Search Results - "Robb, Stephanie A"

242nd ENMC International Workshop: Diagnosis and management of juvenile myasthenia gravis Hoofddorp, the Netherlands, 1–3 March 2019 by 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

“…•Review of literature juvenile myasthenia gravis.•Consensus on diagnosis of juvenile myasthenia gravis.•Consensus on treatment of juvenile myasthenia…”
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Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum by 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

“…Aim Benign hereditary chorea is a dominantly inherited, childhood‐onset hyperkinetic movement disorder characterized by non‐progressive chorea and variable…”
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The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy by Houlden, Henry, Laura, Matilde, Ginsberg, Lionel, Jungbluth, Heinz, Robb, Stephanie A, Blake, Julian, Robinson, Susan, King, Rosalind H.M, Reilly, Mary M

“…Abstract Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies. The locus responsible for CMT4C was…”
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Congenital myopathies: Natural history of a large pediatric cohort by 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

“…OBJECTIVE:To assess the natural history of congenital myopathies (CMs) due to different genotypes. METHODS:Retrospective cross-sectional study based on…”
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Corrigendum to “Workshop report: 242nd ENMC international workshop: Diagnosis and management of juvenile myasthenia gravis, Hoofddorp, the Netherlands, 1–3 March 2019” [Neuromuscular Disorders 30 (2020) 254–264] by Munot, Pinki, Robb, Stephanie A., Niks, Erik H., Palace, Jacqueline

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

“…More than 98% of Duchenne muscular dystrophy (DMD) mutations result in the premature termination of the dystrophin open reading frame at various points over…”
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Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes by Rodríguez Cruz, Pedro M, Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A, Beeson, David

“…OBJECTIVE:To evaluate the response to salbutamol and ephedrine in the treatment of congenital myasthenic syndromes due to CHRNE mutations causing severe…”
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Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy by Ricotti, Valeria, Ridout, Deborah A, Scott, Elaine, Quinlivan, Ros, Robb, Stephanie A, Manzur, Adnan Y, Muntoni, Francesco

“…Objective To assess the current use of glucocorticoids (GCs) in Duchenne muscular dystrophy in the UK, and compare the benefits and the adverse events of daily…”
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Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm by Singh, Rahul R, Tan, S Veronica, Hanna, Michael G, Robb, Stephanie A, Clarke, Antonia, Jungbluth, Heinz

“…Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying…”
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Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? by Alshaikh, Nahla, Brunklaus, Andreas, Davis, Tracey, Robb, Stephanie A, Quinlivan, Ros, Munot, Pinki, Sarkozy, Anna, Muntoni, Francesco, Manzur, Adnan Y

“…AimAssessment of the efficacy of vitamin D replenishment and maintenance doses required to attain optimal levels in boys with Duchenne muscular dystrophy…”
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Simultaneously Physically and Chemically Gelling Polymer System Utilizing a Poly(NIPAAm-co-cysteamine)-Based Copolymer by Robb, Stephanie A, Lee, Bae Hoon, McLemore, Ryan, Vernon, Brent L

“…The objective of this work was to create an in situ physically and chemically cross-linking hydrogel for in vivo applications. N-Isopropylacrylamide (NIPAAm)…”
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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease by 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

“…Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations…”
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Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies by 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

“…Abstract Many clinical features of autosomal centronuclear myopathies (CNM) and X-linked myotubular myopathy (XLMTM) are common to congenital myasthenic…”
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Muscle magnetic resonance imaging in congenital myasthenic syndromes by 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

“…ABSTRACT Introduction In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS). Methods Twenty‐six patients…”
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DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children by 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

“…Abstract Mutations in DOK7 are a common cause of congenital myasthenia. Treatment with ephedrine or salbutamol is effective, but diagnosis is often delayed…”
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Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK by Robb, Stephanie A, Muntoni, Francesco, Simonds, Anita K

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In vitro and in vivo demonstration of physically and chemically in situ gelling NIPAAm-based copolymer system by Lee, Bae Hoon, Beart, Hanin H., Cheng, Vicki, McLemore, Ryan, Robb, Stephanie A., Cui, Zhanwu, Dovigi, Allan, Vernon, Brent L.

“…Poly(NIPAAm-co-hydroxyethylmethacarylate (HEMA)) acrylate and poly(NIPAAm-co-cysteine ethyl ester (CysOEt)) were synthesized and characterized by GPC(gel…”
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Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndrome by Jephson, Chris G, Mills, Nikki A, Pitt, Matthew C, Beeson, David, Aloysius, Annie, Muntoni, Francesco, Robb, Stephanie A, Bailey, C. Martin

“…Abstract Objective The congenital myasthenic syndromes (CMS) are a group of genetic disorders of neuromuscular transmission causing fatigable weakness…”
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The multiple phenotypes of Arthrogryposis multiplex congenita with reference to the neurogenic variant by Ambegaonkar, Gautam, Manzur, Adnan Y, Robb, Stephanie A, Kinali, Maria, Muntoni, Francesco

“…Abstract Arthrogryposis can occur in isolation or as part of a syndrome. Amyoplasia, the commonest type of arthrogryposis, has been well described in…”
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Michael-Type Addition Reactions in NIPAAm-Cysteamine Copolymers Follow Second Order Rate Laws with Steric Hindrance by McLemore, Ryan, Robb, Stephanie A, Lee, Bae Hoon, Caplan, Michael R, Vernon, Brent L

“…This work investigates the differential reaction rates seen among several Michael-Type acceptors when reacted with poly(NIPAAm-co-cysteamine). This work…”
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