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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

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Journal article

Thompson R. et al, (2018), Orphanet Journal of Rare Diseases, 13

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

Journal article

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

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Conference paper

Rodriguez Cruz P. et al, (2018), Neuromuscular Disorders, 28, S51 - S52

I.2New 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 ofGMPPBgene-related muscular dystrophy

Journal article

Sarkozy A. et al, (2018), Journal of Neurology, Neurosurgery & Psychiatry, 89, 762 - 768

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

Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders

Journal article

Clausen L. et al, (2018), Journal of Neuromuscular Diseases, 5, 231 - 240

Seronegative antibody-mediated neurology after immune checkpoint inhibitors

Journal article

Wilson R. et al, (2018), Annals of Clinical and Translational Neurology, 5, 640 - 645

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