Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Search results (22)

« Back to Publications

Positive allosteric modulator selective for adult muscle nicotinic acetylcholine receptor.

Webster RG. et al, (2026), Proc Natl Acad Sci U S A, 123

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

Ramdas S. et al, (2026), Brain, 149, 1816 - 1818

Protocol for stable cell line production to express muscle-type nicotinic receptor

Li A. et al, (2026), STAR Protocols, 7, 104427 - 104427

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

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

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

Ryan-Phillips F. and Dong YY., (2024)

DOK7-AAV IMPROVED ACETYLCHOLINE DEFICIENCY CMS IN A MOUSE MODEL AND ENHANCED THE EFFECTIVENESS OF PYRIDOSTIGMINE TREATMENT

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.

Ng BG. et al, (2020), J Inherit Metab Dis, 43, 1333 - 1348

A new paradigm for Prelamin A proteolytic processing by ZMPSTE24: the upstream SY^LL cleavage occurs first and there is no CaaX processing by ZMPSTE24

Nie L. et al, (2020)

Cryo-EM structures of the human glutamine transporter SLC1A5 (ASCT2) in the outward-facing conformation.

Yu X. et al, (2019), Elife, 8

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

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

Structures of DPAGT1 explain glycosylation disease mechanisms and advance TB antibiotic design

Dong YY. et al, (2018)

Load More