Ruler visibility and popular belonging in the Ottoman Empire, 1808-1908 / Darin N. Stephanov. [elektronicky zdroj]

Autor: Stephanov, Darin N., author

Externí odkaz: Kolekce e-knih KNAV

Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease

Autor: Savvidou, A., Jennions, E., Wikström, S., Olsson-Engman, M., Sofou, K., Darin, N.

Publikováno v: In European Journal of Paediatric Neurology July 2022 39:74-78

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Renal Phenotype in Mitochondrial Diseases : A Multicenter Study

Autor: Parasyri, M. (Maria), Brandström, P. (Per), Uusimaa, J. (Johanna), Ostergaard, E. (Elsebet), Hikmat, O. (Omar), Isohanni, P. (Pirjo), Naess, K. (Karin), de Coo, I. F. (I. F. M.), Osorio, A. N. (Andrés Nascimento), Nuutinen, M. (Matti), Lindberg, C. (Christopher), Bindoff, L. A. (Laurence A.), Tulinius, M. (Már), Darin, N. (Niklas), Sofou, K. (Kalliopi)

Publikováno v: Kidney Diseases
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Kidney Dis (Basel)
Kidney Diseases, 8(2). Karger
Kidney Diseases, Vol 8, Iss 2, Pp 137-148 (2022)
Parasyri, M, Brandstroem, P, Uusimaa, J, Ostergaard, E, Hikmat, O, Isohanni, P, Naess, K, de Coo, I F M, Nascimento Osorio, A, Nuutinen, M, Lindberg, C, Bindoff, L A, Tulinius, M, Darin, N & Sofou, K 2022, ' Renal Phenotype in Mitochondrial Diseases : A Multicenter Study ', Kidney diseases, vol. 8, no. 2 . https://doi.org/10.1159/000521148

Aims: This study aimed to investigate associations between renal and extrarenal manifestations of mitochondrial diseases and their natural history as well as predictors of renal disease severity and overall disease outcome. The secondary aim was to g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf62cea4dd14b8070a3ded438b112356
http://hdl.handle.net/10138/353736

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

Autor: Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp

Publikováno v: Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c9c74216e66383cd737eb4c0124148
https://doi.org/10.1212/wnl.0000000000006245