Lista de obras -

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

artículo científico publicado en 2013

CYP7B1 Mutations in French-Canadian Hereditary Spastic Paraplegia Subjects ⬇️

artículo científico publicado el 1 de enero de 2012

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Early influence of the rs4675690 on the neural substrates of sadness

artículo científico publicado en 2011

Exome sequencing identifies FUS mutations as a cause of essential tremor

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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 ⬇️

artículo científico publicado el 1 de septiembre de 2011

Increased exonic de novo mutation rate in individuals with schizophrenia

artículo científico publicado en 2011

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

artículo científico publicado el 27 de diciembre de 2012

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

artículo científico publicado en 2014

Molecular aspects of hereditary spastic paraplegia

artículo científico publicado en 2014

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Restless legs syndrome-associated MEIS1 risk variant influences iron homeostasis

artículo científico publicado en 2011

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

artículo científico publicado en 2016

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Therapies for ataxias

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Lista de obras de

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