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Publications

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

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

Beeson D. et al, (2018), Annals of the New York Academy of Sciences, 1413, 163 - 169

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

Huda S. et al, (2017), Neurology - Neuroimmunology Neuroinflammation, 4, e357 - e357

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

Gomez AM. et al, (2016), The American Journal of Pathology, 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), The American Journal of Human Genetics, 97, 878 - 885

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, e80695 - e80695

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

Webster RG. et al, (2013), Experimental Neurology, 248, 286 - 298

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1

Finlayson S. et al, (2013), Journal of Neurology, Neurosurgery & 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), Human Molecular Genetics, 22, 2905 - 2913

Congenital myasthenic syndromes due to mutations inALG2andALG14

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

The search for new antigenic targets in myasthenia gravis

Cossins J. et al, (2012), Annals of the New York Academy of Sciences, 1275, 123 - 128

M.P.1.04 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

Muller JS., (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

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

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

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

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

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

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

Include forthcoming?