S
Susan Maxwell
Researcher at University of Oxford
Publications - 46
Citations - 3280
Susan Maxwell is an academic researcher from University of Oxford. The author has contributed to research in topics: Congenital myasthenic syndrome & Neuromuscular transmission. The author has an hindex of 25, co-authored 45 publications receiving 2948 citations. Previous affiliations of Susan Maxwell include Queen Mary University of London & Churchill Hospital.
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Journal ArticleDOI
N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes
Sarosh R. Irani,Katarzyna Bera,Patrick Waters,Luigi Zuliani,Susan Maxwell,Michael S. Zandi,Manuel A. Friese,Manuel A. Friese,Ian Galea,Dimitri M. Kullmann,David Beeson,Bethan Lang,Christian G. Bien,Angela Vincent +13 more
TL;DR: Overall, the data support a model in which the early features of N-methyl-d-aspartate receptor encephalopathy are associated with cerebrospinal fluid lymphocytosis, and the later features with appearance of oligoclonal bands, which is associated with restriction to the first stage.
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Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis.
Patrick Waters,Sven Jarius,E Littleton,Maria Isabel Leite,Saiju Jacob,Bryony Gray,Ruth Geraldes,Thomas Vale,Anu Jacob,Jacqueline Palace,Susan Maxwell,David Beeson,Angela Vincent +12 more
TL;DR: A simple new quantitative fluorescence immunoprecipitation assay (FIPA) is compared with both indirect immunofluorescence and an AQP4-transfected cell-based assay to detect the presence of aquaporin-4 antibodies in patients with neuromyelitis optica and to characterize the anti-AQP4 antibodies.
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Dok-7 Mutations Underlie a Neuromuscular Junction Synaptopathy
David Beeson,Osamu Higuchi,Jackie Palace,Judy Cossins,Hayley Spearman,Susan Maxwell,John Newsom-Davis,G Burke,Peter R.W. Fawcett,Masakatsu Motomura,Juliane S. Müller,Hanns Lochmüller,Clarke R. Slater,Angela Vincent,Yuji Yamanashi +14 more
TL;DR: It is shown that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of CMS with proximal muscle weakness.
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Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Jan Senderek,Jan Senderek,Juliane S. Müller,Marina Dusl,Tim M. Strom,Velina Guergueltcheva,Irmgard Diepolder,Steven H. Laval,Susan Maxwell,Judy Cossins,Sabine Krause,Nuria Muelas,Juan J. Vílchez,Jaume Colomer,Cecilia Jimenez Mallebrera,Andrés Nascimento,Shahriar Nafissi,Ariana Kariminejad,Yalda Nilipour,Bita Bozorgmehr,Hossein Najmabadi,Carmelo Rodolico,J. P. Sieb,Ortrud K. Steinlein,Beate Schlotter,Benedikt Schoser,Janbernd Kirschner,Ralf Herrmann,Thomas Voit,Anders Oldfors,Christopher Lindbergh,Andoni Urtizberea,Maja von der Hagen,Angela Hübner,Jacqueline Palace,Kate Bushby,Volker Straub,David Beeson,Angela Abicht,Hanns Lochmüller +39 more
TL;DR: Downregulation of the GFPT1 ortholog gfpt1 in zebrafish embryos altered muscle fiber morphology and impaired neuromuscular junction development, providing further impetus to study the glycobiology of NMJ and synapses in general.
Journal ArticleDOI
Antibodies to GABAA receptor α1 and γ2 subunits Clinical and serologic characterization
Philippa Pettingill,Holger B. Kramer,Jan Adriaan Coebergh,Rosie Pettingill,Susan Maxwell,Anjan Nibber,Andrea Malaspina,Anu Jacob,Sarosh R. Irani,Camilla Buckley,David Beeson,Bethan Lang,Patrick Waters,Angela Vincent +13 more
TL;DR: The GABAAR α1 and γ2 are new targets for antibodies in autoimmune neurologic disease and in particular the role of the IgM antibodies will need to be assessed in future studies.