Publications by authors named "Elizabeth Wraige"

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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.
Amy Wolfe, Jennie Sheehan, Alex Schofield, Helen Cranney, Emer O'Reilly, Elizabeth Wraige

Neuromuscul Disord· November 2024

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Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.
Rebecca Finnegan, Adnan Manzur, Pinki Munot, Anil Dhawan, Archana Murugan, Elizabeth Wraige

Neuromuscul Disord· September 2024

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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.
Nikki Cornell, Anne-Marie Childs, Elizabeth Wraige, Pinki Munot, Gautam Ambegaonkar

J Neuromuscul Dis· March 2024

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Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Elizabeth Wraige

Nat Genet· March 2024

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Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Vasantha Gowda, Mark Atherton, Archana Murugan, Laurent Servais, Jennie Sheehan, Elizabeth Wraige

Lancet Reg Health Eur· February 2024

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The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Nicholas M Allen, Mark O'Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Elizabeth Wraige

Brain· October 2023

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Gene therapy for spinal muscular atrophy.
Vasantha Lakshmi Gowda, Heinz Jungbluth, Elizabeth Wraige

Arch Dis Child Educ Pract Ed· October 2023

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Long-term Natural History of Pediatric Dominant and Recessive -Related Myopathy.
Anna Sarkozy, Mario Sa, Deborah Ridout, Miguel Angel Fernandez-Garcia, Maria Grazia Distefano, Elizabeth Wraige

Neurology· October 2023

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New treatments in spinal muscular atrophy.
Vasantha Lakshmi Gowda, Miguel A Fernandez-Garcia, Heinz Jungbluth, Elizabeth Wraige

Arch Dis Child· July 2023

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RCPCH Stroke in Childhood Guidelines: how well are these being followed?
Yoshua Colyn Collins-Sawaragi, Hannah Walker, Julia Sanpera-Iglesias, Susan Byrne, Elizabeth Wraige

Arch Dis Child· April 2021

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Making sense of missense variants in TTN-related congenital myopathies.
Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Elizabeth Wraige

Acta Neuropathol· March 2021

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Genetic neuropathies presenting with CIDP-like features in childhood.
Miguel A Fernandez-Garcia, Georg M Stettner, Maria Kinali, Antonia Clarke, Penny Fallon, Elizabeth Wraige

Neuromuscul Disord· February 2021

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Seeking normality: Parents' experiences of childhood stroke.
Christopher McKevitt, Marta Topor, Anna Panton, Andrew A Mallick, Vijeya Ganesan, Elizabeth Wraige

Child Care Health Dev· January 2019

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Self-reported needs after pediatric stroke.
Anne L Gordon, Loan Nguyen, Anna Panton, Andrew A Mallick, Vijeya Ganesan, Elizabeth Wraige

Eur J Paediatr Neurol· September 2018

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Mobility shift of beta-dystroglycan as a marker of gene-related muscular dystrophy.
Anna Sarkozy, Silvia Torelli, Rachael Mein, Matt Henderson, Rahul Phadke, Elizabeth Wraige

J Neurol Neurosurg Psychiatry· July 2018

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Neuroimaging in Juvenile Alexander Disease: Tumour-like Brainstem Lesions.
Ai Peng Tan, Chhabda Sahil, Robert Robinson, Ata Siddiqui, Elizabeth Wraige

Ann Acad Med Singap· May 2018

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Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia.
Nicholas M Allen, Hormos S Dafsari, Elizabeth Wraige, Heinz Jungbluth

J Child Neurol· April 2018

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Unusual Presentations of Dystrophinopathies in Childhood.
Nicholas M Allen, Alice Ewer, Vasiliki Nakou, Ele Konstantoulaki, Elizabeth Wraige

Pediatrics· April 2018

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Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya.
Sara C Tho-Calvi, Dominic Thompson, Dawn Saunders, Shakti Agrawal, Anna Basu, Elizabeth Wraige

Neurology· February 2018

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Management and outcomes of cochlear implantation in patients with congenital cytomegalovirus (cCMV)-related deafness.
Andrew Wesley Hoey, Irumee Pai, Sandra Driver, Steve Connor, Elizabeth Wraige

Cochlear Implants Int· July 2017

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The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.
Katie A Mitzelfelt, Pattraranee Limphong, Melinda J Choi, Frances D L Kondrat, Shuping Lai, Elizabeth Wraige

J Biol Chem· July 2016

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An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
Rubén J Lopez, Susan Byrne, Mirko Vukcevic, Marijana Sekulic-Jablanovic, Lifen Xu, Elizabeth Wraige

Sci Signal· July 2016

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Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population-based cohort.
Andrew A Mallick, Vijeya Ganesan, Fenella J Kirkham, Penny Fallon, Tammy Hedderly, Elizabeth Wraige

Ann Neurol· May 2016

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Surgery for scoliosis in Duchenne muscular dystrophy.
Daniel K L Cheuk, Virginia Wong, Elizabeth Wraige, Peter Baxter, Ashley Cole

Cochrane Database Syst Rev· October 2015

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Guillain-Barré syndrome associated with CASPR2 antibodies: two paediatric cases.
Richard E Rosch, Alasdair Bamford, Yael Hacohen, Elizabeth Wraige, Angela Vincent

J Peripher Nerv Syst· September 2014

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