Lista de obras - Gisela Nogales - Dominio Público Uruguay

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

artículo científico publicado en 2019

A New Condition in McArdle Disease: Poor Bone Health-Benefits of an Active Lifestyle.

artículo científico publicado en 2018

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.

artículo científico publicado en 2004

A novel mutation in the valosin-containing-protein gene found in a Spanish family

article

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

artículo científico publicado en 2007

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

artículo científico publicado en 2012

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

artículo científico publicado en 2014

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

scientific article published on 22 September 2020

Analysis of serum miRNA profiles of myasthenia gravis patients.

artículo científico publicado en 2014

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

artículo científico publicado en 2017

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort

article

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

artículo científico publicado en 2011

Characterization of an anti-fetal AChR monoclonal antibody isolated from a myasthenia gravis patient.

artículo científico publicado en 2017

Clinical and molecular characterization of McArdle's disease in Brazilian patients

scientific article published on 08 May 2013

Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.

artículo científico

Delivery is key: lessons learnt from developing splice-switching antisense therapies

artículo científico publicado en 2017

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

article

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

artículo científico publicado en 2015

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

artículo científico publicado en 2010

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

artículo científico publicado en 2008

Favorable responses to acute and chronic exercise in McArdle patients

artículo científico publicado en 2007

Generation of Recombinant Human IgG Monoclonal Antibodies from Immortalized Sorted B Cells.

artículo científico publicado en 2015

Genes and exercise intolerance: insights from McArdle disease

artículo científico

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

artículo científico publicado en 2012

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

artículo científico publicado en 2017

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

artículo científico publicado en 2012

Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.

artículo científico publicado en 2017

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

artículo científico publicado en 2018

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

artículo científico

McArdle disease does not affect skeletal muscle fibre type profiles in humans.

artículo científico publicado en 2014

McArdle disease: a unique study model in sports medicine.

artículo científico publicado en 2014

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

artículo científico publicado en 2015

Missense mutations have unexpected consequences: The McArdle disease paradigm

artículo científico publicado en 2018

Molecular genetics of McArdle's disease.

artículo científico publicado en 2007

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model

artículo científico publicado en 2016

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

artículo científico publicado en 2018

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

artículo científico publicado en 2006

Myotilinopathy unmasked by statin treatment: A case report.

artículo científico publicado en 2018

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

artículo científico publicado en 2014

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

artículo científico publicado en 2015

Niemann-Pick disease treatment: a systematic review of clinical trials

artículo científico publicado en 2015

Non-osteogenic muscle hypertrophy in children with McArdle disease.

artículo científico publicado en 2018

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

artículo científico publicado en 2009

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

artículo científico publicado en 2020

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

scientific article published on 07 November 2020

Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients

artículo científico publicado en 2014

Rodent models for resolving extremes of exercise and health

artículo científico publicado en 2015

Senescence plays a role in Myotonic Dystrophy type 1

artículo científico publicado en 2022

Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.

artículo científico publicado en 2014

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

artículo científico publicado en 2016

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease

article

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

scientific article published on 04 December 2020

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

scientific article published on 07 July 2020

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

artículo científico publicado en 2014

The second wind phenomenon in very young McArdle’s patients

artículo científico publicado en 2009

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]

scientific article published on 01 September 2007

Lista de obras de Gisela Nogales

A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype

A New Condition in McArdle Disease: Poor Bone Health-Benefits of an Active Lifestyle.

A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.

A novel mutation in the valosin-containing-protein gene found in a Spanish family

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

Analysis of serum miRNA profiles of myasthenia gravis patients.

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort

Characterization of an anti-fetal AChR monoclonal antibody isolated from a myasthenia gravis patient.

Clinical and molecular characterization of McArdle's disease in Brazilian patients

Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.

Delivery is key: lessons learnt from developing splice-switching antisense therapies

Dysferlin expression in monocytes: A source of mRNA for mutation analysis

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

Favorable responses to acute and chronic exercise in McArdle patients

Generation of Recombinant Human IgG Monoclonal Antibodies from Immortalized Sorted B Cells.

Genes and exercise intolerance: insights from McArdle disease

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Low versus high carbohydrates in the diet of the world-class athlete: insights from McArdle's disease.

Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene

McArdle disease does not affect skeletal muscle fibre type profiles in humans.

McArdle disease: a unique study model in sports medicine.

Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Missense mutations have unexpected consequences: The McArdle disease paradigm

Molecular genetics of McArdle's disease.

Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Myotilinopathy unmasked by statin treatment: A case report.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease

Niemann-Pick disease treatment: a systematic review of clinical trials

Non-osteogenic muscle hypertrophy in children with McArdle disease.

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models

Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1

Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients

Rodent models for resolving extremes of exercise and health

Senescence plays a role in Myotonic Dystrophy type 1

Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.

Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle’s disease

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

The Need for Establishing a Universal CTG Sizing Method in Myotonic Dystrophy Type 1

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

The second wind phenomenon in very young McArdle’s patients

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]