- Paediatrics (RCH) - Research Publications
Paediatrics (RCH) - Research Publications
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ItemNo Preview Available242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1-3 March 2019.Munot, P ; Robb, SA ; Niks, EH ; Palace, J ; ENMC workshop study group, (Elsevier BV, 2020-03)
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ItemNo Preview AvailablePlasma Phosphorylated Neurofilament Heavy Chain Levels Over Time in Participants With Infantile-and Later-onset SMA: Data from the SHINE StudyDarras, BT ; Sumner, CJ ; Muntoni, F ; Crawford, TO ; Finkel, RS ; Mercuri, E ; De Vivo, DC ; Oskoui, M ; Tizzano, EF ; Ryan, MM ; Liu, Y ; Petrillo, M ; Kandinov, B ; Wong, J ; Farwell, W (Lippincott Williams & Wilkins, 2020-04-14)
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ItemNo Preview AvailableLonger-term Experience with Nusinersen in Teenagers and Young Adults with Spinal Muscular Atrophy: Phosphorylated Neurofilament Heavy Chain (pNF-H) and Efficacy Results From the CS2-12/SHINE StudiesMuntoni, F ; Darras, BT ; Finkel, RS ; Ryan, MM ; Mercuri, E ; Tulinius, M ; Deconinck, N ; Ramirez-Schrempp, D ; Foster, R ; Liu, Y ; Petrillo, M ; Wong, J ; Kandinov, B ; Farwell, W (Wiley, 2020-05-01)
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ItemNo Preview AvailableInvolving families in the design of a weight management program for Duchenne muscular dystrophy - Supporting nutrition and optimising wellbeing programBillich, N ; Bray, P ; Truby, H ; Evans, M ; Sowerby, B ; de Valle, K ; Carroll, K ; Villano, D ; Ryan, M ; Davidson, Z (PERGAMON-ELSEVIER SCIENCE LTD, 2020-10)
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ItemPediatric Charcot-Marie-tooth disease clinical practice guidelineYiu, E ; Burns, J ; Bray, P ; Menezes, M ; Ryan, M (Wiley, 2020-12-01)
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ItemEnergy metabolism and mitochondrial defects in patient iPSC-derived motor neurons with the CMTX6-causative PDK3 mutationSiles, GP ; Cutrupi, A ; Uesugi, M ; Choi, B-O ; Ryan, M ; Kennerson, M (WILEY, 2020-12-01)