P.47 Adaptive test for neuromuscular disorders: Design of a wheelchair-based assessment

Autor: T. Duong, W. Tang, L. Nelson, D. Parker, A. Pasternak, S. Dunaway Young, R. Muni-Lofra, E. Maczek, J. Michell-Sodhi, D. Moat, S. Chatfield, P. Appleton, J. Day, A. Glanzman, A. Mayhew

Publikováno v: Neuromuscular Disorders. 32:S61

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::eae535e747640c501daa60afc5152950
https://doi.org/10.1016/j.nmd.2022.07.083

Reference values for the 12 minute walk test in McArdle patients

Autor: Richard Godfrey, J. Pattni, S. Booth, Rosaline Quinlivan, S. Chatfield

Publikováno v: Neuromuscular disorders : NMD. 30(10)

The maximum distance achieved on a modified 12 min walk test (12MWT) is a well-established measure in McArdle disease glycogen storage disease type V (GSDV). Age, height, body mass and gender are known predictors of walking distance in other patient

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fce5068e67dfefd264ce1467d5baa5d0
https://pubmed.ncbi.nlm.nih.gov/32962872

P.117Rhabdomyolysis due to unaccustomed exercise: experiences from a multidisciplinary clinic

Autor: Rosaline Quinlivan, J. Pattni, S. Chatfield, Richard Godfrey

Publikováno v: Neuromuscular Disorders. 29:S82-S83

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2051feabcdd8b4cf497f736bf9809298
https://doi.org/10.1016/j.nmd.2019.06.173

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

Autor: Stefen Brady, Andrea Beggs, Janice L. Holton, C. Ellerton, J. Pattni, Renata S Scalco, R. Godfrey, S. Chatfield, A. Wakelin, Ros Quinlivan

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 72, Iss 7, Pp 538-541 (2014)
Arquivos de Neuro-Psiquiatria, Volume: 72, Issue: 7, Pages: 538-541, Published: JUL 2014
Arquivos de Neuro-Psiquiatria v.72 n.7 2014
Arquivos de neuro-psiquiatria
Academia Brasileira de Neurologia
instacron:ABNEURO

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to ‘growing pains’ and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa54269e729827fb8f2de05eca524c1b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2014000700538&lng=en&tlng=en

P.124Is the expression of muscle glycogen phosphorylase tissue-specific? New perspectives on McArdle disease

Autor: C. Chiara Pizzamiglio, Alazne Arrazola Sastre, José L. Zugaza, J. Pattni, R. Renata Scalco, Miriam Luque Montoro, F. Francisco Llavero Bernal, Alejandro Lucía, R. Quinlivan, Miguel Martín, Joaquín Arenas, S. Chatfield

Publikováno v: Neuromuscular Disorders. 29:S84

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::bfdecbcece84fc698faf2917b372fdcc
https://doi.org/10.1016/j.nmd.2019.06.180