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School for Mental Health and Neuroscience
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A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance.
Journal of the neurological sciences Apr, 2004 | Pubmed ID: 15050430
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Human mutation Feb, 2007 | Pubmed ID: 17221871
The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.
Neuromuscular disorders : NMD Aug, 2007 | Pubmed ID: 17560787
Favorable responses to acute and chronic exercise in McArdle patients.
Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine Jul, 2007 | Pubmed ID: 17620784
Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.
Human mutation Feb, 2008 | Pubmed ID: 17994553
McArdle disease: what do neurologists need to know?
Nature clinical practice. Neurology Oct, 2008 | Pubmed ID: 18833216
The second wind phenomenon in very young McArdle's patients.
Neuromuscular disorders : NMD Jun, 2009 | Pubmed ID: 19477644
Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.
European journal of applied physiology Nov, 2010 | Pubmed ID: 20683610
Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.
PloS one , 2010 | Pubmed ID: 20957198
Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort.
Age (Dordrecht, Netherlands) Feb, 2012 | Pubmed ID: 21274636
Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.
Mitochondrion Nov, 2011 | Pubmed ID: 21856449
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Journal of neurology, neurosurgery, and psychiatry Mar, 2012 | Pubmed ID: 22250184
A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.
PloS one , 2012 | Pubmed ID: 22347505
Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.
Brain : a journal of neurology Jul, 2012 | Pubmed ID: 22730558
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.
Annals of neurology Mar, 2013 | Pubmed ID: 23280477
Clinical and Molecular Characterization of Mcardle's Disease in Brazilian Patients.
Neuromolecular medicine May, 2013 | Pubmed ID: 23653251
Specific contactin N-glycans are implicated in neurofascin binding and autoimmune targeting in peripheral neuropathies.
The Journal of biological chemistry Mar, 2014 | Pubmed ID: 24497634
Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.
Neurology Mar, 2014 | Pubmed ID: 24523485
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis.
The Journal of pathology Jul, 2014 | Pubmed ID: 24604766
Analysis of serum miRNA profiles of myasthenia gravis patients.
PloS one , 2014 | Pubmed ID: 24637658
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) Aug, 2014 | Pubmed ID: 24973445
McArdle disease: a unique study model in sports medicine.
Sports medicine (Auckland, N.Z.) Nov, 2014 | Pubmed ID: 25028051
The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.
Journal of inherited metabolic disease Mar, 2015 | Pubmed ID: 25053163
Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.
Current opinion in neurology Oct, 2014 | Pubmed ID: 25105461
McArdle disease does not affect skeletal muscle fibre type profiles in humans.
Biology open , 2014 | Pubmed ID: 25432515
McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.
Human mutation Apr, 2015 | Pubmed ID: 25914343
Maastricht University
Institut d'Investigació Germans Trias i Pujol
Gisela Nogales-Gadea*,1,2,
Abhishek Saxena*,1,
Carolin Hoffmann*,1,
Judith Hounjet1,
Daniëlle Coenen1,
Peter Molenaar1,
Mario Losen1,
Pilar Martinez-Martinez1
1School for Mental Health and Neuroscience, Maastricht University,
2Department of Neurosciences, Institut d'Investigació Germans Trias i Pujol
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