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Publications

Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.

Ryan-Phillips F. et al, (2024), Biomedicines, 12

Congenital myasthenic syndromes: increasingly complex.

Ramdas S. et al, (2024), Curr Opin Neurol, 37, 493 - 501

Congenital myasthenic syndromes.

Henehan L. et al, (2024), Pract Neurol, 24, 185 - 187

Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.

Pradhan A. et al, (2024), Cell Mol Life Sci, 81

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Pagnamenta AT. et al, (2023), Genome Medicine, 15

IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation.

Cao M. et al, (2023), Neurol Neuroimmunol Neuroinflamm, 10

260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands.

Spendiff S. et al, (2023), Neuromuscul Disord, 33, 111 - 118

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.

Rodríguez Cruz PM. et al, (2023), Neuromuscul Disord, 33, 161 - 168

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre.

Poulos J. et al, (2023), Brain Commun, 5

Motor end-plate analysis to diagnose immune-mediated myasthenia gravis in seronegative patients.

Nagaoka A. et al, (2022), J Neurol Sci, 443

Pregnancy outcomes in patients with congenital myasthenic syndromes.

O'Connell K. et al, (2022), Muscle Nerve, 66, 345 - 348

Rituximab in juvenile myasthenia gravis-an international cohort study and literature review.

Ramdas S. et al, (2022), Eur J Paediatr Neurol, 40, 5 - 10

Genetic defects are common in myopathies with tubular aggregates.

Gang Q. et al, (2022), Ann Clin Transl Neurol, 9, 4 - 15

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report.

Ehrstedt C. et al, (2022), Neuromuscul Disord, 32, 80 - 83

Antagonistic postsynaptic and presynaptic actions of cyclohexanol on neuromuscular synaptic transmission and function.

Dissanayake KN. et al, (2021), J Physiol, 599, 5417 - 5449

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

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