Lista de obras -

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

artículo científico publicado en 2004

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

artículo científico publicado en 2008

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

article

Absence of mutations in the hypoxia response element of VEGF in ALS

artículo científico publicado en 2003

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

artículo científico publicado en 2020

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

scientific article published on 31 October 2020

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

artículo científico publicado en 2006

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

artículo científico publicado en 2014

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

artículo científico publicado en 2004

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

artículo científico publicado en 2004

CCM3 mutations are uncommon in cerebral cavernous malformations

artículo científico publicado en 2005

Characterization of a novel SPG3A deletion in a French-Canadian family

artículo científico publicado en 2007

Clinical stringency greatly improves mutation detection in Rett syndrome

artículo científico publicado en 2005

Common and rare GCH1 variants are associated with Parkinson's disease

scientific article published on 15 September 2018

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder

artículo científico publicado en 2020

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

artículo científico publicado en 2012

Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies

scientific article published on 12 February 2020

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

scholarly article by Jiao Li et al published July 2018 in Movement Disorders

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

scientific article published on 18 November 2019

Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation

artículo científico publicado en 2003

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

artículo científico publicado en 2003

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

artículo científico publicado en 2016

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

artículo científico publicado en 2006

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

artículo científico publicado en 2005

No CCM2 mutations in a cohort of 31 sporadic cases

artículo científico publicado en 2004

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

scientific article published on 19 October 2017

Novel Associations of <i>BST1</i> and <i>LAMP3</i> with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2021

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

artículo científico publicado en 2015

Novel de novo SHANK3 mutation in autistic patients

artículo científico publicado en 2009

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

Rare deleterious variants in GRHL3 are associated with human spina bifida

artículo científico publicado en 2017

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

artículo científico publicado en 2019

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

artículo científico publicado en 2010

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

artículo científico publicado en 2017

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

artículo científico publicado en 2016

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

artículo científico publicado en 2020

Lista de obras de

A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis

A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy

Absence of Mutation Enrichment for Genes Phylogenetically Conserved in the Olivocerebellar Motor Circuitry in a Cohort of Canadian Essential Tremor Cases

Absence of mutations in the hypoxia response element of VEGF in ALS

Analysis of common and rare VPS13C variants in late-onset Parkinson disease

Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease

Autism spectrum disorders associated with X chromosome markers in French-Canadian males

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

CCM1 mutation screen of sporadic cases with cerebral cavernous malformations

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations

CCM3 mutations are uncommon in cerebral cavernous malformations

Characterization of a novel SPG3A deletion in a French-Canadian family

Clinical stringency greatly improves mutation detection in Rett syndrome

Common and rare GCH1 variants are associated with Parkinson's disease

Comprehensive Analysis of Familial Parkinsonism Genes in Rapid-Eye-Movement Sleep Behavior Disorder

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies

Linkage to the CCM2 locus and genetic heterogeneity in familial cerebral cavernous malformation

Mutation screening of FOXP2 in individuals diagnosed with autistic disorder

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population

No CCM2 mutations in a cohort of 31 sporadic cases

No rare deleterious variants from STK32B, PPARGC1A, and CTNNA3 are associated with essential tremor

Novel Associations of <i>BST1</i> and <i>LAMP3</i> with Rapid Eye Movement Sleep Behavior Disorder

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Novel de novo SHANK3 mutation in autistic patients

Oligogenicity, C9orf72 expansion, and variant severity in ALS

Rare deleterious variants in GRHL3 are associated with human spina bifida

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population

The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder

Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease