Lista de obras - Paul N. Valdmanis - 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 large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

artículo científico publicado en 2009

A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

artículo científico publicado en 2008

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

artículo científico publicado en 2010

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

artículo científico publicado en 2009

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

artículo científico publicado en 2009

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

artículo científico publicado en 2007

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

artículo científico publicado en 2010

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

artículo científico publicado en 2008

Autosomal dominant primary lateral sclerosis

artículo científico publicado en 2007

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

artículo científico publicado en 2008

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

artículo científico publicado en 2008

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

artículo científico publicado en 2010

Future of rAAV Gene Therapy: Platform for RNAi, Gene Editing, and Beyond

artículo científico publicado en 2017

Genetics of familial amyotrophic lateral sclerosis

artículo científico publicado en 2008

Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis

artículo científico publicado en 2010

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

artículo científico publicado en 2013

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2009

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

artículo científico publicado en 2007

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

artículo científico publicado en 2007

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

artículo científico publicado en 2012

Promoterless gene targeting without nucleases ameliorates haemophilia B in mice.

artículo científico publicado en 2014

RNA interference-induced hepatotoxicity results from loss of the first synthesized isoform of microRNA-122 in mice.

artículo científico publicado en 2016

Recent advances in the genetics of amyotrophic lateral sclerosis

artículo científico publicado en 2009

Regulation of microRNA-mediated gene silencing by microRNA precursors.

artículo científico publicado en 2014

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2011

TRviz: a Python library for decomposing and visualizing tandem repeat sequences

artículo científico publicado en 2023

The loop position of shRNAs and pre-miRNAs is critical for the accuracy of dicer processing in vivo

artículo científico publicado en 2012

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease

artículo científico publicado en 2009

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

artículo científico publicado en 2007

Upregulation of the microRNA cluster at the Dlk1-Dio3 locus in lung adenocarcinoma

artículo científico publicado en 2013

Lista de obras de Paul N. Valdmanis

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 large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS

A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

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

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden

Autosomal dominant primary lateral sclerosis

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Future of rAAV Gene Therapy: Platform for RNAi, Gene Editing, and Beyond

Genetics of familial amyotrophic lateral sclerosis

Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis

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

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Promoterless gene targeting without nucleases ameliorates haemophilia B in mice.

RNA interference-induced hepatotoxicity results from loss of the first synthesized isoform of microRNA-122 in mice.

Recent advances in the genetics of amyotrophic lateral sclerosis

Regulation of microRNA-mediated gene silencing by microRNA precursors.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis

TRviz: a Python library for decomposing and visualizing tandem repeat sequences

The loop position of shRNAs and pre-miRNAs is critical for the accuracy of dicer processing in vivo

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease

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

Upregulation of the microRNA cluster at the Dlk1-Dio3 locus in lung adenocarcinoma