检索结果 - Judith Cossins

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  1. 1
    The role of muscle‐specific tyrosine kinase (<scp>MuSK</scp>) and mystery of <scp>MuSK</scp> myasthenia gravis

    The role of muscle‐specific tyrosine kinase (<scp>MuSK</scp>) and mystery of <scp>MuSK</scp> myasthenia gravis 由 Inga Koneczny, Judith Cossins, Angela Vincent

    出版 2013
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  2. 2
    Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders

    Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders 由 Lisa Clausen, Judith Cossins, David Beeson

    出版 2018
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  3. 3
    MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters

    MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters 由 Inga Koneczny, Judith Cossins, Patrick Waters, David Beeson, Angela Vincent

    出版 2013
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  4. 4
    The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

    The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis 由 Pedro M. Rodríguez Cruz, Judith Cossins, David Beeson, Angela Vincent

    出版 2020
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  5. 5
    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome

    The spectrum of mutations that underlie the neuromuscular junction synaptopathy in DOK7 congenital myasthenic syndrome 由 Judith Cossins, Weiwei Liu, Katsiaryna Belaya, Susan Maxwell, Michael Oldridge, Tracy Lester, S. Robb, David Beeson

    出版 2012
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  6. 6
    Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects

    Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects 由 Stuart Viegas, Leslie Jacobson, Patrick Waters, Judith Cossins, Saiju Jacob, Maria Isabel Leite, Richard Webster, Angela Vincent

    出版 2012
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  7. 7
    Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR

    Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR 由 Katarzyna Marta Zoltowska, Richard Webster, Sarah Finlayson, Susan Maxwell, Judith Cossins, Juliane Müller, Hanns Lochmüller, David Beeson

    出版 2013
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  8. 8
    Clinical features of the DOK7 neuromuscular junction synaptopathy

    Clinical features of the DOK7 neuromuscular junction synaptopathy 由 Jacqueline Palace, Daniel Lashley, John Newsom–Davis, Judith Cossins, Susan Maxwell, Roger H. Kennett, Sandeep Jayawant, Yuji Yamanashi, D Beeson

    出版 2007
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  9. 9
    Clinical features of congenital myasthenic syndrome due to mutations in<i>DPAGT1</i>

    Clinical features of congenital myasthenic syndrome due to mutations in<i>DPAGT1</i> 由 Sarah Finlayson, Jacqueline Palace, Katsiaryna Belaya, Timothy J. Walls, Fiona Norwood, Georgina Burke, Janice L. Holton, Samuel Ignacio Pascual Pascual, Judith Cossins, David Beeson

    出版 2013
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  10. 10
    Seronegative antibody‐mediated neurology after immune checkpoint inhibitors

    Seronegative antibody‐mediated neurology after immune checkpoint inhibitors 由 R. Wilson, David A. Menassa, Alexander J. Davies, Sophia Michael, Joanna Hester, Wilhelm Küker, Graham P. Collins, Judith Cossins, David Beeson, Neil Steven, Paul Maddison, Simon Rinaldi, Saiju Jacob, Sarosh R. Irani

    出版 2018
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  11. 11
    Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

    Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates 由 Katsiaryna Belaya, Sarah Finlayson, Clarke R. Slater, Judith Cossins, Weiwei Liu, Susan Maxwell, Simon J. McGowan, Siarhei Maslau, Stephen R.F. Twigg, Timothy J. Walls, Samuel Ignacio Pascual Pascual, Jacqueline Palace, David Beeson

    出版 2012
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  12. 12
    Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i>

    Congenital myasthenic syndromes due to mutations in<i>ALG2</i>and<i>ALG14</i> 由 Judith Cossins, Katsiaryna Belaya, Debbie Hicks, Mustafa A. Salih, Sarah Finlayson, Nicola Carboni, Weiwei Liu, Susan Maxwell, Katarzyna Marta Zoltowska, Golara Torabi Farsani, Steven H. Laval, M.Z. Seidhamed, Peter Donnelly, David Bentley, Simon J. McGowan, Juliane Müller, Jacqueline Palace, Hanns Lochmüller, David Beeson

    出版 2013
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  13. 13
    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

    Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain 由 Clare V. Logan, Judith Cossins, Pedro M. Rodríguez Cruz, David Parry, Susan Maxwell, Pilar Martínez‐Martínez, Joey Riepsaame, Zakia A. Abdelhamed, Alice V. R. Lake, María Morán, S. Robb, Gabriel Chow, Caroline A. Sewry, Philip M. Hopkins, Eamonn Sheridan, Sandeep Jayawant, Jacqueline Palace, Colin A. Johnson, David Beeson

    出版 2015
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  14. 14
    Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

    Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission 由 Amina Chaouch, Vito Porcelli, Dan Cox, Simon Edvardson, Pasquale Scarcia, Anna Grassi, Ciro Leonardo Pierri, Judith Cossins, Steven H. Laval, Helen Griffin, Juliane Müller, Teresinha Evangelista, Ana Töpf, Angela Abicht, Angela Huebner, Maja von der Hagen, Kate Bushby, Volker Straub, Rita Horváth, Orly Elpeleg, Jacqueline Palace, Jan Senderek, David Beeson, Luigi Palmieri, Hanns Lochmüller

    出版 2014
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  15. 15
    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

    The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations 由 Pedro M. Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, Francina Munell, Kathryn Selby, Michio Hirano, Reza Maroofin, Mohammad Yahya Vahidi Mehrjardi, Gabriel Chow, Aisling Carr, Adnan Manzur, S. Robb, Pinki Munot, Weiwei Liu, Siddharth Banka, Harry Fraser, Christian de Goede, Edmar Zanoteli, Umbertina Conti Reed, Abigail Sage, M. Gratacós, Alfons Macaya, Marina Dusl, Jan Senderek, Ana Töpf, Monika Hofer, Ravi Knight, Sithara Ramdas, Sandeep Jayawant, Hanns Lochmüller, Jacqueline Palace, David Beeson

    出版 2019
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  16. 16
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 由 Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    出版 2021
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