Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Pattni, J."'
Autor:
Vivekanandam, V, Männikkö, R, Skorupinska, I, Germain, L, Gray, B, Wedderburn, S, Kozyra, D, Sud, R, James, N, Holmes, S, Savvatis, K, Fialho, D, Merve, A, Pattni, J, Farrugia, M, Behr, ER, Marini-Bettolo, C, Hanna, MG, Matthews, E
Andersen Tawil Syndrome (ATS) is a neurological channelopathy caused by mutations in the KCNJ2 gene that encodes the ubiquitously expressed Kir2.1 potassium channel. The syndrome is characterised by episodic weakness, cardiac arrythmias and dysmorphi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::669d9a7a88132b38d6ed0a0e62dc137e
https://openaccess.sgul.ac.uk/id/eprint/113976/1/awab445.pdf
https://openaccess.sgul.ac.uk/id/eprint/113976/1/awab445.pdf
Autor:
Bouquillon, L.1 (AUTHOR), Pattni, J.1 (AUTHOR), Bindman, D.1 (AUTHOR), Geagan, C.2 (AUTHOR), Conn, R.3 (AUTHOR), McDonald, R.1 (AUTHOR), Turner, C.2 (AUTHOR), Rodney, S.4 (AUTHOR), Johnson, A.5 (AUTHOR), Guglieri, M.2 (AUTHOR), Straub, V.2 (AUTHOR), Quinlivan, R.1 (AUTHOR)
Publikováno v:
Neuromuscular Disorders. 2024 Supplement 1, Vol. 43, pN.PAG-N.PAG. 1p.
Akademický článek
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Autor:
Quinlivan, Ros, Pietrusz, A., Pizzamiglio, Chiara, Pattni, J., Mahroo, O., Khan, K., Elliott, P., Patasin, M., Lucía Mulas, Alejandro, Godfrey, R.
Publikováno v:
ABACUS. Repositorio de Producción Científica
Universidad Europea (UEM)
Universidad Europea (UEM)
McArdle disease is caused by recessive mutations in the gene encoding muscle glycogen phosphorylase (MGP) which results in enzyme deficiency. The condition is considered to cause a 'pure' muscle phenotype with symptoms including: exercise intolerance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1c7e53e275fe3ecbb66ff74ce72b2bb5
http://hdl.handle.net/11268/8885
http://hdl.handle.net/11268/8885
Publikováno v:
In Physiotherapy December 2021 113 Supplement 1:e98-e99
Autor:
Scalco, R., Manole, A., Chatfield, S., Booth, S., Wigley, R., Pattni, J., Michalak, Z., Desikan, M., Godfrey, R., Houlden, H., Murphy, E., Quinlivan, R.
Publikováno v:
In Neuromuscular Disorders October 2017 27 Supplement 2:S207-S207
P.113 - Referrals to psychology within a neuromuscular service: what do patients want to talk about?
Publikováno v:
In Neuromuscular Disorders October 2017 27 Supplement 2:S131-S131
Publikováno v:
In Neuromuscular Disorders October 2017 27 Supplement 2:S116-S116
Autor:
Godfrey, R., Scalco, R., Booth, S., Ellerton, C., Kahraman, A., Chatfield, S., Desikan, M., Carruthers, R., Wakelin, A., Pattni, J., Quinlivan, R.
Publikováno v:
In Neuromuscular Disorders October 2016 26 Supplement 2:S198-S198
Autor:
Scalco, R. *, Vissing, C., Godfrey, R., Chatfield, S., Løkken, N., Madsen, K., Pattni, J., Michalak, Z., Sewry, C., Fox, Z., McKenna, G., Samandouras, G., Holton, J., Howell, J., Haller, R., Vissing, J., Quinlivan, R.
Publikováno v:
In Neuromuscular Disorders October 2015 25 Supplement 2:S220-S221