Contact information
Judith Cossins
DPhil
Senior post-doctoral research scientist
After gaining my degree and DPhil from Oxford University I spent seven years in industry before returning to academia. I've been part of David Beeson's group since 2001. My research focuses on congenital myasthenic syndromes, a rare group of inherited disorders which cause muscle fatigue. I have recently been using next generation sequencing to identify mutations in patients, and this has led to the identification of novel genes which cause the disease. I use various cell-based assays to verify the pathogenicity of novel mutations.
Recent publications
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IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation.
Journal article
Cao M. et al, (2023), Neurol Neuroimmunol Neuroinflamm, 10
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Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Journal article
Rodríguez Cruz PM. et al, (2020), Hum Mutat, 41, 619 - 631
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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission.
Journal article
Cossins J. et al, (2020), Brain Commun, 2
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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
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IgG-specific cell-based assay detects potentially pathogenic MuSK-Abs in seronegative MG.
Journal article
Huda S. et al, (2017), Neurol Neuroimmunol Neuroinflamm, 4
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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
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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Journal article
Logan CV. et al, (2015), Am J Hum Genet, 97, 878 - 885
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A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
Journal article
Webster RG. et al, (2013), Exp Neurol, 248, 286 - 298
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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
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Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
Journal article
Zoltowska K. et al, (2013), Hum Mol Genet, 22, 2905 - 2913