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SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody.

Journal article

Huda S. et al, (2020), Neurol Neuroimmunol Neuroinflamm, 7

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Journal article

Rodríguez Cruz PM. et al, (2019), Brain, 142, 1547 - 1560

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

Journal article

Rodríguez Cruz P. et al, (2018), International Journal of Molecular Sciences, 19, 1677 - 1677

Molecular characterization of congenital myasthenic syndromes in Spain

Journal article

Natera-de Benito D. et al, (2017), Neuromuscular Disorders, 27, 1087 - 1098

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

Journal article

Rodríguez Cruz PM. et al, (2016), Journal of Neurology, Neurosurgery & Psychiatry, 87, 802 - 809

Muscle magnetic resonance imaging in congenital myasthenic syndromes

Journal article

Finlayson S. et al, (2016), Muscle & Nerve, 54, 211 - 219

Use of cell-based assays in myasthenia gravis and other antibody-mediated diseases

Journal article

Rodriguez Cruz PM. et al, (2015), Experimental Neurology, 270, 66 - 71

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

Journal article

Logan CV. et al, (2015), The American Journal of Human Genetics, 97, 878 - 885

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

Journal article

Rodríguez Cruz PM. et al, (2015), Neurology, 85, 1043 - 1047

Use of cell-based assays in myasthenia gravis and other antibody-mediated diseases

Journal article

Rodriguez Cruz PM. et al, (2015), Experimental Neurology, 270, 66 - 71

Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature

Journal article

Rodríguez Cruz PM. et al, (2014), Neuromuscular Disorders, 24, 1103 - 1110

Congenital myasthenic syndromes and the neuromuscular junction

Journal article

Cruz PMR. et al, (2014), Current Opinion in Neurology, 27, 566 - 575