Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
P Cossette, L Liu, K Brisebois, H Dong, A Lortie… - 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 …
that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be …
Neuron-specific expression of mutant superoxide dismutase 1 in transgenic mice does not lead to motor impairment
…, J Laganière, J Roussel, K Brisebois… - Journal of …, 2001 - Soc Neuroscience
Mutations were identified in the Cu/Zn superoxide dismutase gene (SOD1) in ∼15% of patients
with familial amyotrophic lateral sclerosis. Transgenic animals expressing mutant SOD1 …
with familial amyotrophic lateral sclerosis. Transgenic animals expressing mutant SOD1 …
CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)
S Hayes, G Turecki, K Brisebois… - Human molecular …, 2000 - academic.oup.com
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant disorder caused by the
expansion of a polymorphic (CAG) n tract, which is translated into an expanded polyglutamine …
expansion of a polymorphic (CAG) n tract, which is translated into an expanded polyglutamine …
T102C polymorphism in the 5HT2A gene and schizophrenia: relation to phenotype and drug response variability.
R Joober, C Benkelfat, K Brisebois… - Journal of Psychiatry …, 1999 - ncbi.nlm.nih.gov
Although genes play a major role in the etiology of schizophrenia, no major genes involved
in this disease have been identified. However, several genes with small effect have been …
in this disease have been identified. However, several genes with small effect have been …
Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity
…, AS Walters, BL Ehrenberg, K Brisebois… - Archives of …, 2005 - jamanetwork.com
Background Genes are involved in the etiology of restless legs syndrome, a common
sensorimotor disorder. Objectives To replicate and to further characterize our previously reported …
sensorimotor disorder. Objectives To replicate and to further characterize our previously reported …
Analysis of CAG repeat expansions in restless legs syndrome
Study Objectives: A relatively high prevalence of restless legs syndrome symptoms has been
recently reported in a substantial proportion of patients affected with spinocerebellar ataxia …
recently reported in a substantial proportion of patients affected with spinocerebellar ataxia …
Lack of association between the hSKCa3 channel gene CAG polymorphism and schizophrenia
R Joober, C Benkelfat, K Brisebois… - American journal of …, 1999 - Wiley Online Library
Genetic anticipation, a phenomenon characterized by increased severity of symptoms and
earlier age at onset of a disease in successive generations, is believed to be present in …
earlier age at onset of a disease in successive generations, is believed to be present in …
Role of CuZn superoxide dismutase in familial amyotrophic lateral sclerosis
A Pramatarova - 1999 - escholarship.mcgill.ca
… my first steps in the lab; to Janet Laganière for assistance and advice in immunocytochemistry
and microscopy; to Julie Roussel, Katéri Brisebois and Claude Marineau for lending a …
and microscopy; to Julie Roussel, Katéri Brisebois and Claude Marineau for lending a …
Genetic mechanisms of neurodegeneration
JS Parboosingh - 1998 - escholarship.mcgill.ca
INFORMATION TO USERS Page 1 INFORMATION TO USERS This manuscript has been
reproduced from the microfilm master. UMI films the text directly from the original or copy …
reproduced from the microfilm master. UMI films the text directly from the original or copy …
Molecular characterization of the OPMD gene product, poly (A) binding protein nuclear 1 (PABPN1)
X Fan - 2002 - escholarship.mcgill.ca
This thesis is composed of three papers that are included almost entirely in the form in which
they are or will be submitted for publication. The structure of this manuscript-based thesis …
they are or will be submitted for publication. The structure of this manuscript-based thesis …