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S. Maxwell · SciRah

Researcher profile · Semantic Scholar

S. Maxwell

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S. Maxwell — researcher profile on SciRah

h-index: 29
Works: 67
Citations: 2,987

Most-cited papers

Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis.
P. Waters, S. Jarius, E. Littleton, M. Leite +9 more
2008Archives of Neurology317 citations Open access
Semantic Scholar
Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy
D. Beeson, O. Higuchi, J. Palace, J. Cossins +11 more
2006Science268 citations Open access
Semantic Scholar
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
J. Senderek, J. Müller, M. Dusl, T. Strom +35 more
2011American Journal of Human Genetics181 citations Open access
Semantic Scholar
N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes
S. Irani, Katarzyna Bera, P. Waters, Luigi Zuliani +9 more
2010Brain : a journal of neurology173 citations Open access
Semantic Scholar
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
K. Belaya, S. Finlayson, C. Slater, J. Cossins +9 more
2012American Journal of Human Genetics154 citations Open access
Semantic Scholar
Antibodies to GABAA receptor α1 and γ2 subunits
Philippa Pettingill, H. Kramer, J. Coebergh, Rosemary Pettingill +10 more
2015Neurology134 citations Open access
Semantic Scholar
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14
J. Cossins, K. Belaya, D. Hicks, M. Salih +15 more
2013Brain : a journal of neurology132 citations Open access
Semantic Scholar
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
K. Belaya, P. Rodríguez-Cruz, Wei-Wei Liu, S. Maxwell +18 more
2015Brain : a journal of neurology129 citations Open access
Semantic Scholar
Clinical features of the DOK7 neuromuscular junction synaptopathy.
Jacqueline A Palace, D. Lashley, J. Newsomdavis, J. Cossins +5 more
2007Brain : a journal of neurology124 citations
Semantic Scholar
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
E. Todd, K. Yau, Royston Ong, J. Slee +22 more
2015Orphanet Journal of Rare Diseases115 citations Open access
Semantic Scholar
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
V. Guergueltcheva, J. Müller, M. Dusl, J. Senderek +33 more
2012Journal of Neurology98 citations Open access
Semantic Scholar
The search for new antigenic targets in myasthenia gravis
J. Cossins, K. Belaya, K. Zoltowska, I. Koneczny +6 more
2012Annals of the New York Academy of Sciences91 citations
Semantic Scholar
Rapsyn mutations in hereditary myasthenia
G. Burke, J. Cossins, S. Maxwell, G. Owens +7 more
2003Neurology85 citations
Semantic Scholar
Germline mutation in DOK7 associated with fetal akinesia deformation sequence
J. Vogt, Neil V. Morgan, T. Marton, S. Maxwell +3 more
2009Journal of Medical Genetics71 citations Open access
Semantic Scholar
Distinct phenotypes of congenital acetylcholine receptor deficiency.
G. Burke, J. Cossins, S. Maxwell, S. Robb +5 more
2004Neuromuscular Disorders71 citations
Semantic Scholar
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Clare V. Logan, J. Cossins, P. Rodríguez-Cruz, David A. Parry +15 more
2015American Journal of Human Genetics70 citations Open access
Semantic Scholar
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR.
K. Zoltowska, R. Webster, S. Finlayson, S. Maxwell +4 more
2013Human Molecular Genetics66 citations
Semantic Scholar
Clinical features of the myasthenic syndrome arising from mutations in GMPPB
P. Rodríguez-Cruz, K. Belaya, Keivan Basiri, M. Sedghi +14 more
2016Journal of Neurology Neurosurgery & Psychiatry63 citations Open access
Semantic Scholar
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
J. Cossins, G. Burke, S. Maxwell, H. Spearman +6 more
2006Brain : a journal of neurology58 citations Open access
Semantic Scholar
The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome.
J. Cossins, Wei-Wei Liu, K. Belaya, S. Maxwell +4 more
2012Human Molecular Genetics54 citations Open access
Semantic Scholar
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure
A. Vanhaesebrouck, R. Webster, S. Maxwell, P. Rodríguez-Cruz +8 more
2019Brain : a journal of neurology42 citations Open access
Semantic Scholar
Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, China.
Li Yang, S. Maxwell, M. Leite, P. Waters +6 more
2011Journal of Neurological Sciences40 citations
Semantic Scholar
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia
R. Webster, A. Vanhaesebrouck, S. Maxwell, J. Cossins +4 more
2020Human Molecular Genetics37 citations Open access
Semantic Scholar
A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.
J. Cossins, R. Webster, S. Maxwell, G. Burke +2 more
2004Human Molecular Genetics37 citations
Semantic Scholar
Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction
D. Beeson, R. Webster, J. Cossins, D. Lashley +6 more
2008Annals of the New York Academy of Sciences35 citations Open access
Semantic Scholar
Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1
Keivan Basiri, K. Belaya, Wei-Wei Liu, S. Maxwell +2 more
2013Neuromuscular Disorders34 citations Open access
Semantic Scholar
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome
K. Belaya, S. Finlayson, J. Cossins, Wei-Wei Liu +3 more
2012Annals of the New York Academy of Sciences34 citations Open access
Semantic Scholar
Congenital myasthenic syndromes due to mutations in ALG 2 and ALG 14
J. Cossins, K. Belaya, D. Hicks, M. Salih +15 more
201332 citations
Semantic Scholar
A mouse model of the slow channel myasthenic syndrome: Neuromuscular physiology and effects of ephedrine treatment.
Richard G Webster, J. Cossins, D. Lashley, S. Maxwell +5 more
2013Experimental Neurology32 citations
Semantic Scholar
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
Su-Shan Luo, S. Cai, S. Maxwell, D. Yue +8 more
2017Neuromuscular Disorders29 citations
Semantic Scholar
Antibodies to GABAA receptor &agr;1 and &ggr;2 subunits: Clinical and serologic characterization
Philippa Pettingill, H. Kramer, J. Coebergh, Rosemary Pettingill +10 more
201525 citations Open access
Semantic Scholar
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs
H. Cetin, R. Webster, Wei-Wei Liu, A. Nagaishi +6 more
2020Journal of Neurology Neurosurgery & Psychiatry22 citations Open access
Semantic Scholar
Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission
J. Cossins, R. Webster, S. Maxwell, P. Rodríguez-Cruz +5 more
2020Brain Communications20 citations Open access
Semantic Scholar
A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
R. Webster, S. Maxwell, H. Spearman, Kai-Hsu Tai +3 more
2012Brain : a journal of neurology20 citations Open access
Semantic Scholar
Human Mutation
P. Rodríguez-Cruz, J. Cossins, J. Cheung, S. Maxwell +6 more
202019 citations
Semantic Scholar
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line
H. Cetin, W. Liu, J. Cheung, J. Cossins +5 more
2019Journal of Physiology16 citations Open access
Semantic Scholar
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation
M. Cao, Wei-Wei Liu, S. Maxwell, S. Huda +5 more
2023Neurology: Neuroimmunology & Neuroinflammation12 citations Open access
Semantic Scholar
Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway
D. Beeson, J. Cossins, P. Rodríguez-Cruz, S. Maxwell +2 more
2018Annals of the New York Academy of Sciences8 citations
Semantic Scholar
Motor end-plate analysis to diagnose immune-mediated myasthenia gravis in seronegative patients.
A. Nagaoka, Akira Tsujino, H. Shiraishi, Tadashi Kanamoto +10 more
2022Journal of Neurological Sciences6 citations Open access
Semantic Scholar
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.
Anomali S. Vidanagamage, I. Gooneratne, S. Nandasiri, K. Gunaratne +5 more
2020Neuromuscular Disorders6 citations
Semantic Scholar
Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation
H. Cetin, Max Epstein, W. Liu, S. Maxwell +6 more
2019Proceedings of the National Academy of Sciences of the United States of America6 citations Open access
Semantic Scholar
Voice in myasthenia gravis
S. Maxwell, John L. Locke
1969The Laryngoscope6 citations
Semantic Scholar
Unraveling the molecular interactions between α7 nicotinic receptor and a RIC3 variant associated with backward speech
Aditi Pradhan, Hayley Mounford, Jessica Peixinho, Edward Rea +10 more
2024Cellular and Molecular Life Sciences4 citations Open access
Semantic Scholar
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report
I. Gooneratne, S. Nandasiri, S. Maxwell, R. Webster +6 more
2020Journal of Neuromuscular Diseases3 citations
Semantic Scholar
Myasthenic Syndrome with Tubular Aggregates
K. Belaya, S. Finlayson, C. Slater, J. Cossins +8 more
20121 citations
Semantic Scholar
P23 Fluorescent receptors to light up the neuromuscular junction
Judy Cossins, R. Webster, S. Maxwell, A. Vincent +1 more
20111 citations
Semantic Scholar
P51 Ephedrine treatment in DOK7 CMS and investigation of potential mechanisms
Judy Cossins, D. Lashley, Hayley Spearman, S. Maxwell +3 more
20101 citations
Semantic Scholar
CLINICAL FEATURES AND FOLLOW-UP OF 13 PATIENTS WITH ANTIBODIES AGAINST NMDA RECEPTORS
S. Irani, S. Maxwell, M. Zandi, J. Cossins +2 more
20091 citations
Semantic Scholar
A novel sensitive assay for aqueporin-4 antibodies (NMO-IgG)
P. Waters, S. Jarius, E. Littleton, Jacqueline Palace +3 more
20071 citations
Semantic Scholar
Characterisation of a novel mouse model for congenital myasthenic syndrome due to a mutation in CHRND
S. Alabaf, R. Webster, J. Cossins, Wei-Wei Liu +3 more
2023Journal of Neurological Sciences0 citations
Semantic Scholar

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Jacqueline A Palace

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