Outpatient appointment non‐attendance and unplanned health care for children and young people with neurological conditions: a retrospective cohort study von Jarvis, Stuart, Livingston, John, Childs, Anne‐Marie, Fraser, Lorna

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Is chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) in children the same condition as in adults? von Sa, Mario, Green, Lydia, Abdel‐Mannan, Omar, Chong, W K Kling, Jacques, Thomas, Clarke, Antonia, Childs, Anne‐Marie, Lim, Ming, Hemingway, Cheryl, Hacohen, Yael

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The prevalence of neuromuscular disease in the paediatric population in Yorkshire, UK; variation by ethnicity and deprivation status von Woodcock, Ian R, Fraser, Lorna, Norman, Paul, Pysden, Karen, Manning, Sue, Childs, Anne‐Marie

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Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study von 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, De Sanctis, Roberto, Pirola, Alice, Longo, Antonella, Sframeli, Maria, Pedemonte, Marina, Pallant, Lindsey, Wraige, Elizabeth, Turner, Sarah, White, Kay, Glanzman, Allan M., Civitello, Matthew, Berardinelli, Angela, Baranello, Giovanni, Spinty, Stefan, Majumbdar, Anirban, Huges, Imelda, Krishnakumar, Deepa, Chow, Gabriel, Thomas, Neil, Ramdas, Sithara

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Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy von Schirwani, Schaida, Sarkozy, Anna, Phadke, Rahul, Childs, Anne-Marie, Mein, Rachael, Ismail, Azzam, Smith, Audrey, Muntoni, Francesco, Hobson, Emma, Pysden, Karen

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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 von Green, Peter, Wiseman, Matthew, Crow, Yanick J., Houlden, Henry, Riphagen, Shelley, Lin, Jean-Pierre, Raymond, F. Lucy, Childs, Anne-Marie, Sheridan, Eamonn, Edwards, Sian, Josifova, Dragana J.

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Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy von Zambon, Alberto A., Ayyar Gupta, Vandana, Ridout, Deborah, Manzur, Adnan Y., Baranello, Giovanni, Trucco, Federica, Muntoni, Francesco, Tirupath, Sandya, Douglas, Melanie, McFetridge, Jaci, Parasuraman, Deepak, Alhaswani, Zoya, McMurchie, Heather, Rabb, Rosanna, Majumdar, Anirban, Vijayakumar, Kayal, Amin, Sam, Mason, Faye, Frimpong‐Ansah, Claire, Gibbon, Frances, Parson, Bethan, Naismith, Karen, Burslem, Julie, Baxter, Alex, Eadie, Clare, Horrocks, Iain, Di Marco, Marina, Childs, Anne‐Marie, Pallant, Lindsey, Spinty, Stefan, Shillington, Alison, Gregson, Sarah, Cheshman, Laura, Wraige, Elizabeth, Gowda, Vasantha, Jungbluth, Heinz, Sheehan, Jennie, Hughes, Imelda, Warner, Sinead, Straub, Volker, Guglieri, Michela, Mayhew, Anna, Chow, Gabby, Williamson, Sarah, Willis, Tracey, Kulshrestha, Richa, Emery, Nicholas, Ramdas, Sithara, Ramjattan, Hayley, de Goede, Christian, Selley, Andrea, Ong, Min, White, Kay, Illingworth, Marjorie, Geary, Michelle, Palmer, Jenni, White, Cathy, Greenfield, Kate, Hewawitharana, Gemunu, Julien, Yvonne, Stephens, Elma, Tewnion, Jane, Ambegaonkar, Gautam, Krishnakumar, Deepa, Taylor, Jacqui, Ward, Catherine, Willis, Tracey, Wright, Elizabeth, Rylance, Claire

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Rituximab in juvenile myasthenia gravis-an international cohort study and literature review von Ramdas, Sithara, Della Marina, Adela, Ryan, Monique M., McWilliam, Kenneth, Klein, Andrea, Jacquier, David, Alabaf, Setareh, Childs, Anne-Marie, Parasuraman, Deepak, Beeson, David, Palace, Jacqueline, Jungbluth, Heinz

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A recent surge of fulminant and early onset subacute sclerosing panencephalitis (SSPE) in the United Kingdom: An emergence in a time of measles von Lam, Tanya, Ranjan, Rajesh, Newark, Kerensa, Surana, Snehal, Bhangu, Neeraj, Lazenbury, Abigail, Childs, Anne-Marie, Abbey, Ianthe, Gibbon, Frances, Thomas, Gareth, Singh, Jaspal, Prabhakar, Prab, Kaminska, Margaret, Lascelles, Karine, Hacohen, Yael, Brown, Kevin, Lim, Ming

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Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations von Geranmayeh, Fatemeh, Clement, Emma, Feng, Lucy H, Sewry, Caroline, Pagan, Judith, Mein, Rachael, Abbs, Stephen, Brueton, Louise, Childs, Anne-Marie, Jungbluth, Heinz, De Goede, Christian G, Lynch, Bryan, Lin, Jean-Pierre, Chow, Gabriel, Sousa, Carlos de, O’Mahony, Olivia, Majumdar, Anirban, Straub, Volker, Bushby, Katherine, Muntoni, Francesco

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Paediatric spinal cord infarction—a review of the literature and two case reports von Sheikh, Asim, Warren, Daniel, Childs, Anne-Marie, Russell, John, Liddington, Mark, Guruswamy, Velupandian, Chumas, Paul

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Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling von Logan, Clare V, Szabadkai, György, Sharpe, Jenny A, Parry, David A, Torelli, Silvia, Childs, Anne-Marie, Kriek, Marjolein, Phadke, Rahul, Johnson, Colin A, Roberts, Nicola Y, Bonthron, David T, Pysden, Karen A, Whyte, Tamieka, Munteanu, Iulia, Foley, A Reghan, Wheway, Gabrielle, Szymanska, Katarzyna, Natarajan, Subaashini, Abdelhamed, Zakia A, Morgan, Joanne E, Roper, Helen, Santen, Gijs W E, Niks, Erik H, van der Pol, W Ludo, Lindhout, Dick, Raffaello, Anna, De Stefani, Diego, den Dunnen, Johan T, Sun, Yu, Ginjaar, Ieke, Sewry, Caroline A, Hurles, Matthew, Rizzuto, Rosario, Duchen, Michael R, Muntoni, Francesco, Sheridan, Eamonn

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Growth pattern trajectories in boys with Duchenne muscular dystrophy von Stimpson, Georgia, Raquq, Sarah, Chesshyre, Mary, Fewtrell, Mary, Ridout, Deborah, Sarkozy, Anna, Manzur, Adnan, Ayyar Gupta, Vandana, De Amicis, Ramona, Muntoni, Francesco, Baranello, Giovanni

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The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease von Ng, Yi Shiau, Alston, Charlotte L, Diodato, Daria, Morris, Andrew A, Ulrick, Nicole, Kmoch, Stanislav, Houštěk, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvílová, Hana, Santra, Saikat, Brown, Ruth M, Brown, Garry K, Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P, Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Østergaard, Elsebet, Vanderver, Adeline, Goldstein, Amy, Vogt, Julie, Taylor, Robert W, McFarland, Robert

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Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain von Cornell, Nikki, Childs, Anne-Marie, Wraige, Elizabeth, Munot, Pinki, Ambegaonkar, Gautam, Chow, Gabriel, Hughes, Imelda, Illingworth, Marjorie, Majumdar, Anirban, Marini-Bettolo, Chiara, Parasuraman, Deepak, Spinty, Stefan, Willis, Tracey, Scoto, Mariacristina, Baranello, Giovanni

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The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy von Baranello, Giovanni, Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa, Willis, Tracey, Ramdas, Sithara, De Goede, Christian, Erbas, Yasemin, Brusa, Chiara, Scoto, Mariacristina, Muntoni, Francesco

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Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood von Lewis-Smith, David, Kamer, Kimberli J, Griffin, Helen, Childs, Anne-Marie, Pysden, Karen, Titov, Denis, Duff, Jennifer, Pyle, Angela, Taylor, Robert W, Yu-Wai-Man, Patrick, Ramesh, Venkateswaran, Horvath, Rita, Mootha, Vamsi K, Chinnery, Patrick F

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Assessment of face validity of a disease model of nonsense mutation Duchenne muscular dystrophy: a multi-national Delphi panel study von Landfeldt, Erik, Zhang, Rongrong, Childs, Anne-Marie, Johannsen, Jessika, O'Rourke, Declan, Sejersen, Thomas, Strautmanis, Jurgis, Schara-Schmidt, Ulrike, Tulinius, Mar, Walter, Maggie C., Willis, Tracey, Buesch, Katharina

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CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies von Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert D.S, Hilton-Jones, David, Schapira, Anthony H, Turner, Chris, Parton, Matt, Desikan, Mahalekshmi, Barresi, Rita, Marsh, Julie, Manzur, Adnan Y, Childs, Anne-Marie, Feng, Lucy, Murphy, Elaine, Lamont, Phillipa J, Ravenscroft, Gianina, Wallefeld, William, Davis, Mark R, Laing, Nigel G, Holton, Janice L, Fialho, Doreen, Bushby, Kate, Hanna, Michael G, Phadke, Rahul, Jungbluth, Heinz, Houlden, Henry, Quinlivan, Ros

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Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy von Campbell, Craig, McColl, Elaine, McDermott, Michael P., Martens, William B., Guglieri, Michela, Griggs, Robert C., Straub, Volker, Childs, Anne-Marie, Ciafaloni, Emma, Shieh, Perry B., Spinty, Stefan, Butterfield, Russell J., Horrocks, Iain, Roper, Helen, Maggi, Lorenzo, Baranello, Giovanni, Flanigan, Kevin M., Kuntz, Nancy L., Manzur, Adnan Y., Darras, Basil T., Kang, Peter, Mah, Jean K., Mongini, Tiziana, Ricci, Federica, Morrison, Leslie, Krzesniak-Swinarska, Monika, von der Hagen, Maja, Finkel, Richard S., Kumar, Ashutosh, Wicklund, Matthew, McDonald, Craig M., Henricson, Erik K., Schara-Schmidt, Ulrike, Wilichowski, Ekkehard, Barohn, Richard J., Statland, Jeffrey, Kirschner, Janbernd, Vita, Giuseppe, Vita, Gian Luca, Howard, James F., Hughes, Imelda, McMillan, Hugh J., Pegoraro, Elena, Bello, Luca, Burnette, W. Bryan, Thangarajh, Mathula, Chang, Taeun

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