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Featured researches published by R. Godfrey.


Neuromuscular Disorders | 2014

T.P.26

R. Scalco; S. Chatfield; J. Pattni; C. Ellerton; A. Beggs; R. Godfrey; Janice L. Holton; R. Quinlivan

McArdle disease is a rare condition and often people have had symptoms for many years before the diagnosis is made. There is no specific treatment for the condition but early diagnosis and appropriate management may improve exercise tolerance and prevent acute rhabdomyolysis. Here we present a patient with McArdle disease where an acute episode of neck muscle contracture causing nuchal rigidity was misdiagnosed as meningitis. The patient went onto develop an acute allergic reaction to systemic penicillin with potential life-threatening complications. The patient’s neck contracture was induced by dental extraction during which she was required to hold her mouth open and neck rigid for a prolonged time. This case illustrates that contracture in McArdle disease does not necessarily follow ’exercise’ and highlights the need for careful management during procedures.


Arquivos De Neuro-psiquiatria | 2014

From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease

R. Scalco; S. Chatfield; R. Godfrey; J. Pattni; C. Ellerton; Andrea Beggs; Stefen Brady; Andrew Wakelin; Janice L. Holton; R. Quinlivan


Neuromuscular Disorders | 2017

Misdiagnosis is an important factor for diagnostic delay in McArdle disease

R. Scalco; Jasper M. Morrow; S. Booth; S. Chatfield; R. Godfrey; R. Quinlivan


Neuromuscular Disorders | 2018

Evaluating the 12-minute walk test in McArdle disease

S. Chatfield; S. Booth; R. Godfrey; J. Pattni; R. Scalco; R. Quinlivan


Presented at: International ACPIN Conference, London. (2017) | 2017

Evaluating the 12 minute walk test in McArdle disease: preliminary results

S. Chatfield; S. Booth; R. Godfrey; J. Pattni; R. Scalco; R. Quinlivan


Neuromuscular Disorders | 2017

P.370 - Exercise profile in patients with SLC2A9 homozygous mutation and a history of exercise induced kidney failure

R. Scalco; A. Manole; S. Chatfield; S. Booth; R. Wigley; J. Pattni; Z. Michalak; M. Desikan; R. Godfrey; Henry Houlden; Elaine Murphy; R. Quinlivan


Neuromuscular Disorders | 2017

P.360 - Misdiagnosis and diagnostic delay in McArdle disease

R. Scalco; Jasper M. Morrow; S. Booth; S. Chatfield; R. Godfrey; R. Quinlivan


Neuromuscular Disorders | 2017

P.359 - Different kinetic profiles of 2 patients presenting with muscle b-enolase deficiency

R. Wigley; R. Scalco; A Gardiner; S. Booth; S. Chatfield; R. Godfrey; M. Desikan; R. Kirk; David Hilton-Jones; Henry Houlden; R. Quinlivan


Neuromuscular Disorders | 2016

Effect of a multi-disciplinary approach to diagnosis and management for non-lysosomal skeletal muscle glycogen storage disorders

R. Godfrey; R. Scalco; S. Booth; C. Ellerton; A. Kahraman; S. Chatfield; M. Desikan; R. Carruthers; Andrew Wakelin; J. Pattni; R. Quinlivan


European Journal of Neurology , 23 (S2) p. 689. (2016) | 2016

Muscle b-enolase deficiency presenting with different kinetic profiles in muscle tissue

R Wigley; R. Scalco; A Gardiner; S. Booth; S. Chatfield; R. Godfrey; R Kirk; David Hilton-Jones; Henry Houlden; R. Quinlivan

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R. Quinlivan

University College London

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R. Scalco

University College London

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S. Chatfield

University College London

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J. Pattni

University College London

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S. Booth

University College London

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C. Ellerton

University College London

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Janice L. Holton

UCL Institute of Neurology

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Henry Houlden

UCL Institute of Neurology

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A Gardiner

University College London

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Andrea Beggs

University College London

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