User profiles for Guy Rouleau

Guy Rouleau

Montreal Neurological Institute-Hospital, McGill University
Verified email at mcgill.ca
Cited by 109600

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

…, E Soriano, MA Pericak–Vance, J Haines, GA Rouleau… - Nature, 1993 - nature.com
AMYOTROPHIC lateral sclerosis (ALS) is a degenerative disorder of motor neurons in the
cortex, brainstem and spinal cord 1,2 . Its cause is unknown and it is uniformly fatal, typically …

The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane

…, H Jindal, SC Liu, PS Low, GA Rouleau… - Trends in biochemical …, 1998 - cell.com
LETTERS the T7 DNA polymerase ternary complex are directly applicable to KF. A similar
orientation for bound DNA was also obtained when we superposed the pol-ß carboxylate triad …

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

…, RS Bedlack, JW Harper, AD Gitler, GA Rouleau… - Science, 2015 - science.org
Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective
treatment. We report the results of a moderate-scale sequencing study aimed at increasing the …

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

…, M Peter, H Kovar, I Joubert, P De Jong, G Rouleau… - Nature, 1992 - nature.com
EWING'S sarcoma and related subtypes of primitive neuroectodermal tumours share a recurrent
and specific t(ll;22) (q24;q12) chromosome translocation 1–8 , the breakpoints of which …

[HTML][HTML] Genetics of familial and sporadic amyotrophic lateral sclerosis

F Gros-Louis, C Gaspar, GA Rouleau - Biochimica et Biophysica Acta (BBA) …, 2006 - Elsevier
Diseases affecting motor neurons, such as amyotrophic lateral sclerosis (Lou Gerhig's disease),
hereditary spastic paraplegia and spinal bulbar muscular atrophy (Kennedy's disease) …

[PDF][PDF] Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

…, A Reichenberg, J Reichert, K Roeder, GA Rouleau… - Cell, 2019 - cell.com
Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

…, A Verner, WY Lu, YU Tian Wang, GA Rouleau - Nature …, 2002 - nature.com
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 …

TARDBP and FUS Mutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

S Lattante, GA Rouleau, E Kabashi - Human mutation, 2013 - Wiley Online Library
Mutations in the TAR DNA B inding P rotein gene (TARDBP), encoding the protein TDP ‐43,
were identified in amyotrophic lateral sclerosis ( ALS ) patients. Interestingly, TDP ‐43 …

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

PA Dion, H Daoud, GA Rouleau - Nature Reviews Genetics, 2009 - nature.com
The past few years have seen the identification of dozens of genes with causal roles in
motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary …

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

…, W Camu, V Meininger, N Dupre, GA Rouleau - Nature …, 2008 - nature.com
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 …