Gisela Nogales-Gadea

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

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

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

Favorable responses to acute and chronic exercise in McArdle patients.

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

McArdle disease: what do neurologists need to know?

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

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

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

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

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

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

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

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

Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy.

Clinical and Molecular Characterization of Mcardle's Disease in Brazilian Patients.

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

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

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

Analysis of serum miRNA profiles of myasthenia gravis patients.

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

McArdle disease: a unique study model in sports medicine.

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

Clinical and scientific aspects of acetylcholine receptor myasthenia gravis.

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

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