Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Stephanie A, Robb"'
Autor:
Jackie Palace, Sithara Ramdas, Ravi Knight, Pinki Munot, Sandeep Jayawant, Stephanie A. Robb, David Beeson, Angela Vincent, Pedro M. Rodríguez Cruz, Domizia Vecchio, Catherine DeVile, Matthew Pitt, Camilla Buckley, David Hilton-Jones
Publikováno v:
Neuromuscular Disorders. 30:120-127
Our aim was to identify clinical outcomes, serological features and possible prognostic indicators of paediatric myasthenia gravis (MG). We collected 74 MG patients with disease onset before the age of 16 years (73% pre-pubertal onset defined as ≤1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b2922089841d6082b4aa3d036d808ba
https://doi.org/10.1016/j.nmd.2019.11.008
https://doi.org/10.1016/j.nmd.2019.11.008
Autor:
Pinki Munot, Stephanie A. Robb, Erik H. Niks, Jacqueline Palace, Erik Niks, Stephanie Robb, Amelia Evoli, Andrea Klein, Pedro Rodriquez Cruz, Bruno Eymard, Heinz Jungbluth, Corrie Erasmus, Adela Della Marina, Fulvio Baggi, Nancy Kuntz, Malene Børresen, Imelda Hughes, Sithara Ramdas, Monique Ryan, Matthew Pitt
Publikováno v:
Neuromuscular Disorders, 30(3), 254-264. PERGAMON-ELSEVIER SCIENCE LTD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87cd90b4d0d59a80d83e00420c431f01
https://hdl.handle.net/1887/3182689
https://hdl.handle.net/1887/3182689
Publikováno v:
Neuromuscular Disorders. 31:264
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9b072ca920eea5951190a8d573194301
https://doi.org/10.1016/j.nmd.2021.02.003
https://doi.org/10.1016/j.nmd.2021.02.003
Autor:
Jasper M. Morrow, John S. Thornton, Sarah Finlayson, David Beeson, MJ White, A Fischmann, Stephanie A. Robb, Tarek A. Yousry, Sandeep Jayawant, Jacqueline Palace, Steve Knight, Nicola Carboni, Christopher D. J. Sinclair, Pedro M. Rodríguez Cruz, Ray Norbury, Michal Al-Hajjar
Publikováno v:
Muscle & Nerve. 54:211-219
Introduction In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS). Methods Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (ST
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf85d9cf71516eb8ca7a7228d78100bc
https://doi.org/10.1002/mus.25035
https://doi.org/10.1002/mus.25035
Autor:
Stephanie A. Robb, Caroline Sewry, Elizabeth Wraige, F. Muntoni, R. Mein, Adnan Y. Manzur, Chiara Brusa, Pinki Munot, Lucy Feng, Rosaline Quinlivan, Rahul Phadke, Marion Main, Anna Sarkozy, D. Steel, Heinz Jungbluth
Publikováno v:
Neuromuscular Disorders. 29:S96-S97
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::612e204b3635fb2cdceed39525200a9b
https://doi.org/10.1016/j.nmd.2019.06.221
https://doi.org/10.1016/j.nmd.2019.06.221
Autor:
Anita Rauch, Andrea Klein, Katharina Steindl, Stephanie A. Robb, Pascal Joset, Heinrich Sticht, Miriam L. Giarrana
Publikováno v:
Muscle & Nerve. 52:668-673
Introduction: Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee09d3e9c8bc9c2c444d7b5b71fb894c
https://doi.org/10.1002/mus.24687
https://doi.org/10.1002/mus.24687
Autor:
Michael G. Hanna, Antonia Clarke, Heinz Jungbluth, S. Veronica Tan, Rahul R. Singh, Stephanie A. Robb
Publikováno v:
Pediatrics. 134:e1447-e1450
Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodiu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12499aa6ec40c911ee682ae54c35f92e
https://doi.org/10.1542/peds.2013-3727
https://doi.org/10.1542/peds.2013-3727
Autor:
Pinki Munot, Anna Sarkozy, R. Mein, Lucy Feng, Rahul Phadke, Marion Main, Rosaline Quinlivan, Adnan Y. Manzur, M. Sa, F. Muntoni, M. Distefano, Caroline Sewry, Stephanie A. Robb
Publikováno v:
Neuromuscular Disorders. 28:S46-S47
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::089a3c5d50472f561a3efa8c37e8dba1
https://doi.org/10.1016/j.nmd.2018.06.081
https://doi.org/10.1016/j.nmd.2018.06.081
Autor:
Deborah Ridout, Pinki Munot, Joana Domingos, Stephanie A. Robb, E. Chan, Matthew Fenton, Rosaline Quinlivan, Francesco Muntoni, Anna Sarkozy, C.G. Tay, Colin Wallis, Francois Abel, Adnan Y. Manzur, Mollie Riley, Michael Burch
Publikováno v:
Neuromuscular Disorders. 28:S14-S15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81cc08da492240fafa90255de9258b24
https://doi.org/10.1016/s0960-8966(18)30331-6
https://doi.org/10.1016/s0960-8966(18)30331-6
Autor:
Adnan Y. Manzur, T. Polvikoski, Lucy Feng, Marta Bertoli, Rahul Phadke, Caroline Sewry, Stephanie A. Robb, F. Muntoni, Rosaline Quinlivan, R. Barresi, S. Pula, V. Straub, Marion Main, Anna Sarkozy, R. Mein, Kathryn M. Brennan, Pinki Munot
Publikováno v:
Neuromuscular Disorders. 29:S141
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::65757b3b6431a001dc0f698ce534928b
https://doi.org/10.1016/j.nmd.2019.06.368
https://doi.org/10.1016/j.nmd.2019.06.368