Publications
Genetic-based diagnostics of Parkinson’s disease and other Parkinsonian syndromes
GBA1 T369M and Parkinson’s disease – Further evidence of a lack of association in the Swedish population
LRRK2 rare-variant per-domain genetic burden in Parkinson’s Disease.
Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson’s disease pathogenesis.
Heterozygous RAB3A variants cause cerebellar ataxia by a partial loss-of-function mechanism.
Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders.
Plasma biomarkers of Alzheimer’s pathology identify prodromal dementia with Lewy bodies.
Lack of Epistatic Interaction of SNCA with APOE in Synucleinopathies.
Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease?
EEFSEC Deficiency – A Novel Selenopathy with Early Onset Neurodegeneration.
Advancing Parkinson’s Disease Research in Canada: The Canadian Open Parkinson Network (C-OPN).
GLON5 Frequency in idiopathic REM sleep behavior disorder: a multicenter study.
Genome-wide association study of glucocerebrosidase activity modifiers.
Is GBA1 T369M not a risk factor for Parkinson’s disease in the Swedish population?
RAB32 Ser71Arg in autosomal dominant Parkinson’s disease: linkage, association, and functional analyses.
Impact of a national dementia research consortium: The Canadian Consortium on Neurodegeneration in Aging (CCNA)
Parkinson’s risk gene CTSB promotes α-synuclein clearance and lysosome function in dopamine neurons.
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson’s disease?
Comorbid neurotrauma increases synucleinopathy-relevant cognitive, motor, and autonomic dysfunction in patients with REM sleep behavior disorder: A substudy of the North American Prodromal Synucleinopathy Consortium
Genetics of NLRP3 suggests lack of involvement and inefficient druggability in Parkinson′s disease.
Dopamine pathway and Parkinson’s risk variants are associated with levodopa-induced dyskinesia.
Genotype-Phenotype correlations in PRKN-associated Parkinson’s disease.
Exome sequencing in Asian populations identifies Low-Frequency and Rare Coding Variation influencing Parkinson’s disease Risk.
Genome-wide association study stratified by MAPT haplotypes identifies potential novel loci in Parkinson’s disease
APOE – e4 is not associated with pure-tone hearing thresholds, visual acuity or cognition, cross-sectionally or over 3 years of follow up in the Canadian Longitudinal Study on Aging.
Autosomal dominant Parkinson’s disease caused by SNCA p.E46K mutation in a family with Russian ancestry.
Neuroanatomical correlates of polygenic risk for Parkinson Disease.
DENND5A epileptic encephalopathy features global developmental delay, seizures and ventriculomegaly.
Lessons and future directions for GBA1 targeting therapies.
Machine learning nominates the inositol pathway and novel genes in Parkinson’s disease.
Epigenetic clock acceleration is linked to earlier onset and phenoconversion age in REM sleep behavior disorder.
MerTK mediates the immunologically silent uptake of alpha-synuclein fibrils by human microglia.
Association of rare variants in ARSA with Parkinson’s disease.
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
Protective association of HLA-DRB1*04 subtypes in neurodegenerative diseases implicates acetylated Tau PHF6 sequences
NPC1 variants are not associated with Parkinson’s disease, REM-sleep behaviour disorder or Dementia with Lewy bodies in European cohorts.
Potential protective link between type I diabetes and Parkinson’s disease risk and progression.
LRRK2 and Parkinson’s disease: from genetics to targeted therapy.
Exploring the Genetic and Genomic Connection Underlying Neurodegeneration with Brain Iron Accumulation and the Risk for Parkinson’s Disease.
Mitochondrial function-associated genes underlie cortical atrophy in prodromal synucleinopathies.
Classification of GBA1 variants in Parkinson disease; the GBA1-PD browser.
Neuroanatomical correlates of genetic risk for obesity in children.
Genome-wide association study of REM sleep behavior disorder identifies novel loci with distinct polygenic and brain expression effects.
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease.
TCEAL1 loss-of-function results in an X-linked dominant neurological syndrome and drives the neurological disease trait in Xq22.2 deletions
Genome-wide contribution of common Short-Tandem Repeats to Parkinson’s Disease genetic risk.
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson’s disease cohorts of European descent.
BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease.
No Association Between Rare TWNK Variants and Parkinson’s Disease in European Cohorts.
BA1 and The Immune System – A Potential Role in Parkinson’s Disease?
Alzheimer’s disease polygenic risk score is not associated with cognitive decline among older adults with type 2 diabetes.
Effect modification between genes and environment, and Parkinson’s disease risk.
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes.
Rapid eye movement sleep behaviour disorder: Past, present, and future.
Genetic, structural and clinical analysis of spastic paraplegia 4.
RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian Disorder.
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia.
Brain atrophy progression in Parkinson’s disease is shaped by connectivity and local vulnerability.
New therapeutic approaches to Parkinson’s disease targeting GBA, LRRK2 and Parkin.
Plasma glucosylsphingosine in glucocerebrosidase carriers with and without Parkinson disease.
Hereditary spastic paraplegia initially diagnosed as cerebral palsy.
Rare PSAP variants and possible interaction with GBA in REM sleep behavior disorder.
Genetic stratification of age-dependent Parkinson’s disease risk by polygenic hazard score.
Coding and non-coding variation in LRRK2 and Parkinson’s Disease Risk.
Axial Impairment Following Deep Brain Stimulation in Parkinson’s Disease: A Surgicogenomic Approach.
Fine mapping of the HLA locus in Parkinson’s disease in Europeans.
Biomarkers of Phenoconversion in Isolated REM Sleep Behaviour Disorder: A review by the International RBD Study Group
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
RIC3 variants are not associated with Parkinson’s Disease in large European, Latin American, or East Asian cohorts.
MAPT genetics in tauopathies and synucleinopathies.
Alpha-synuclein (SNCA) A30G mutation as a cause of a complex phenotype without parkinsonism.
SORL1 mutation in a Greek family with Parkinson’s Disease and Dementia
Clinical and genetic analysis of Costa Rican patients with Parkinson’s disease.
Occurrence of amyotrophic lateral sclerosis in type 1 Gaucher disease.
Lack of Causal Relationship or Genetic Correlation between Restless Legs Syndrome and Parkinson’s Disease.
Common and rare variants in HFE are not associated with Parkinson’s disease in Europeans.
Analysis of PTRHD1 common and rare variants in European patients with Parkinson’s disease.
Investigation of Autosomal Genetic Sex Differences in Parkinson’s disease.
GCH1 mutations in hereditary spastic paraplegia.
Type 2 diabetes as a determinant of Parkinson’s disease risk and progression.
No evidence for a causal relationship between cancers and Parkinson’s disease.
Evidence for non-Mendelian inheritance in spastic paraplegia 7.
Common X-chromosome variants are associated with Parkinson’s disease risk.
Association of the CD2AP locus with cognitive functioning among middle aged individuals with a family history of Alzheimer’s disease.
Common variant heritability implicates microglia in Parkinson’s disease pathogenesis.
Cytokines and Gaucher biomarkers in glucocerebrosidase carriers with and without Parkinson disease.
Novel associations of BST1 and LAMP3 with rapid eye movement sleep behavior disorder.
Genetic and epidemiological study of adult onset hereditary ataxia and spastic paraplegia in Eastern Quebec.
Association between BDNF Val66Met polymorphism and mild behavioral impairment in patients with Parkinson’s disease.
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into the complex genetic architecture.
Investigating the relationship between the SNCA gene and cognitive abilities in idiopathic Parkinson’s Disease using machine learning.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson’s disease.
Targeted sequencing of Parkinson’s disease loci genes highlights SYT11, FGF20 and other associations.
Replication assessment of NUS1 variants in Parkinson’s Disease.
Association study of DNAJC13, UCHL1, HTRA2, GIGYF2 and EIF4G1 with Parkinson’s disease.
Lack of evidence for association of UQCRC1 with Parkinson’s disease in Europeans.
Precision Medicine In Parkinson’s Disease Patients With LRRK2 And GBA Risk Variants – Let’s Get Even More Personal
Comprehensive analysis of familial parkinsonism genes in rapid eye movement sleep behavior disorder.
Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease.
Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients.
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson’s disease
Lack of evidence for genetic association of saposins A, B, C and D with Parkinson’s disease.
Assessing non-Mendelian Inheritance in Inherited Axonopathies.
GBA variation and susceptibility to multiple system atrophy.
Large-scale Pathway Specific Polygenic Risk and Transcriptomic Community Network Analysis Identifies Novel Functional Pathways in Parkinson Disease.
Comprehensive assessment of PINK1 variants in Parkinson’s disease.
SMPD1 variants do not have a major role in REM sleep behavior disorder
Biomarker Development and Disease Modification in Parkinson’s disease: Revision or Reconstruction?
Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype.
Decreased penetrance of PD associated with heterozygous GBA p.L444P/R in an elderly cohort.
The Quebec Parkinson Network: A researcher-patient matching platform and multimodal biorepository.
Genetic, structural and functional evidence link TMEM175 to synucleinopathies.
Genetic modifiers of risk and age at onset in GBA associated Parkinson’s disease and Lewy body dementia.
Analysis of common and rare VPS13C variants in late onset Parkinson disease.
Age at Onset of Parkinson’s Disease Among Ashkenazi Jewish Patients: Contribution of Environmental Factors, LRRK2 p.G2019S and GBA p.N370S Mutations.
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson’s disease.
Lysosomal dysfunction in Parkinson’s disease; evidence from human genetics.
No evidence for a role of variation in alcohol dehydrogenase genes in the risk for Parkinson’s disease
Genetic and epidemiological characterization of restless legs syndrome in Québec.
Exposure to pesticides and welding hastens the age-at-onset of Parkinson disease.
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s Disease.
Classification of GBA variants and their effects in synucleinopathies.
The Parkinson’s Disease Mendelian Randomization Research Portal.
Revisiting Protein Aggregation as Pathogenic in Sporadic Parkinson’s and Alzheimer’s Diseases.
Neurodegenerative Risk and Predictors of Outcome in Idiopathic REM sleep Behavior Disorder: A Prospective Multicenter study.
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Glucocerbrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia.
Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset.
The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson disease.
The landscape of parkin variants reveals pathogenic mechanisms and therapeutic targets in Parkinson’s disease.
Parkinson disease age at onset GWAS: defining heritability, genetic loci and α-synuclein mechanisms.
Dystonia; a roadmap is needed for future genetic studies.
Triple A syndrome presenting as complicated hereditary spastic paraplegia
Screening of novel Restless Legs Syndrome genes in French-Canadian families
CAPN1 mutations: Expanding the CAPN1-related phenotype: from hereditary spastic paraparesis to spastic ataxia.
Carriers of both GBA and LRRK2 mutations compared to carriers of either in Parkinson’s disease; risk estimates and genotype phenotype correlations.
Common and rare GCH1 variants are associated with Parkinson disease.
Sequencing of the GBA co-activator, Saposin C, in Parkinson disease.
The GBA p.Trp378Gly mutation is a founder French-Canadian mutation causing Gaucher disease and synucleinopathies.
GBA-associated Parkinson’s disease and other synucleinopathies.
Analysis of loss of function variants reveals that LRRK2 haploinsufficiency is not a cause of Parkinson’s Disease.
Increased yield of full GBA sequencing in Ashkenazi Jews with Parkinson’s disease.
Parkinson’s disease phenotype is influenced by the mutation in the GBA gene.
Longstanding disease-free survival in idiopathic REM sleep behavior disorder: Is neurodegeneration inevitable?
Full sequencing and haplotype analysis of MAPT in Parkinson disease and REM sleep behavior disorder
LRRK2 protective haplotype and full sequencing study in REM sleep behavior disorder.
Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysms in the French-Canadian population.
Sleep disorders and Parkinson disease; lessons from genetics.
Alpha galactosidase A activity in Parkinson’s disease.
Association study of Essential Tremor genetic loci in Parkinson’s disease.
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease.
POLR3A variants in hereditary spastic paraplegia and ataxia.
Tandem mass spectrometry assay of β-Glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.
RIC3 variants are not associated with Parkinson’s disease in French-Canadians and French.
Heterozygous PINK1 p.G411S in rapid eye movement sleep behavior disorder.
KCNA2 mutations are rare in hereditary spastic paraplegia.
Clinical and Genetic Study of Hereditary Spastic Paraplegia in Canada.
The dementia-associated APOE e4 allele is not associated with REM sleep behavior disorder.
Dynamics of microtubules and their associated proteins: Recent insights and clinical implications.
RNF213 is associated with Intracranial Aneurysms in the French-Canadian population.
A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated Hereditary Spastic Paraplegia.
Calpain 1 in neurodegeneration; a therapeutic target?
The GBA p.T369M substitution in Parkinson disease, polymorphism or association? A meta-analysis.
Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson’s disease.
Mutations in CAPN1 Cause Autosomal Recessive Hereditary Spastic Paraplegia.
The role of the melanoma gene MC1R in Parkinson disease and REM sleep Behavior Disorder.
SEPT14 is associated with a reduced risk for Parkinson’s disease and expressed in human brain.
De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia.
SCARB2 variants and glucocerebrosidase activity in Parkinson disease.
Genetic and Clinical Predictors of Deep Brain Stimulation in Young-Onset Parkinson’s Disease.
Case-control and family based association study of PTPRD in Restless Legs Syndrome.
Down-regulation of B cell related genes in peripheral blood leukocytes of GBA-associated Parkinson’s disease.
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
The emerging role of SMPD1 mutations in Parkinson’s disease; implications for future studies.
The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease
Published in Journal of Neurology 2015
GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder
Published in Annals of clinical and translational neurology 2015
Genetic perspective on the role of the Autophagy-Lysosome Pathway in Parkinson disease
Published in Autophagy 2015
Glucocerebrosidase activity in Parkinson disease with and without GBA mutations
Published in Brain 2015
PARK16 haplotypes and the importance of protective genetic factors in Parkinson’s disease
Published in Journal of Human Genetics 2015
Analysis of functional GLO1 variants in the BTBD9 locus and Restless Legs Syndrome
Published in Sleep Medicine 2015
LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis
Published in Parkinsonism and Related Disorders 2015
Parkinson’s disease genetic loci in Rapid Eye Movement Sleep Behavior Disorder
Published in Journal of Molecular Neuroscience 2015
A Homozygous Mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly
Published in Clinical Genetics 2015
Genetic markers of Restless Legs Syndrome in Parkinson Disease
Published in Parkinsonism and Related Disorders 2015
Differential effects of severe vs. mild GBA mutations on Parkinson disease
Published in Neurology 2015
CHRNB3 c.-57A>G functional promoter change affects Parkinson’s disease and smoking
Published in Neurobiology of Aging 2014
The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
Published in Neurology 2013
The age at motor symptoms onset in LRRK2-associated Parkinson’s disease is affected by a variation in the MAPT locus; a possible interaction
Published in Journal of Molecular Neuroscience 2012
Sequence alterations in the putative promoter of RAB7L1 are associated with a reduced Parkinson disease risk
Published in JAMA Neurology 2012
Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age at onset in GBA-associated Parkinson’s Disease
Published in Neurogenetics 2011
False-positive results using a Gaucher diagnostic kit–RecTL and N370S
Published in Molecular Genetics and Metabolism 2010
LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease
Published in Neurogenetics 2010
The LRRK2 G2019S mutation as the cause of Parkinson’s disease in Ashkenazi Jews
Published in Journal of Neuronal Transmission 2009
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson Disease
Published in New England Journal of Medicine 2009
Differential phenotype in Parkinson’s disease patients with severe versus mild GBA mutations
Published in Brain 2009
Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset
Published in Neurology 2008