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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

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 Medicine, 11

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

Vanhaesebrouck AE. et al, (2019), Brain

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

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

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

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

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

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

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

Takata K. et al, (2019), JCI insight

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

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

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

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

CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

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

I.2New 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 ofGMPPBgene-related muscular dystrophy

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

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

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

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

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