Contact information
Research groups
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
-
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
-
Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway
Journal article
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
Journal article
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
Journal article
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
Journal article
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
Journal article
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
Journal article
Webster RG. et al, (2013), Experimental Neurology, 248, 286 - 298
-
Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1
Journal article
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
Journal article
Zoltowska K. et al, (2013), Human Molecular Genetics, 22, 2905 - 2913
-
Congenital myasthenic syndromes due to mutations inALG2andALG14
Journal article
Cossins J. et al, (2013), Brain, 136, 944 - 956