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

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

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 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

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

Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? von KERR, Tim P, SEWRY, Caroline A, ROBB, Stephanie A, ROBERTS, Roland G

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

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

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

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

Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK von Robb, Stephanie A, Muntoni, Francesco, Simonds, Anita K

Volltext

Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome von Jephson, Chris G, Mills, Nikki A, Pitt, Matthew C, Beeson, David, Aloysius, Annie, Muntoni, Francesco, Robb, Stephanie A, Bailey, C. Martin

Volltext

The multiple phenotypes of Arthrogryposis multiplex congenita with reference to the neurogenic variant von Ambegaonkar, Gautam, Manzur, Adnan Y, Robb, Stephanie A, Kinali, Maria, Muntoni, Francesco

Volltext

Michael-Type Addition Reactions in NIPAAm-Cysteamine Copolymers Follow Second Order Rate Laws with Steric Hindrance von McLemore, Ryan, Robb, Stephanie A, Lee, Bae Hoon, Caplan, Michael R, Vernon, Brent L

Volltext

Spinal stability is improved by inducing a lumbar lordosis in boys with Duchenne Muscular Dystrophy: A pilot study von Kerr, Tim P, Lin, Jean-Pierre, Gresty, Michael A, Morley, Tim, Robb, Stephanie A

Volltext