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Recent publications published by researchers at the MRC WIMM.

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

Journal article

Balaraju S. et al, (2020), Eur J Hum Genet, 28, 373 - 377

Paediatric myasthenia gravis: Prognostic factors for drug free remission.

Conference paper

Vecchio D. et al, (2020), Neuromuscul Disord, 30, 120 - 127

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 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

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


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


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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