Gisela Nogales-Gadea

School for Mental Health and Neuroscience, Maastricht University

Affiliated withMaastricht University Institut d'Investigació Germans Trias i Pujol

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Biography

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 7	2015

Other Publications

Article	Year
A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance. Journal of the neurological sciences\| PubMed ID: 15050430	2004
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Human mutation\| PubMed ID: 17221871	2007
The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscular disorders : NMD\| PubMed ID: 17560787	2007
Favorable responses to acute and chronic exercise in McArdle patients. Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine\| PubMed ID: 17620784	2007
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Human mutation\| PubMed ID: 17994553	2008
McArdle disease: what do neurologists need to know? Nature clinical practice. Neurology\| PubMed ID: 18833216	2008
The second wind phenomenon in very young McArdle's patients. Neuromuscular disorders : NMD\| PubMed ID: 19477644	2009
Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients. European journal of applied physiology\| PubMed ID: 20683610	2010
Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation. PloS one\| PubMed ID: 20957198	2010
Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort. Age (Dordrecht, Netherlands)\| PubMed ID: 21274636	2012
Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort. Mitochondrion\| PubMed ID: 21856449	2011
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. Journal of neurology, neurosurgery, and psychiatry\| PubMed ID: 22250184	2012
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease. PloS one\| PubMed ID: 22347505	2012
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease. Brain : a journal of neurology\| PubMed ID: 22730558	2012
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy. Annals of neurology\| PubMed ID: 23280477	2013
Clinical and Molecular Characterization of Mcardle's Disease in Brazilian Patients. Neuromolecular medicine\| PubMed ID: 23653251	2013
Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies. The Journal of biological chemistry\| PubMed ID: 24497634	2014
Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg. Neurology\| PubMed ID: 24523485	2014
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis. The Journal of pathology\| PubMed ID: 24604766	2014
Analysis of serum miRNA profiles of myasthenia gravis patients. PloS one\| PubMed ID: 24637658	2014
Proteasome inhibition with bortezomib depletes plasma cells and specific autoantibody production in primary thymic cell cultures from early-onset myasthenia gravis patients. Journal of immunology (Baltimore, Md. : 1950)\| PubMed ID: 24973445	2014
McArdle disease: a unique study model in sports medicine. Sports medicine (Auckland, N.Z.)\| PubMed ID: 25028051	2014
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications. Journal of inherited metabolic disease\| PubMed ID: 25053163	2015
Clinical and scientific aspects of acetylcholine receptor myasthenia gravis. Current opinion in neurology\| PubMed ID: 25105461	2014
McArdle disease does not affect skeletal muscle fibre type profiles in humans. Biology open\| PubMed ID: 25432515	2014
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene. Human mutation\| PubMed ID: 25914343	2015