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Publications

Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.

Rodríguez Cruz PM. et al, (2020), Neuromuscul Disord

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.

Rodríguez Cruz PM. et al, (2020), Hum Mutat, 41, 619 - 631

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.

Vanhaesebrouck AE. et al, (2019), Brain

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

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.

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

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

Balaraju S. et al, (2019), Eur J Hum Genet

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J. et al, (2019), Genome Med, 11

Paediatric myasthenia gravis: any prognostic factor for disease remission?

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

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

Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients.

Takata K. et al, (2019), JCI Insight, 4

Rapsyn facilitates recovery from desensitisation in fetal and adult acetylcholine receptors expressed in a muscle cell line.

Cetin H. et al, (2019), J Physiol

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

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.

Thompson R. et al, (2018), Orphanet J Rare Dis, 13

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

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

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

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

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

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

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

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.

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

Seronegative antibody-mediated neurology after immune checkpoint inhibitors.

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

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