List of works - Anne Noreau

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

scientific article published on 01 January 2012

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

scientific article published in June 2009

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

scientific article

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

scientific article

Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease

scientific article

Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness

scientific article

Early influence of the rs4675690 on the neural substrates of sadness

scientific article published on 31 July 2011

Exome sequencing identifies FUS mutations as a cause of essential tremor

scientific article

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

scientific article

Exome sequencing reveals SPG11 mutations causing juvenile ALS

scientific article published on 10 December 2011

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

article

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort ⬇️

scientific article published on September 1, 2011

Increased exonic de novo mutation rate in individuals with schizophrenia

scientific article published on 10 July 2011

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

scientific article published on December 27, 2012

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Molecular aspects of hereditary spastic paraplegia

scientific article published on 11 March 2014

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

scientific article

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

scientific article published on 11 August 2015

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

scientific article

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

scientific article published on 27 June 2011

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

scientific article

SYNE1 mutations in autosomal recessive cerebellar ataxia

scientific article

Therapies for ataxias

scientific article published on 01 July 2014

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

scientific article

List of works by Anne Noreau

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

Dopamine transporter SLC6A3 genotype affects cortico-striatal activity of set-shifts in Parkinson's disease

Early impact of 5-HTTLPR polymorphism on the neural correlates of sadness

Early influence of the rs4675690 on the neural substrates of sadness

Exome sequencing identifies FUS mutations as a cause of essential tremor

Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

Exome sequencing reveals SPG11 mutations causing juvenile ALS

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia

Glucocerebrosidase Mutations in a French-Canadian Parkinson's Disease Cohort ⬇️

Increased exonic de novo mutation rate in individuals with schizophrenia

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

Molecular aspects of hereditary spastic paraplegia

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.

SYNE1 mutations in autosomal recessive cerebellar ataxia

Therapies for ataxias

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia