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Search results (353)

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Myasthenic syndromes: mistaking genetic for acquired

Henehan L. et al, (2026), Practical Neurology, 26, 164 - 168

Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?

Ramdas S. et al, (2026), Brain

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom

Rossini E. et al, (2026), Muscle & Nerve, 73, 79 - 85

Structures of the human adult muscle-type nicotinic receptor in resting and desensitized states

Li A. et al, (2025), Cell Reports, 44, 115581 - 115581

Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.

Cossins J. et al, (2025), Brain Commun, 7

Structures of the human adult muscle-type nicotinic receptor in resting and desensitised states

Li A. et al, (2024)

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

Ryan-Phillips F. et al, (2024), Biomedicines, 12, 2549 - 2549

Congenital myasthenic syndromes: increasingly complex.

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

Congenital myasthenic syndromes

Henehan L. et al, (2024), Practical Neurology, 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

Congenital myasthenic syndromes.

Beeson D., (2024), Handb Clin Neurol, 203, 69 - 88

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

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

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

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

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