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Recent publications published by researchers at the MRC WIMM.

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

Journal article

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

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation.

Journal article

Cetin H. et al, (2019), Proc Natl Acad Sci U S A, 116, 21228 - 21235

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 PM. et al, (2018), Int J Mol Sci, 19

Molecular characterization of congenital myasthenic syndromes in Spain.

Journal article

Natera-de Benito D. et al, (2017), Neuromuscul Disord, 27, 1087 - 1098

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Journal article

Rodríguez Cruz PM. et al, (2016), J Neurol Neurosurg 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

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), Exp Neurol, 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), Neuromuscul Disord, 24, 1103 - 1110

Congenital myasthenic syndromes and the neuromuscular junction.

Journal article

Rodríguez Cruz PM. et al, (2014), Curr Opin Neurol, 27, 566 - 575