpoints of chromosome 22 and chromosome 11 are, respectively, have allowed identification of transcribed sequences from these regions and has indicated that a hybrid transcript might be generated by the translocation.

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Journal ArticleDOI

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi, +15 more

- 30 Mar 2008 -

Nature Genetics

TL;DR: Findings further corroborate that TDP-43 is involved in ALS pathogenesis and reports eight missense mutations in nine individuals—six from individuals with sporadic ALS and three from those with familial ALS (FALS)—and a concurring increase of a smaller T DP-43 product.

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Journal ArticleDOI

Analysis of shared heritability in common disorders of the brain

Verneri Anttila, +720 more

- 22 Jun 2018 -

Science

TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.

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Papers

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Analysis of shared heritability in common disorders of the brain