Publications by the researcher in collaboration with María Carmen Navarro Navarro (9)

2023

  1. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

    Journal of Clinical Medicine, Vol. 12, Núm. 17

2020

  1. 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

  2. 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

  1. SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement

    Neurogenetics, Vol. 18, Núm. 1, pp. 63-67

2011

  1. 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

  1. Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2009

  1. Myoadenylate deaminase deficiency: Clinico-pathological and molecular study of a series of 27 Spanish cases

    Clinical Neuropathology, Vol. 28, Núm. 2, pp. 136-142

  2. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 339

  3. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

    Human genetics, Vol. 125, Núm. 3, pp. 349