User profiles for Guy Rouleau
Guy RouleauMontreal 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 …
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 …
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
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 …
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
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 …
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) …
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 …
substantial pleiotropy of contributing loci. However, the nature and mechanisms of these …
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 …
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 …
were identified in amyotrophic lateral sclerosis ( ALS ) patients. Interestingly, TDP ‐43 …
Genetics of motor neuron disorders: new insights into pathogenic mechanisms
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 …
motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary …
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 …
amyotrophic lateral sclerosis (ALS), an adult-onset neurological disorder that leads to the …