Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study
Mallick, Andrew A, MB BCh, Ganesan, Vijeya, MD, Kirkham, Fenella J, Prof, Fallon, Penny, MBBS, Hedderly, Tammy, MBBS, McShane, Tony, MD, Parker, Alasdair P, MD, Wassmer, Evangeline, MBChB, Wraige, Elizabeth, MBBS, Amin, Samir, MSc, Edwards, Hannah B, MA, Tilling, Kate, Prof, O'Callaghan, Finbar J, Dr
Published in Lancet neurology (2014)
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Surgery for scoliosis in Duchenne muscular dystrophy
Cheuk, Daniel K L, Wong, Virginia, Wraige, Elizabeth, Baxter, Peter, Cole, Ashley
Published in Cochrane database of systematic reviews (01.10.2015)
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Unusual Presentations of Dystrophinopathies in Childhood
Allen, Nicholas M, Ewer, Alice, Nakou, Vasiliki, Konstantoulaki, Ele, Wraige, Elizabeth, Gowda, Vasantha, Jungbluth, Heinz
Published in Pediatrics (Evanston) (01.04.2018)
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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study
Kurian, Manju A, Dr, Li, Yan, PhD, Zhen, Juan, PhD, Meyer, Esther, PhD, Hai, Nebula, BSc, Christen, Hans-Jürgen, Prof, Hoffmann, Georg F, Prof, Jardine, Philip, MD, von Moers, Arpad, MD, Mordekar, Santosh R, MD, O'Callaghan, Finbar, PhD, Wassmer, Evangeline, FRCPCH, Wraige, Elizabeth, FRCPCH, Dietrich, Christa, PhD, Lewis, Timothy, FRCR, Hyland, Keith, PhD, Heales, Simon JR, Prof, Sanger, Terence, MD, Gissen, Paul, PhD, Assmann, Birgit E, MD, Reith, Maarten EA, Prof, Maher, Eamonn R, Prof
Published in Lancet neurology (01.01.2011)
Published in Lancet neurology (01.01.2011)
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Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy
HENG, HOCK S, TANG, SHAN S, GOYAL, SUSHMA, WRAIGE, ELIZABETH A, LIM, MING J
Published in Developmental medicine and child neurology (01.02.2012)
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New treatments in spinal muscular atrophy
Gowda, Vasantha Lakshmi, Fernandez-Garcia, Miguel A., Jungbluth, Heinz, Wraige, Elizabeth
Published in Archives of disease in childhood (01.07.2023)
Published in Archives of disease in childhood (01.07.2023)
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Gene therapy for spinal muscular atrophy
Gowda, Vasantha Lakshmi, Jungbluth, Heinz, Wraige, Elizabeth
Published in Archives of disease in childhood. Education and practice edition (01.10.2023)
Published in Archives of disease in childhood. Education and practice edition (01.10.2023)
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Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec – The SMA REACH UK network experience
Wolfe, Amy, Sheehan, Jennie, Schofield, Alex, Cranney, Helen, O'Reilly, Emer, Stimpson, Georgia, Andrews, Alice, Vanegas, Maria, Lucas, Jonathan, Scoto, Mariacristina, Gowda, Vasantha, Wraige, Elizabeth, Jungbluth, Heinz
Published in Neuromuscular disorders : NMD (01.11.2024)
Published in Neuromuscular disorders : NMD (01.11.2024)
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Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1
Finnegan, Rebecca, Manzur, Adnan, Munot, Pinki, Dhawan, Anil, Murugan, Archana, Majumdar, Anirban, Wraige, Elizabeth, Gowda, Vasantha, Vanegas, Maria, Main, Marion, O'Reilly, Emer, Baranello, Giovanni, Muntoni, Francesco, Scoto, Mariacristina
Published in Neuromuscular disorders : NMD (01.09.2024)
Published in Neuromuscular disorders : NMD (01.09.2024)
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Real-world experience of gene therapy with onasemnogene-abeparvovec (Zolgensma®) for patients with SMA-type1 in UK
Gowda, Vasantha, Wraige, Elizabeth, Ong, Min, Atherton, Mark, Majumdar, Anirban, Marco, Silvia Sanchez, Hughes, Imelda, Mccullagh, Gary, Muntoni, Francesco, Jungbluth, Heinz
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2022)
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Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Diagnostic delays in paediatric stroke
Mallick, Andrew A, Ganesan, Vijeya, Kirkham, Fenella J, Fallon, Penny, Hedderly, Tammy, McShane, Tony, Parker, Alasdair P, Wassmer, Evangeline, Wraige, Elizabeth, Amin, Samir, Edwards, Hannah B, O'Callaghan, Finbar J
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2015)
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Long-term Natural History of Pediatric Dominant and Recessive RYR1 -Related Myopathy
Sarkozy, Anna, Sa, Mario, Ridout, Deborah, Fernandez-Garcia, Miguel Angel, Distefano, Maria Grazia, Main, Marion, Sheehan, Jennie, Manzur, Adnan Y, Munot, Pinki, Robb, Stephanie, Wraige, Elizabeth, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Gowda, Vasantha, Mein, Rachael, Phadke, Rahul, Jungbluth, Heinz, Muntoni, Francesco
Published in Neurology (10.10.2023)
Published in Neurology (10.10.2023)
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Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study
Trucco, Federica, Ridout, Deborah, Scoto, Mariacristina, Coratti, Giorgia, Main, Marion L, Muni Lofra, Robert, Mayhew, Anna G, Montes, Jacqueline, Pane, Marika, Sansone, Valeria, Albamonte, Emilio, D'Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Parasuraman, Deepak, Childs, Anne-Marie, Gowda, Vasantha, Willis, Tracey, Ong, Min, Marini-Bettolo, Chiara, De Vivo, Darryl C, Darras, Basil T, Day, John, Kichula, Elizabeth A, Mayer, Oscar H, Navas Nazario, Aledie A, Finkel, Richard S, Mercuri, Eugenio, Muntoni, Francesco
Published in Neurology (26.01.2021)
Published in Neurology (26.01.2021)
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Genetic neuropathies presenting with CIDP-like features in childhood
Fernandez-Garcia, Miguel A., Stettner, Georg M., Kinali, Maria, Clarke, Antonia, Fallon, Penny, Knirsch, Ursula, Wraige, Elizabeth, Jungbluth, Heinz
Published in Neuromuscular disorders : NMD (01.02.2021)
Published in Neuromuscular disorders : NMD (01.02.2021)
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Seeking normality: Parents' experiences of childhood stroke
McKevitt, Christopher, Topor, Marta, Panton, Anna, Mallick, Andrew A., Ganesan, Vijeya, Wraige, Elizabeth, Gordon, Anne
Published in Child : care, health & development (01.01.2019)
Published in Child : care, health & development (01.01.2019)
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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
Allen, Nicholas M, O’Rahelly, Mark, Eymard, Bruno, Chouchane, Mondher, Hahn, Andreas, Kearns, Gerry, Kim, Dae-Seong, Byun, Shin Yun, Nguyen, Cam-Tu Emilie, Schara-Schmidt, Ulrike, Kölbel, Heike, Marina, Adela Della, Schneider-Gold, Christiane, Roefke, Kathryn, Thieme, Andrea, Van den Bergh, Peter, Avalos, Gloria, Álvarez-Velasco, Rodrigo, Natera-de Benito, Daniel, Cheng, Man Hin Mark, Chan, Wing Ki, Wan, Hoi Shan, Thomas, Mary Ann, Borch, Lauren, Lauzon, Julie, Kornblum, Cornelia, Reimann, Jens, Mueller, Andreas, Kuntzer, Thierry, Norwood, Fiona, Ramdas, Sithara, Jacobson, Leslie W, Jie, Xiaobo, Fernandez-Garcia, Miguel A, Wraige, Elizabeth, Lim, Ming, Lin, Jean Pierre, Claeys, Kristl G, Aktas, Selma, Oskoui, Maryam, Hacohen, Yael, Masud, Ameneh, Leite, M Isabel, Palace, Jacqueline, De Vivo, Darryl, Vincent, Angela, Jungbluth, Heinz
Published in Brain (London, England : 1878) (03.10.2023)
Published in Brain (London, England : 1878) (03.10.2023)
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Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort
Mallick, Andrew A., Ganesan, Vijeya, Kirkham, Fenella J., Fallon, Penny, Hedderly, Tammy, McShane, Tony, Parker, Alasdair P., Wassmer, Evangeline, Wraige, Elizabeth, Amin, Sam, Edwards, Hannah B., Cortina-Borja, Mario, O'Callaghan, Finbar J.
Published in Annals of neurology (01.05.2016)
Published in Annals of neurology (01.05.2016)
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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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