S. Maxwell

发表

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

J. Palace, A. Vincent, J. Cossins, 2006, Brain : a journal of neurology.

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

Jacqueline A Palace, J. Cossins, D. Beeson, 2019, Brain : a journal of neurology.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

G. Ravenscroft, E. Todd, N. Romero, 2015, Orphanet Journal of Rare Diseases.

Antibodies to GABAA receptor &agr;1 and &ggr;2 subunits: Clinical and serologic characterization

A. Vincent, J. Coebergh, S. Irani, 2015 .

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Zhen-an Zhu, D. Beeson, S. Maxwell, 2017, Neuromuscular Disorders.

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

Jacqueline Palace, J. Cossins, D. Beeson, 2018, Annals of the New York Academy of Sciences.

Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line

A. Vincent, J. Cossins, D. Beeson, 2019, The Journal of physiology.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Clinical features of the DOK7 neuromuscular junction synaptopathy.

Jacqueline A Palace, J. Cossins, D. Beeson, 2007, Brain : a journal of neurology.

Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy

J. Palace, Hanns Lochmüller, A. Vincent, 2006, Science.

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

A. Vincent, J. Cossins, D. Beeson, 2004, Human molecular genetics.

DDH320 2947..2957

J. Cossins, D. Beeson, G. Burke, 2004 .

Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China

A. Vincent, D. Beeson, L. Clover, 2011, Journal of the Neurological Sciences.

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

Jacqueline Palace, J. Cossins, D. Beeson, 2020, Brain communications.

This Work Is Licensed under a Creative Commons Attribution 4.0 International License Mutations in Gmppb Cause Congenital Myasthenic Syndrome and Bridge Myasthenic Disorders with Dystroglycanopathies

K. Bushby, F. Muntoni, W. Yue, 2022 .

Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis.

Jacqueline A Palace, A. Vincent, D. Beeson, 2008, Archives of neurology.

N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes

D. Kullmann, C. Bien, A. Vincent, 2010, Brain : a journal of neurology.

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

Jacqueline A Palace, S. Twigg, S. McGowan, 2012, American journal of human genetics.

Germline mutation in DOK7 associated with fetal akinesia deformation sequence

D. Beeson, E. Maher, J. Vogt, 2009, Journal of Medical Genetics.

Distinct phenotypes of congenital acetylcholine receptor deficiency

Jacqueline Palace, J. Palace, J. Cossins, 2004, Neuromuscular Disorders.

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

D. Beeson, S. Maxwell, W. Liu, 2013, Neuromuscular Disorders.

A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment

J. Cossins, P. Martinez-Martinez, S. Maxwell, 2013, Experimental Neurology.

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

J. Cossins, D. Beeson, T. Lester, 2012, Human molecular genetics.

Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.

Hanns Lochmüller, J. Cossins, D. Beeson, 2013, Human molecular genetics.

Congenital myasthenic syndromes due to mutations in ALG2 and ALG14

Peter Donnelly, Nicola Carboni, Hanns Lochmüller, 2013, Brain : a journal of neurology.

Congenital myasthenic syndromes due to mutations in ALG 2 and ALG 14

P. Donnelly, D. Bentley, Jacqueline A Palace, 2013 .

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.

T. Strom, K. Bushby, Jacqueline A Palace, 2011, American journal of human genetics.

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs

F. Zimprich, A. Vincent, J. Cossins, 2020, Journal of Neurology, Neurosurgery, and Psychiatry.

The search for new antigenic targets in myasthenia gravis

A. Vincent, J. Cossins, D. Beeson, 2012, Annals of the New York Academy of Sciences.

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

Ryo Ueta, J. Cossins, D. Beeson, 2020, Human molecular genetics.

Structural correlates of human muscle nicotinic acetylcholine receptor subunit assembly mediated by δ(+) interface residues

P. Biggin, T. Piggot, S. Maxwell, 2020, bioRxiv.

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

Jacqueline Palace, David Beeson, Jacqueline Palace, 2012, Annals of the New York Academy of Sciences.

Myasthenic Syndrome with Tubular Aggregates

Jacqueline A Palace, S. McGowan, J. Cossins, 2012 .

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

K. Tai, M. Sansom, D. Beeson, 2012, Brain : a journal of neurology.

Antibodies to GABAA receptor α1 and γ2 subunits

A. Vincent, J. Coebergh, S. Irani, 2015, Neurology.

Voice in myasthenia gravis

S. Maxwell, J. Locke, 1969, The Laryngoscope.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction

Jacqueline Palace, A. Vincent, J. Cossins, 2008, Annals of the New York Academy of Sciences.

Rapsyn mutations in hereditary myasthenia

J. Palace, A. Vincent, J. Cossins, 2003, Neurology.

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

F. Muntoni, Jacqueline A Palace, J. Holton, 2016, Journal of Neurology, Neurosurgery & Psychiatry.

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Jacqueline Palace, A. Kornev, R. Herbst, 2019, Human mutation.

Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China

D. Beeson, L. Clover, Li Yang, 2011, Journal of the Neurological Sciences.

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

P. Biggin, J. Cossins, D. Beeson, 2019, Proceedings of the National Academy of Sciences.

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

C. Logan, J. Cossins, S. Jayawant, 2015, American journal of human genetics.

IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation

J. Cossins, D. Beeson, Wei-wei Liu, 2023, Neurology: Neuroimmunology & Neuroinflammation.

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

Jacqueline Palace, A. Kornev, R. Herbst, 2019, Human Mutation.

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Jacqueline Palace, K. Bushby, F. Muntoni, 2012, Journal of Neurology.

Human Mutation

Jacqueline A Palace, A. Kornev, R. Herbst, 2019 .