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Publications

Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.

Dong YY. et al, (2018), Cell, 175, 1045 - 1058.e16

Structures of DPAGT1 explain glycosylation disease mechanisms and advance TB antibiotic design

Dong YY. et al, (2018)

LIMB GIRDLE SYNDROMES: MYASTHENIA OR MYOPATHY

Cruz PR. et al, (2016), Journal of neurology, neurosurgery & psychiatry, 87, e1.84 - e1

bicoid mRNA localises to the Drosophila oocyte anterior by random Dynein-mediated transport and anchoring.

Trovisco V. et al, (2016), Elife, 5

Late presentations of congenital myasthenic syndromes: How many do we miss?

Garg N. et al, (2016), Muscle nerve, 54, 721 - 727

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

Rodríguez Cruz PM. et al, (2016), J neurol neurosurg psychiatry, 87, 802 - 809

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

Belaya K. et al, (2015), Brain, 138, 2493 - 2504

Congenital myasthenic syndrome caused by mutations in DPAGT.

Klein A. et al, (2015), Neuromuscul disord, 25, 253 - 256

Collagen Q--a potential target for autoantibodies in myasthenia gravis.

Zoltowska Katarzyna M. et al, (2015), J neurol sci, 348, 241 - 244

Collagen Q - A potential target for autoantibodies in myasthenia gravis

Zoltowska Katarzyna M. et al, (2015), Journal of the neurological sciences, 348, 241 - 244

Analysis of the expression patterns, subcellular localisations and interaction partners of Drosophila proteins using a pigP protein trap library.

Lowe N. et al, (2014), Development, 141, 3994 - 4005

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

Finlayson S. et al, (2013), J neurol neurosurg psychiatry, 84, 1119 - 1125

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

Basiri K. et al, (2013), Neuromuscular disorders, 23, 469 - 472

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Basiri K. et al, (2013), Neuromuscul disord, 23, 469 - 472

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

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

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Finlayson S. et al, (2013), Journal of neurology, neurosurgery and psychiatry, 84, 1119 - 1125

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

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

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.

Belaya K. et al, (2012), Ann n y acad sci, 1275, 29 - 35

The search for new antigenic targets in myasthenia gravis.

Cossins J. et al, (2012), Ann n y acad sci, 1275, 123 - 128

The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.

Cossins J. et al, (2012), Hum mol genet, 21, 3765 - 3775

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