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E. Wraige · SciRah

Researcher profile · Semantic Scholar

E. Wraige

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E. Wraige — researcher profile on SciRah

h-index: 27
Works: 118
Citations: 3,227

Most-cited papers

Childhood arterial ischaemic stroke incidence, presenting features, and risk factors: a prospective population-based study.
A. Mallick, V. Ganesan, F. Kirkham, P. Fallon +9 more
2014Lancet Neurology337 citations
Semantic Scholar
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Y. Nitschke, G. Baujat, Ulrike Botschen, Tanja Wittkampf +27 more
2012American Journal of Human Genetics332 citations Open access
Semantic Scholar
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
K. Carss, E. Stevens, A. Foley, S. Çırak +31 more
2013American Journal of Human Genetics219 citations Open access
Semantic Scholar
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis.
N. Dlamini, N. Voermans, S. Lillis, K. Stewart +24 more
2013Neuromuscular Disorders193 citations
Semantic Scholar
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study
M. Kurian, Yan Li, J. Zhen, E. Meyer +18 more
2010Lancet Neurology193 citations Open access
Semantic Scholar
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies
A. Klein, S. Lillis, I. Munteanu, M. Scoto +28 more
2012Human Mutation166 citations
Semantic Scholar
Congenital Insensitivity to Pain: Novel SCN9A Missense and In-Frame Deletion Mutations
J. Cox, Jony Sheynin, Z. Shorer, F. Reimann +8 more
2010Human Mutation133 citations Open access
Semantic Scholar
Diagnostic delays in paediatric stroke
A. Mallick, V. Ganesan, F. Kirkham, P. Fallon +8 more
2014Journal of Neurology Neurosurgery & Psychiatry115 citations
Semantic Scholar
King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.
J. Dowling, S. Lillis, K. Amburgey, Hai-Yan Zhou +12 more
2011Neuromuscular Disorders106 citations
Semantic Scholar
NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY
P. Lamont, W. Wallefeld, D. Hilton-Jones, B. Udd +26 more
2014Human Mutation93 citations Open access
Semantic Scholar
Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations.
A. Klein, H. Jungbluth, E. Clement, S. Lillis +8 more
2011Archives of Neurology90 citations
Semantic Scholar
Surgery for scoliosis in Duchenne muscular dystrophy.
D. Cheuk, V. Wong, E. Wraige, P. Baxter +1 more
2013Cochrane Database of Systematic Reviews64 citations Open access
Semantic Scholar
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.
N. Dlamini, D. Josifova, S. Paine, E. Wraige +9 more
2013Neuromuscular Disorders60 citations
Semantic Scholar
Making sense of missense variants in TTN-related congenital myopathies
Martin Rees, R. Nikoopour, A. Fukuzawa, A. L. Kho +41 more
2021Acta Neuropathologica58 citations Open access
Semantic Scholar
Interfamilial phenotypic heterogeneity in SMARD1.
S. Joseph, S. Robb, S. Mohammed, S. Lillis +4 more
2009Neuromuscular Disorders53 citations
Semantic Scholar
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
V. Gowda, Mark Atherton, Archana Murugan, L. Servais +33 more
2023The Lancet Regional Health - Europe46 citations Open access
Semantic Scholar
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
R. Lopez, S. Byrne, M. Vukcevic, M. Sekulic-Jablanovic +14 more
2016Science Signaling44 citations Open access
Semantic Scholar
Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy
A. Zambon, V. Ayyar Gupta, D. Ridout, A. Manzur +64 more
2022Developmental Medicine & Child Neurology41 citations Open access
Semantic Scholar
Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin.
K. Forrest, J. Mellerio, S. Robb, P. Dopping-Hepenstal +6 more
2010Neuromuscular Disorders41 citations
Semantic Scholar
Clinical features, course, and outcomes of a UK cohort of pediatric moyamoya
Sara Tho-Calvi, D. Thompson, D. Saunders, S. Agrawal +15 more
2018Neurology39 citations Open access
Semantic Scholar
Outcome and recurrence 1 year after pediatric arterial ischemic stroke in a population‐based cohort
Andrew A. Mallick, V. Ganesan, F. Kirkham, P. Fallon +9 more
2016Annals of Neurology36 citations Open access
Semantic Scholar
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
G. J. Knuiman, B. Küsters, L. Eshuis, M. Snoeck +16 more
2019Journal of Neurology33 citations Open access
Semantic Scholar
Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy.
H. S. Heng, M. Lim, M. Absoud, C. Austin +5 more
2014Neuromuscular Disorders32 citations
Semantic Scholar
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD)
N. Allen, M. O’Rahelly, B. Eymard, M. Chouchane +43 more
2023Brain : a journal of neurology29 citations Open access
Semantic Scholar
Generalized arterial calcification of infancy: Phenotypic spectrum among three siblings including one case without obvious arterial calcifications
N. Dlamini, M. Splitt, A. Durkan, A. Siddiqui +4 more
2009American Journal of Medical Genetics. Part A29 citations
Semantic Scholar
Growth pattern trajectories in boys with Duchenne muscular dystrophy
G. Stimpson, S. Raquq, M. Chesshyre, M. Fewtrell +41 more
2022Orphanet Journal of Rare Diseases27 citations Open access
Semantic Scholar
Outcome and recurrence one year after paediatric arterial ischaemic stroke in a population-based cohort
A. Mallick, V. Ganesan, M. Chb., F. Kirkham +11 more
201627 citations
Semantic Scholar
Seeking normality: Parents' experiences of childhood stroke
C. McKevitt, M. Topor, Anna Panton, A. Mallick +3 more
2018Child: Care, Health and Development24 citations Open access
Semantic Scholar
Guillain‐Barré syndrome associated with CASPR2 antibodies: two paediatric cases
R. Rosch, A. Bamford, Y. Hacohen, E. Wraige +3 more
2014Journal of the peripheral nervous system23 citations
Semantic Scholar
New treatments in spinal muscular atrophy
V. Gowda, M. Fernández-García, H. Jungbluth, E. Wraige
2022Archives of Disease in Childhood22 citations
Semantic Scholar
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
A. Töpf, D. Cox, I. Zaharieva, Valeria Di Leo +81 more
2024Nature Genetics21 citations Open access
Semantic Scholar
Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.
K. Myers, S. White, S. Mohammed, K. Metcalfe +5 more
2018Epilepsy Research19 citations Open access
Semantic Scholar
The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility*
Katie A. Mitzelfelt, P. Limphong, Melinda J. Choi, Frances D. L. Kondrat +20 more
2016Journal of Biological Chemistry19 citations Open access
Semantic Scholar
Genetic neuropathies presenting with CIDP-like features in childhood.
M. Fernández-García, G. Stettner, M. Kinali, A. Clarke +4 more
2020Neuromuscular Disorders18 citations
Semantic Scholar
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy
A. Sarkozy, S. Torelli, R. Mein, M. Henderson +28 more
2018Journal of Neurology Neurosurgery & Psychiatry18 citations Open access
Semantic Scholar
Homozygous variegate porphyria presenting with developmental and language delay in childhood
V. Pinder, S. Holden, C. Deshpande, A. Siddiqui +3 more
2013Clincal and Experimental Dermatology18 citations
Semantic Scholar
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations.
K. Forrest, S. Al-Sarraj, C. Sewry, S. Buk +13 more
2011Neuromuscular Disorders16 citations Open access
Semantic Scholar
Congenital lower brachial plexus palsy due to cervical ribs
A. Desurkar, K. Mills, M. Pitt, W. Jan +3 more
2011Developmental Medicine & Child Neurology16 citations
Semantic Scholar
Surgery for scoliosis in Duchenne muscular dystrophy.
D. Cheuk, V. Wong, E. Wraige, P. Baxter +1 more
2015Cochrane Database of Systematic Reviews14 citations Open access
Semantic Scholar
Management and outcomes of cochlear implantation in patients with congenital cytomegalovirus (cCMV)-related deafness
A. Hoey, I. Pai, S. Driver, S. Connor +2 more
2017Cochlear Implants International13 citations
Semantic Scholar
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy
A. Sarkozy, M. Sa, D. Ridout, M. Fernández-García +15 more
2023Neurology12 citations Open access
Semantic Scholar
Self-reported needs after pediatric stroke.
A. Gordon, Loan Nguyen, Anna Panton, A. Mallick +3 more
2018European journal of paediatric neurology12 citations Open access
Semantic Scholar
Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations
S. V. Tan, E. Wraige, K. Lascelles, H. Bostock
2013Developmental Medicine & Child Neurology12 citations Open access
Semantic Scholar
Beneficial use of steroids in hereditary neuropathy with liability to pressure palsy
H. S. Heng, Shan S. Tang, S. Goyal, E. Wraige +1 more
2012Developmental Medicine & Child Neurology12 citations
Semantic Scholar
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain
N. Cornell, Anne-Marie Childs, E. Wraige, P. Munot +11 more
2024Journal of Neuromuscular Diseases10 citations Open access
Semantic Scholar
Observation cohort study of cause of death in patients with Duchenne muscular dystrophy (DMD)
E. Ballard, N. Grey, H. Jungbluth, E. Wraige +4 more
20129 citations
Semantic Scholar
Risk-benefit profile of onasemnogene abeparvovec in older and heavier children with spinal muscular atrophy type 1.
R. Finnegan, A. Manzur, P. Munot, Anil Dhawan +10 more
2024Neuromuscular Disorders8 citations
Semantic Scholar
Spinal presentations in children with spinal muscular atrophy type 1 following gene therapy treatment with onasemnogene abeparvovec - The SMA REACH UK network experience.
A. Wolfe, J. Sheehan, Alex Schofield, Helen Cranney +9 more
2024Neuromuscular Disorders6 citations
Semantic Scholar
Unusual Presentations of Dystrophinopathies in Childhood
N. Allen, A. Ewer, V. Nakou, E. Konstantoulaki +3 more
2018Pediatrics6 citations Open access
Semantic Scholar
Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia
N. Allen, H. Dafsari, E. Wraige, H. Jungbluth
2018Journal of Child Neurology6 citations
Semantic Scholar

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H. Jungbluth×17
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H. Jungbluth — researcher profile on SciRah
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A. Manzur×8
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M. Scoto — researcher profile on SciRah

G. Baranello×6

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G. Baranello — researcher profile on SciRah

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A. Mallick — researcher profile on SciRah