Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

Autor: Matthews, E, Neuwirth, C, Jaffer, F, Scalco, RS, Fialho, D, Parton, M, Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, JL, Jungbluth, H, Hanna, MG

Publikováno v: Matthews, E, Neuwirth, C, Jaffer, F, Scalco, R S, Fialho, D, Parton, M, Raja Rayan, D, Suetterlin, K, Sud, R, Spiegel, R, Mein, R, Houlden, H, Schaefer, A, Healy, E, Palace, J, Quinlivan, R, Treves, S, Holton, J L, Jungbluth, H & Hanna, M G 2018, ' Atypical periodic paralysis and myalgia : A novel RYR1 phenotype ', Neurology, vol. 90, no. 5, pp. e1-e7 . https://doi.org/10.1212/WNL.0000000000004894

OBJECTIVE: To characterize the phenotype of patients with symptoms of periodic paralysis (PP) and ryanodine receptor (RYR1) gene mutations.METHODS: Cases with a possible diagnosis of PP but additional clinicopathologic findings previously associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::52310ab2fbe85b5f04084c81b7647c3f
http://ora.ox.ac.uk/objects/uuid:

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of Congenital Muscular Dystrophies: Analysis of the UK diagnostic service 2001-2013

Autor: Sframeli, Maria, Sarkozy, A., Astrea, G., Scoto, M., Feng, L., Mein, R., Yau, M., Phadke, R., Sewry, C., Messina, Sonia, Robb, S., Muntoni, F. .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3978::c4a29c446b7d522683cda771580e4766
http://hdl.handle.net/11570/3095880

1167 - Genotyping in cystinuria - do first degree relatives share a similar phenotype?

Autor: Kum, F., Wong, K., Mein, R., Bultitude, M., Thomas, K.

Publikováno v: In European Urology Supplements March 2018 17(2):e1641-e1641