María Carmen
Navarro Navarro
Publicacións nas que colabora con María Carmen Navarro Navarro (11)
2023
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Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family
Journal of Clinical Medicine, Vol. 12, Núm. 17
2020
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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1
2017
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Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
Neurologia, Vol. 32, Núm. 6, pp. 377-385
2012
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Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry
Journal of Neurology, Neurosurgery and Psychiatry, Vol. 83, Núm. 3, pp. 322-328
2011
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Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations
Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823
2010
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Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II
Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease
Human Genetics
2009
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 339
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 335
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Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.
Human genetics, Vol. 125, Núm. 3, pp. 349