Cynthia V. Bourassa
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View article: Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome
Transcriptome-wide association study reveals increased neuronal FLT3 expression is associated with Tourette’s syndrome Open
Tourette’s Syndrome (TS) is a neurodevelopmental disorder that is characterized by motor and phonic tics. A recent TS genome-wide association study (GWAS) identified a genome-wide significant locus. However, determining the biological mech…
View article: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease Open
Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly expl…
View article: Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
Investigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations Open
A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and long…
View article: Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease
Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease Open
Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the expansion partly expl…
View article: Genetic and epidemiological characterization of restless legs syndrome in Québec
Genetic and epidemiological characterization of restless legs syndrome in Québec Open
Currently, a total of 19 genetic loci are associated with the risk for developing RLS. This study aimed to assess these RLS predisposing genetic variants, as well as investigate the epidemiological profile and diagnostic features of indivi…
View article: Increased expression of genetically-regulated<i>FLT3</i>implicated in Tourette’s Syndrome
Increased expression of genetically-regulated<i>FLT3</i>implicated in Tourette’s Syndrome Open
Tourette’s Syndrome (TS) is a neurodevelopmental disorder that is characterized by motor and phonic tics. A recent TS genome-wide association study (GWAS) identified a genome-wide significant locus. However, determining the biological mech…
View article: Genetic architecture and adaptations of Nunavik Inuit
Genetic architecture and adaptations of Nunavik Inuit Open
The Canadian Inuit have a distinct population background that may entail particular implications for the health of its individuals. However, the number of genetic studies examining this Inuit population is limited, and much remains to be d…
View article: Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations
Investigation of the pathogenic <i>RFC1</i> repeat expansion in a Canadian and a Brazilian ataxia cohort: identification of novel conformations Open
A homozygous pentanucleotide expansion in the RFC1 gene has been shown to be a common cause of late-onset ataxia. In the general population a total of four different repeat conformations have been observed: a wild type sequence AAAAG (11 r…
View article: Full sequencing and haplotype analysis of <i>MAPT</i> in Parkinson's disease and rapid eye movement sleep behavior disorder
Full sequencing and haplotype analysis of <i>MAPT</i> in Parkinson's disease and rapid eye movement sleep behavior disorder Open
Background: MAPT haplotypes are associated with PD, but their association with rapid eye movement sleep behavior disorder is unclear. Objective: To study the role of MAPT variants in rapid eye movement sleep behavior disorder. Methods: Two…
View article: No rare deleterious variants from <i>STK32B</i> , <i>PPARGC1A</i> , and <i>CTNNA3</i> are associated with essential tremor
No rare deleterious variants from <i>STK32B</i> , <i>PPARGC1A</i> , and <i>CTNNA3</i> are associated with essential tremor Open
No rare exonic variants further validated one of these genes as a risk factor for ET. The recent GWAS offers promising avenues, but the genetic heterogeneity of ET is nonetheless challenging for the validation of risk factors, and ultimate…
View article: [P1–156]: FAMILIAL AGGREGATION OF ATYPICAL DEMENTIA IN A LARGE CANADIAN FAMILY: THE MISSING GENE
[P1–156]: FAMILIAL AGGREGATION OF ATYPICAL DEMENTIA IN A LARGE CANADIAN FAMILY: THE MISSING GENE Open
Recent advances in genetic technology have provided insight into familial aggregation of dementia and have allowed the discovery of pathogenic mutations in monogenic forms. However, in some cases consistent with a mendelian trait of inheri…
View article: Genome-wide association study in essential tremor identifies three new loci
Genome-wide association study in essential tremor identifies three new loci Open
We conducted a genome-wide association study of essential tremor, a common movement disorder characterized mainly by a postural and kinetic tremor of the upper extremities. Twin and family history studies show a high heritability for essen…
View article: Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals
Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals Open
De novo mutations (DNM) are an important source of rare variants and are increasingly being linked to the development of many diseases. Recently, the paternal age effect has been the focus of a number of studies that attempt to explain the…