Gisela Nogales-Gadea

Gisela Nogales-Gadea

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Gisela Nogales-Gadea

Gisela Nogales-Gadea

Publications by authors named "Gisela Nogales-Gadea"

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Sex Differences and the Influence of an Active Lifestyle on Adiposity in Patients with McArdle Disease.

Int J Environ Res Public Health 2020 Jun 17;17(12). Epub 2020 Jun 17.

GENUD Toledo Research Group, Universidad de Castilla-La Mancha, 45071 Toledo, Spain.

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http://dx.doi.org/10.3390/ijerph17124334DOI Listing
June 2020

COST Actions: fostering collaborative research for rare diseases.

Lancet Neurol 2019 11;18(11):989-991

Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Bizkaia, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Spain.

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http://dx.doi.org/10.1016/S1474-4422(19)30366-7DOI Listing
November 2019

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

J Inherit Metab Dis 2018 11 20;41(6):1027-1035. Epub 2018 Jun 20.

Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.

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http://link.springer.com/10.1007/s10545-018-0203-2
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http://dx.doi.org/10.1007/s10545-018-0203-2DOI Listing
November 2018

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

J Inherit Metab Dis 2018 Nov;41(6):1295

Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-018-0236-6DOI Listing
November 2018

Missense mutations have unexpected consequences: The McArdle disease paradigm.

Hum Mutat 2018 10 26;39(10):1338-1343. Epub 2018 Jul 26.

Grupo de Investigación de Enfermedades Mitocondriales y Neuromusculares, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

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http://doi.wiley.com/10.1002/humu.23591
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http://dx.doi.org/10.1002/humu.23591DOI Listing
October 2018

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

J Neurol Sci 2018 08 13;391:112-113. Epub 2018 Jun 13.

Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Barcelona, Spain; Grup de Recerca en Malalties Neuromusculars i Neuropediatriques, Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Universitat Autònoma de Barcelona, Badalona, Spain.

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http://dx.doi.org/10.1016/j.jns.2018.06.010DOI Listing
August 2018

Myotilinopathy unmasked by statin treatment: A case report.

Muscle Nerve 2018 06 2;57(6):E138-E140. Epub 2018 Feb 2.

Neuromuscular Diseases Unit, Department of Neurosciences, Hospital Germans Trias i Pujol, Badalona, Spain.

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http://dx.doi.org/10.1002/mus.26078DOI Listing
June 2018

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

Med Sci Sports Exerc 2016 08;48(8):1448-58

1Mitochondrial and Neuromuscular Diseases Laboratory and "MITOLAB-CM," Research Institute of Hospital "12 de Octubre" ("i + 12"), Madrid, SPAIN; 2Neuromuscular and Neuropediatric Research Group, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 3Department of Research and Doctorate Studies, European University, Madrid, SPAIN; 4Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; and 5Spanish Network for Biomedical Research in Rare Diseases (CIBERER), U723, Madrid, SPAIN.

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http://dx.doi.org/10.1249/MSS.0000000000000931DOI Listing
August 2016

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Med Sci Sports Exerc 2016 Apr;48(4):673-9

1Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, SPAIN; 2Sports Sciences and Computing Department, Pablo de Olavide University, Sevilla, SPAIN; 312 de Octubre Hospital Research Institute (i + 12), Madrid, SPAIN; 4Mitochondrial and Neuromuscular Diseases Laboratory, 12 de Octubre Hospital, Madrid, SPAIN; 5Centre for Biomedical Network Research on Rare Diseases (CIBERER), Carlos III Health Institute, Madrid, SPAIN; 6Centre for Sports Medicine and Human Performance, Brunel University, London, UNITED KINGDOM; 7Neuromuscular and Mitochondrial Pathology Department, Vall d'Hebron University Hospital, Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, SPAIN; 8Rare Diseases Unit, Pediatric Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; 9Neuromuscular Unit Neurology Service, Germans Trias i Pujol University Hospital, Badalona, Barcelona, SPAIN; and 10School of Research and Doctorate Studies, European University, Madrid, SPAIN.

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http://dx.doi.org/10.1249/MSS.0000000000000812DOI Listing
April 2016

Rodent models for resolving extremes of exercise and health.

Physiol Genomics 2016 Feb 22;48(2):82-92. Epub 2015 Sep 22.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol i Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain; and Instituto de Investigación Hospital 12 de Octubre (i+12) and Universidad Europea, Madrid, Spain.

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http://dx.doi.org/10.1152/physiolgenomics.00077.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729696PMC
February 2016

Genes and exercise intolerance: insights from McArdle disease.

Physiol Genomics 2016 Feb 13;48(2):93-100. Epub 2015 Oct 13.

Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain; and Universidad Europea, Madrid, Spain.

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http://physiolgenomics.physiology.org/content/physiolgenomic
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http://physiolgenomics.physiology.org/lookup/doi/10.1152/phy
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http://dx.doi.org/10.1152/physiolgenomics.00076.2015DOI Listing
February 2016

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

Muscle Nerve 2015 Dec 24;52(6):1136-7. Epub 2015 Sep 24.

Department of Neurosciences, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol I Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain.

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http://dx.doi.org/10.1002/mus.24789DOI Listing
December 2015

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

Ann Transl Med 2015 Dec;3(22):360

1 Research Institute of Hospital 12 de Octubre ("i+12"), Madrid, Spain ; 2 GIDFYS, Department of Health Sciences, European University Miguel de Cervantes, Valladolid, Spain ; 3 Faculty of Health Science, University of León, Ponferrada, Spain ; 4 Department of Physiotherapy and Nursing, University of Zaragoza, Huesca, Spain ; 5 GENUD (Growth, Exercise, Nutrition and Development) Research Group, University of Zaragoza, Zaragoza, Spain ; 6 Translational Research Laboratoy in Neuromuscular Diseases, Neurosciences Department, Germans Trias i Pujol Research Institute and Campus Can Ruti, Autonomous University of Barcelona, Badalona, Spain ; 7 European University, Madrid, Spain.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.12.04DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4701532PMC
December 2015

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

Genet Med 2015 Aug;17(8):679-80

1] Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain [2] Universidad Europea, Madrid, Spain.

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http://dx.doi.org/10.1038/gim.2015.76DOI Listing
August 2015

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

Hum Mutat 2015 Jul 3;36(7):669-78. Epub 2015 Jun 3.

Departament de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d'Hebron, Institut de Recerca (VHIR), , Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.22806DOI Listing
July 2015

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

J Inherit Metab Dis 2015 Mar 23;38(2):221-30. Epub 2014 Jul 23.

Neuromuscular Diseases Unit, Institut de Recerca del Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Av. Maria Claret 167, 08025, Barcelona, Spain,

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http://dx.doi.org/10.1007/s10545-014-9743-2DOI Listing
March 2015

Analysis of serum miRNA profiles of myasthenia gravis patients.

PLoS One 2014 17;9(3):e91927. Epub 2014 Mar 17.

Neuromuscular Diseases Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autonoma de Barcelona, Barcelona, Spain; CIBER de enfermedades neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0091927PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956820PMC
January 2015

McArdle disease: a unique study model in sports medicine.

Sports Med 2014 Nov;44(11):1531-44

Universidad Pablo Olavide, Sevilla, Spain.

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http://dx.doi.org/10.1007/s40279-014-0223-5DOI Listing
November 2014

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

Biol Open 2014 Nov 28;3(12):1224-7. Epub 2014 Nov 28.

Mitochondrial and Neuromuscular Diseases Laboratory, i+12 Research Institute, Hospital 12 de Octubre, 28041 Madrid, Spain European University of Madrid, 28670 Madrid, Spain.

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http://dx.doi.org/10.1242/bio.20149548DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265760PMC
November 2014

Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.

Curr Opin Neurol 2014 Oct;27(5):552-7

aDepartment of Cardiothoracic Surgery and Pulmonology, Maastricht University Medical Centre, Maastricht and GROW School for Oncology and Developmental Biology, Maastricht University bSchool for Mental Health and Neuroscience, MHeNS, Maastricht University Medical Centre, Maastricht, The Netherlands cNeuromuscular DiseasesUnit, Institut de Recerca del Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain *Marlies Keijzers and Gisela Nogales-Gadea contributed equally to the writing of this article.

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http://dx.doi.org/10.1097/WCO.0000000000000125DOI Listing
October 2014

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

J Pathol 2014 Jul 29;233(3):258-68. Epub 2014 Apr 29.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona and Institut de Recerca Sant Pau, Barcelona, Spain; Centro Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

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http://dx.doi.org/10.1002/path.4346DOI Listing
July 2014

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

J Biol Chem 2014 Mar 4;289(11):7907-18. Epub 2014 Feb 4.

From Aix-Marseille Université, CNRS, Centre de Recherche en Neurobiologie et Neurophysiologie de Marseille-UMR7286, 13344 Marseille, France.

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http://dx.doi.org/10.1074/jbc.M113.528489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953301PMC
March 2014

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

Neurology 2014 Mar 12;82(10):879-86. Epub 2014 Feb 12.

From the Neuromuscular Diseases Unit (L.Q., G.N.-G., R.R.-G., J.D.-M., E.G., R.B., I.I.), Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona; Centro para la Investigación Biomédica en Red en Enfermedades Neurodegenerativas (L.Q., G.N.-G., R.R.-G., J.D.-M., M.J.S., E.G., J.B., I.I.), CIBERNED, Madrid; Department of Neurology (J.P.), Hospital Clínico de Santiago, Santiago de Compostela; Department of Neurology (A.O.-M.), Hospital Virgen de las Nieves, Granada; Department of Neurology (M.J.S., J.B.), University Hospital Marqués de Valdecilla (IFIMAV) and University of Cantabria; Department of Neurology (J.D.), Hospital Clinic, Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona; and Institució Catalana de Recerca i Estudis Avançats (J.D.), Barcelona, Spain.

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http://dx.doi.org/10.1212/WNL.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959751PMC
March 2014

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

Neuromolecular Med 2013 Sep 8;15(3):470-5. Epub 2013 May 8.

Department of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Rua Santa Catarina, 1042 apt: 201, Belo Horizonte, MG, Brazil.

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http://genoma.ib.usp.br/sites/default/files/publicacoes/clin
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http://link.springer.com/content/pdf/10.1007/s12017-013-8233
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http://dx.doi.org/10.1007/s12017-013-8233-2DOI Listing
September 2013

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.

Ann Neurol 2013 Mar 31;73(3):370-80. Epub 2012 Dec 31.

Neuromuscular Diseases Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.23794DOI Listing
March 2013

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

Brain 2012 Jul 21;135(Pt 7):2048-57. Epub 2012 Jun 21.

Laboratori de Patologia Mitocondrial i Neuromuscular, Hospital Universitari Vall d’Hebron, Institut de Recerca (VHIR), Universitat Auto` noma deBarcelona, 08035 Barcelona, Spain.

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http://brain.oxfordjournals.org/content/brain/135/7/2048.ful
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/aws141DOI Listing
July 2012

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

Mitochondrion 2011 Nov 11;11(6):905-8. Epub 2011 Aug 11.

Departament de Patología Mitocondrial i Neuromuscular, Institut de Recerca Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.mito.2011.08.002DOI Listing
November 2011

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

Eur J Appl Physiol 2010 Nov 4;110(5):1047-55. Epub 2010 Aug 4.

UCT/MRC Research Unit for Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Sciences, University of Cape Town, Newlands, Cape Town, South Africa.

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http://dx.doi.org/10.1007/s00421-010-1585-5DOI Listing
November 2010

The second wind phenomenon in very young McArdle's patients.

Neuromuscul Disord 2009 Jun 27;19(6):403-5. Epub 2009 May 27.

Universidad Europea de Madrid (Polideportivo), 28670 Villaviciosa de Odón, Madrid, Spain.

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http://dx.doi.org/10.1016/j.nmd.2009.04.010DOI Listing
June 2009

McArdle disease: what do neurologists need to know?

Nat Clin Pract Neurol 2008 Oct;4(10):568-77

Department of Physiology, Universidad Europea de Madrid, Madrid, Spain.

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http://dx.doi.org/10.1038/ncpneuro0913DOI Listing
October 2008

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

Hum Mutat 2008 Feb;29(2):277-83

Departament de Patologia Mitocondrial i Neuromuscular, Institut de Recerca, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.20649DOI Listing
February 2008

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

J Neurol Sci 2004 Apr;219(1-2):1-6

Neurology Department, Hospital General. Universitari Vall d'Hebron, Servicio de Neurologia, Passeig Vall d'Hebron 113-135, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jns.2003.10.018DOI Listing
April 2004