242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019 von Munot, Pinki, Robb, Stephanie A., Niks, Erik H., Palace, Jacqueline, Munot, Pinki, Palace, Jacqueline, Niks, Erik, Robb, Stephanie, Evoli, Amelia, Klein, Andrea, Cruz, Pedro Rodriquez, Eymard, Bruno, Jungbluth, Heinz, Erasmus, Corrie, Marina, Adela Della, Baggi, Fulvio, Kuntz, Nancy, Børresen, Malene, Hughes, Imelda, Ramdas, Sithara, Ryan, Monique, Pitt, Matthew

Volltext

Congenital myopathies: Natural history of a large pediatric cohort von Colombo, Irene, Scoto, Mariacristina, Manzur, Adnan Y, Robb, Stephanie A, Maggi, Lorenzo, Gowda, Vasantha, Cullup, Thomas, Yau, Michael, Phadke, Rahul, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco

Volltext

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy von Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco

Volltext

Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscul... von Munot, Pinki, Robb, Stephanie A., Niks, Erik H., Palace, Jacqueline

Volltext

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period von Sframeli, Maria, Sarkozy, Anna, Bertoli, Marta, Astrea, Guja, Hudson, Judith, Scoto, Mariacristina, Mein, Rachael, Yau, Michael, Phadke, Rahul, Feng, Lucy, Sewry, Caroline, Fen, Adeline Ngoh Seow, Longman, Cheryl, McCullagh, Gary, Straub, Volker, Robb, Stephanie, Manzur, Adnan, Bushby, Kate, Muntoni, Francesco

Volltext

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes von Rodríguez Cruz, Pedro M, Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A, Beeson, David

Volltext

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

Volltext

Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm von Singh, Rahul R, Tan, S Veronica, Hanna, Michael G, Robb, Stephanie A, Clarke, Antonia, Jungbluth, Heinz

Volltext

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

Volltext

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum von Peall, Kathryn J, Lumsden, Daniel, Kneen, Rachel, Madhu, Rajesh, Peake, Deirdre, Gibbon, Frances, Lewis, Hilary, Hedderly, Tammy, Meyer, Esther, Robb, Stephanie A, Lynch, Bryan, King, Mary D, Lin, Jean‐Pierre, Morris, Huw R, Jungbluth, Heinz, Kurian, Manju A

Volltext

Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? von Alshaikh, Nahla, Brunklaus, Andreas, Davis, Tracey, Robb, Stephanie A, Quinlivan, Ros, Munot, Pinki, Sarkozy, Anna, Muntoni, Francesco, Manzur, Adnan Y

Volltext

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children von Klein, Andrea, Pitt, Matthew C, McHugh, John C, Niks, Erik H, Sewry, Caroline A, Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y, Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sarah, Palace, Jacqueline, Muntoni, Francesco, Beeson, David, Robb, Stephanie A

Volltext

Simultaneously Physically and Chemically Gelling Polymer System Utilizing a Poly(NIPAAm-co-cysteamine)-Based Copolymer von Robb, Stephanie A, Lee, Bae Hoon, McLemore, Ryan, Vernon, Brent L

Volltext

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease von Pitceathly, Robert D S, Murphy, Sinéad M, Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G, Woodward, Cathy, Mudanohwo, Ese E, Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L, Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A, Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P, Rahman, Shamima, Reilly, Mary M, Hanna, Michael G

Volltext

Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies von Robb, Stephanie A, Sewry, Caroline A, Dowling, James J, Feng, Lucy, Cullup, Tom, Lillis, Sue, Abbs, Stephen, Lees, Melissa M, Laporte, Jocelyn, Manzur, Adnan Y, Knight, Ravi K, Mills, Kerry R, Pike, Michael G, Kress, Wolfram, Beeson, David, Jungbluth, Heinz, Pitt, Matthew C, Muntoni, Francesco

Volltext

Muscle magnetic resonance imaging in congenital myasthenic syndromes von Finlayson, Sarah, Morrow, Jasper M., Rodriguez Cruz, Pedro M., Sinclair, Christopher D.J., Fischmann, Arne, Thornton, John S., Knight, Steve, Norbury, Ray, White, Mel, Al-hajjar, Michal, Carboni, Nicola, Jayawant, Sandeep, Robb, Stephanie A., Yousry, Tarek A., Beeson, David, Palace, Jacqueline

Volltext

The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy von Houlden, Henry, Laura, Matilde, Ginsberg, Lionel, Jungbluth, Heinz, Robb, Stephanie A, Blake, Julian, Robinson, Susan, King, Rosalind H.M, Reilly, Mary M

Volltext

Congenital Myasthenic Syndrome caused by mutations in DPAGT von Klein, Andrea, Robb, Stephanie, Rushing, Elisabeth, Liu, Wei-Wei, Belaya, Kasiaryna, Beeson, David

Volltext

Clinical features in a series of fast channel congenital myasthenia syndrome von Palace, Jacqueline, Lashley, Daniel, Bailey, Stephen, Jayawant, Sandeep, Carr, Aisling, McConville, John, Robb, Stephanie, Beeson, David

Volltext

Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort von Brunet Garcia, Laia, Hajra, Ankita, Field, Ella, Wacher, Joseph, Walsh, Helen, Norrish, Gabrielle, Manzur, Adnan, Muntoni, Francesco, Munot, Pinki, Robb, Stephanie, Quinlivan, Rosaline, Scoto, Mariacristina, Baranello, Giovanni, Sarkozy, Anna, Starling, Luke, Kaski, Juan Pablo, Cervi, Elena

Volltext