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

Journal article

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

LIMB GIRDLE SYNDROMES: MYASTHENIA OR MYOPATHY

Conference paper

Cruz PR. et al, (2016), JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 87

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

Journal article

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

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

Journal article

Rodríguez Cruz PM. et al, (2016), J Neurol Neurosurg Psychiatry, 87, 802 - 809

Congenital myasthenic syndrome caused by mutations in DPAGT.

Journal article

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

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

Journal article

Zoltowska Katarzyna M. et al, (2015), J Neurol Sci, 348, 241 - 244

Collagen Q - A potential target for autoantibodies in myasthenia gravis

Journal article

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

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

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

Journal article

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

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.

Journal article

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

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Journal article

Finlayson S. et al, (2013), Journal of Neurology, Neurosurgery and 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

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

Journal article

Belaya K. et al, (2012), Ann N Y Acad Sci, 1275, 29 - 35

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.

Journal article

Belaya K. et al, (2012), Am J Hum Genet, 91, 193 - 201

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