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List of works by Gisela Nogales

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

scientific article published on 14 October 2019

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

scientific article published in January 2018

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

scientific article published in April 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.

scientific article

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

scientific article

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

scientific article published on 29 April 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.

scientific article

Antibodies against peripheral nerve antigens in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 31 October 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

scientific article published on 28 January 2011

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

scientific article published on 31 October 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.

scientific article published on October 2014

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

scientific article

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

article

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

scientific article

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

scientific article

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

scientific article published on 01 February 2008

Favorable responses to acute and chronic exercise in McArdle patients

scientific article published on 01 July 2007

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

scientific article

Genes and exercise intolerance: insights from McArdle disease

scientific article published on 13 October 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in May 2017

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

scientific article published on 20 June 2018

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

scientific article published on 03 June 2015

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

scientific article

McArdle disease: a unique study model in sports medicine.

scientific article

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

scientific article published on 24 September 2015

Missense mutations have unexpected consequences: The McArdle disease paradigm

scientific article published on 26 July 2018

Molecular genetics of McArdle's disease.

scientific article

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

scientific article published on 31 March 2016

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

scientific article published on 7 January 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?

scientific article published on 03 May 2006

Myotilinopathy unmasked by statin treatment: A case report.

scientific article published on 19 January 2018

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

scientific article

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

scientific article

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

scientific article

Non-osteogenic muscle hypertrophy in children with McArdle disease.

scientific article published on 28 March 2018

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

scientific article published on 01 March 2009

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

scientific article published on 17 December 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

scientific article

Rodent models for resolving extremes of exercise and health

scientific article published on 22 September 2015

Senescence plays a role in Myotonic Dystrophy type 1

scientific article published in 2022

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

scientific article published on 04 February 2014

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

scientific article published on 25 February 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.

scientific article

The second wind phenomenon in very young McArdle’s patients

scientific article published on 27 May 2009

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

scientific article published on 01 September 2007

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