Search results (21)
« Back to PublicationsProtocol for stable cell line production to express muscle-type nicotinic receptor.
Journal article
Li A. et al, (2026), STAR Protoc, 7
Congenital myasthenic syndrome: is it time for a name change to genetic myasthenic syndrome?
Journal article
Ramdas S. et al, (2026), Brain
Structures of the human adult muscle-type nicotinic receptor in resting and desensitized states.
Journal article
Li A. et al, (2025), Cell Rep, 44
Dose escalation pre-clinical trial of novel DOK7-AAV in mouse model of DOK7 congenital myasthenia.
Journal article
Cossins J. et al, (2025), Brain Commun, 7
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes.
Journal article
Ryan-Phillips F. et al, (2024), Biomedicines, 12
Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech.
Journal article
Pradhan A. et al, (2024), Cell Mol Life Sci, 81
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes
Preprint
Ryan-Phillips F. and Dong YY., (2024)
Structures of the human adult muscle-type nicotinic receptor in resting and desensitised states
Preprint
Li A. et al, (2024)
DOK7-AAV IMPROVED ACETYLCHOLINE DEFICIENCY CMS IN A MOUSE MODEL AND ENHANCED THE EFFECTIVENESS OF PYRIDOSTIGMINE TREATMENT
Conference paper
Panea M. et al, (2022), MUSCLE & NERVE, 65, S30 - S30
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Journal article
Ng BG. et al, (2020), J Inherit Metab Dis, 43, 1333 - 1348
Cryo-EM structures of the human glutamine transporter SLC1A5 (ASCT2) in the outward-facing conformation.
Journal article
Yu X. et al, (2019), Elife, 8
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Journal article
Dong YY. et al, (2018), Cell, 175, 1045 - 1058.e16
Structures of DPAGT1 explain glycosylation disease mechanisms and advance TB antibiotic design
Journal article
Dong YY. et al, (2018)
Bilayer-Mediated Structural Transitions Control Mechanosensitivity of the TREK-2 K2P Channel.
Journal article
Aryal P. et al, (2017), Structure, 25, 708 - 718.e2