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Recent publications published by researchers at the MRC WIMM.

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

Journal article

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.

Journal article

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

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

Journal article

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

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

Journal article

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

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Journal article

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

The search for new antigenic targets in myasthenia gravis.

Journal article

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

Conference paper

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

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations

Journal article

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

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

Journal article

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

Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Journal article

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

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

Journal article

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