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Publications

Recent publications published by researchers at the MRC WIMM.

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

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

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.

Cossins J. et al, (2020), Brain Commun, 2

Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway.

Beeson D. et al, (2018), Ann N Y Acad Sci, 1413, 163 - 169

IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG.

Huda S. et al, (2017), Neurol Neuroimmunol Neuroinflamm, 4

Silencing of Dok-7 in Adult Rat Muscle Increases Susceptibility to Passive Transfer Myasthenia Gravis.

Gomez AM. et al, (2016), Am J Pathol, 186, 2559 - 2568

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.

Logan CV. et al, (2015), Am J Hum Genet, 97, 878 - 885

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.

Webster RG. et al, (2013), Exp Neurol, 248, 286 - 298

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.

Finlayson S. et al, (2013), J Neurol Neurosurg Psychiatry, 84, 1119 - 1125

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Zoltowska K. et al, (2013), Hum Mol Genet, 22, 2905 - 2913

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Cossins J. et al, (2013), Brain, 136, 944 - 956

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.

Koneczny I. et al, (2013), PLoS One, 8

The search for new antigenic targets in myasthenia gravis.

Cossins J. et al, (2012), Ann N Y Acad Sci, 1275, 123 - 128

The effect of dok-7 on acetylcholine receptor clustering in C2C12 cells

Spearman H. et al, (2008), NEUROMUSCULAR DISORDERS, 18, 748 - 748

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Müller JS. et al, (2006), Brain, 129, 2784 - 2793

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Cossins J. et al, (2006), Brain, 129, 2773 - 2783

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Cossins J. et al, (2006), Brain, 129, 2773 - 2783

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Beeson D. et al, (2006), Science, 313, 1975 - 1978

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

Burke G. et al, (2003), Neurology, 61, 826 - 828

Include forthcoming?