Lista de obras - Nicolas Dupré - Dominio Público Uruguay

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

article

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

artículo científico publicado en 2001

A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling

artículo científico publicado en 2015

A case of familial Creutzfeldt-Jakob disease presenting with dry cough.

artículo científico publicado en 2006

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

artículo científico publicado en 2010

A national spinal muscular atrophy registry for real world evidence

scientific article published on 04 June 2020

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

artículo científico publicado en 2009

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

artículo científico publicado en 2008

Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

artículo científico publicado en 2005

An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 22 de febrero de 2012

Association study of essential tremor genetic loci in Parkinson's disease

artículo científico publicado en 2018

Autosomal dominant primary lateral sclerosis

artículo científico publicado en 2007

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

artículo científico publicado en 2008

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

artículo científico publicado en 2007

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

scientific article published on 20 February 2020

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

artículo científico publicado en 2009

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

artículo científico publicado en 2007

Clinical and genetic study of hereditary spastic paraplegia in Canada

artículo científico publicado en 2016

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

artículo científico publicado en 2008

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways

artículo científico publicado en 2011

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

artículo científico publicado en 2015

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

Familial Alzheimer disease in Canada.

artículo científico publicado en 2010

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

scientific article published on 12 February 2020

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

artículo científico publicado en 2008

From animal models to human disease: a genetic approach for personalized medicine in ALS

artículo científico publicado en 2016

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 and epidemiological study of adult ataxia and spastic paraplegia in eastern Quebec

scientific article published on 05 January 2021

Genetic markers of Restless Legs Syndrome in Parkinson disease

artículo científico publicado en 2015

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

artículo científico publicado en 2018

Genome-wide association study in essential tremor identifies three new loci

artículo científico publicado en 2016

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

artículo científico publicado el 1 de septiembre de 2011

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

artículo científico publicado en 2006

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

artículo científico publicado en 2003

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

artículo científico publicado el 24 de enero de 2011

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

artículo científico publicado en 2013

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

artículo científico publicado el 27 de diciembre de 2012

KCNA2 mutations are rare in hereditary spastic paraplegia

artículo científico publicado en 2016

LINGO1 variants in the French-Canadian population

artículo científico publicado en 2011

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

artículo científico publicado en 2003

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

artículo científico publicado en 2018

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

artículo científico publicado el 10 de octubre de 2012

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

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

artículo científico publicado en 2009

POLR3A variants in hereditary spastic paraplegia and ataxia

artículo científico publicado en 2017

Physician-assisted death: A Canada-wide survey of ALS health care providers

artículo científico publicado en 2016

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

artículo científico publicado en 2016

Propofol-related infusion syndrome heralding a mitochondrial disease: Case report ⬇️

artículo científico publicado el 19 de julio de 2013

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

artículo científico publicado en 2017

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

artículo científico publicado en 2016

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2015

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

artículo científico publicado en 2007

SYNE1 mutations in autosomal recessive cerebellar ataxia

artículo científico publicado en 2013

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

scholarly article by Bouchra Ouled Amar Bencheikh et al published 2 July 2018 in Neurobiology of Aging

Systematic review of autosomal recessive ataxias and proposal for a classification

artículo científico publicado en 2017

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects

artículo científico publicado en 2018

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

artículo científico publicado en 2017

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

artículo científico publicado en 2002

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The Puzzle of Huntington Disease Phenocopies

artículo científico publicado en 2016

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

artículo científico publicado en 2016

The influence of vascular risk factors on cognitive function in early Parkinson's disease

artículo científico

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

artículo científico publicado en 2016

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

artículo científico publicado en 2007

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 Nicolas Dupré

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling

A case of familial Creutzfeldt-Jakob disease presenting with dry cough.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

A national spinal muscular atrophy registry for real world evidence

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

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

Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis

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

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

Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis ⬇️

Association study of essential tremor genetic loci in Parkinson's disease

Autosomal dominant primary lateral sclerosis

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

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

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34

Chromogranin B P413L variant as risk factor and modifier of disease onset for amyotrophic lateral sclerosis

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Clinical and genetic study of hereditary spastic paraplegia in Canada

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians

Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome

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

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways

Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients

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

Familial Alzheimer disease in Canada.

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

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

From animal models to human disease: a genetic approach for personalized medicine in ALS

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

Genetic and epidemiological study of adult ataxia and spastic paraplegia in eastern Quebec

Genetic markers of Restless Legs Syndrome in Parkinson disease

Genome-wide association analysis identifies new candidate risk loci for familial intracranial aneurysm in the French-Canadian population

Genome-wide association study in essential tremor identifies three new loci

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

Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis ⬇️

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis

Investigation of C9orf72 repeat expansions in Parkinson's disease ⬇️

KCNA2 mutations are rare in hereditary spastic paraplegia

LINGO1 variants in the French-Canadian population

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

Misfolded SOD1 pathology in sporadic Amyotrophic Lateral Sclerosis

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients ⬇️

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

No TARDBP mutations in a French Canadian population of patients with Parkinson disease

POLR3A variants in hereditary spastic paraplegia and ataxia

Physician-assisted death: A Canada-wide survey of ALS health care providers

Pompe Disease: Diagnosis and Management. Evidence-Based Guidelines from a Canadian Expert Panel

Propofol-related infusion syndrome heralding a mitochondrial disease: Case report ⬇️

RIC3 variants are not associated with Parkinson's disease in French-Canadians and French

RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

SPG4 founder effect in French Canadians with hereditary spastic paraplegia.

SYNE1 mutations in autosomal recessive cerebellar ataxia

Sequencing of the GBA coactivator, Saposin C, in Parkinson disease

Systematic review of autosomal recessive ataxias and proposal for a classification

TOX3 Variants Are Involved in Restless Legs Syndrome and Parkinson's Disease with Opposite Effects

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

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

The Project MinE databrowser: bringing large-scale whole-genome sequencing in ALS to researchers and the public

The Puzzle of Huntington Disease Phenocopies

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

The influence of vascular risk factors on cognitive function in early Parkinson's disease

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

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

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