Lista de obras -

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

artículo científico publicado en 2015

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

artículo científico publicado en 2014

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

artículo científico publicado en 2017

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

article

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

artículo científico publicado en 2012

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

artículo científico publicado en 2019

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

artículo científico publicado en 2016

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

artículo científico publicado en 2015

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

artículo científico publicado en 2012

Behavioral profiles of mouse models for autism spectrum disorders

artículo científico publicado en 2011

Both rare and common genetic variants contribute to autism in the Faroe Islands

scientific article published on 21 January 2019

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

artículo científico publicado en 2016

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

artículo científico publicado en 2016

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

scientific article published on 07 January 2021

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

artículo científico publicado en 2014

Dissection of genetic factors associated with amyotrophic lateral sclerosis

artículo científico publicado en 2014

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

scientific article published on 01 July 2019

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

artículo científico publicado en 2014

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

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

artículo científico publicado en 2015

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetic markers of Restless Legs Syndrome in Parkinson disease

artículo científico publicado en 2015

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders

Heritability of the melatonin synthesis variability in autism spectrum disorders

artículo científico publicado en 2017

Heterozygous FA2H mutations in autism spectrum disorders

artículo científico publicado en 2013

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

artículo científico publicado en 2018

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

artículo científico publicado en 2015

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

artículo científico publicado en 2010

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

artículo científico publicado en 2015

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

artículo científico publicado en 2014

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

artículo científico publicado en 2016

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

scientific article published on 19 October 2017

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

artículo científico publicado en 2015

Oligogenicity, C9orf72 expansion, and variant severity in ALS

scientific article published on 08 May 2020

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

artículo científico publicado en 2015

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

artículo científico publicado en 2016

SHANK1 Deletions in Males with Autism Spectrum Disorder

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Social and non-social autism symptoms and trait domains are genetically dissociable

scientific article published on 03 September 2019

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues

Stratifying the autistic phenotype using electrophysiological indices of social perception

artículo científico publicado en 2022

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

artículo científico publicado en 2017

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

artículo científico publicado en 2013

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

artículo científico publicado en 2016

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations

artículo científico publicado en 2011

Lista de obras de

11q24.2-25 micro-rearrangements in autism spectrum disorders: Relation to brain structures.

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

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

Absence of deficits in social behaviors and ultrasonic vocalizations in later generations of mice lacking neuroligin4.

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease

Analysis of functional GLO1 variants in the BTBD9 locus and restless legs syndrome

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

Behavioral profiles of mouse models for autism spectrum disorders

Both rare and common genetic variants contribute to autism in the Faroe Islands

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

De novo FUS P525L mutation in Juvenile amyotrophic lateral sclerosis with dysphonia and diplopia

Decreased phenol sulfotransferase activities associated with hyperserotonemia in autism spectrum disorders

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

Dissection of genetic factors associated with amyotrophic lateral sclerosis

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

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

GBA mutations are associated with Rapid Eye Movement Sleep Behavior Disorder

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Genetic markers of Restless Legs Syndrome in Parkinson disease

Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders

Heritability of the melatonin synthesis variability in autism spectrum disorders

Heterozygous FA2H mutations in autism spectrum disorders

Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

LRRK2 mutations in Parkinson disease; a sex effect or lack thereof? A meta-analysis

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

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

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

Oligogenicity, C9orf72 expansion, and variant severity in ALS

Parkinson's Disease Genetic Loci in Rapid Eye Movement Sleep Behavior Disorder.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

SHANK1 Deletions in Males with Autism Spectrum Disorder

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

Social and non-social autism symptoms and trait domains are genetically dissociable

Somatic expansion of the hexanucleotide repeat does not occur in ALS spinal cord tissues

Stratifying the autistic phenotype using electrophysiological indices of social perception

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

The Autism ProSAP1/Shank2 mouse model displays quantitative and structural abnormalities in ultrasonic vocalisations

The dementia-associated APOE ε4 allele is not associated with rapid eye movement sleep behavior disorder

Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations