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The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.

Journal article

Vanhaesebrouck AE. and Beeson D., (2019), Curr Opin Neurol, 32, 696 - 703

Paediatric myasthenia gravis: any prognostic factor for disease remission?

Conference paper

Vecchio D. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 94 - 94

Testing the effects of SHP2 inhibition on in vitro and in vivo models of neuromuscular junction disorders

Conference paper

Cao M. et al, (2019), EUROPEAN JOURNAL OF NEUROLOGY, 26, 71 - 72

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

Journal article

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

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Journal article

Dong YY. et al, (2018), Cell, 175, 1045 - 1058.e16

Clinical features of congenital myasthenic syndrome due to mutations in COL13A1

Conference paper

Cruz PR. et al, (2018), NEUROMUSCULAR DISORDERS, 28, S51 - S52

New genes and better treatment for congenital myasthenic syndromes

Conference paper

Beeson D., (2018), NEUROMUSCULAR DISORDERS, 28, S29 - S29

SHP2 INHIBITION BY NSC-87877 RECOVERS THE PATHOGENIC IN VITRO EFFECTS OF MUSK-MG ANTIBODY SUBCLASSES

Conference paper

Cao M. et al, (2018), MUSCLE & NERVE, 58, S15 - S16

Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy.

Journal article

Sarkozy A. et al, (2018), J Neurol Neurosurg Psychiatry, 89, 762 - 768

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

Journal article

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

Seronegative antibody-mediated neurology after immune checkpoint inhibitors.

Journal article

Wilson R. et al, (2018), Ann Clin Transl Neurol, 5, 640 - 645

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