Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes (Nature Genetics, (2020), 52, 5, (473-481), 10.1038/s41588-020-0615-4)

Autor: Cortese A., Zhu Y., Rebelo A. P., Negri S., Courel S., Abreu L., Bacon C. J., Bai Y., Bis-Brewer D. M., Bugiardini E., Buglo E., Danzi M. C., Feely S. M. E., Athanasiou-Fragkouli A., Haridy N. A., Rodriguez A., Bacha A., Kosikowski A., Wood B., McCray B., Blume B., Siskind C., Sumner C., Calabrese D., Walk D., Vujovic D., Park E., Muntoni F., Donlevy G., Acsadi G., Day J., Burns J., Li J., Krajewski K., Eichinger K., Cornett K., Mullen K., Laura P. Q., Gutmann L., Barrett M., Saporta M., Skorupinska M., Grant N., Bray P., Seyedsadjadi R., Zuccarino R., Finkel R., Lewis R., Yum S., Hilbert S., Thomas S., Behrens-Spraggins S., Jones T., Lloyd T., Grider T., Estilow T., Fridman V., Isasi R., Khan A., Laura M., Magri S., Pipis M., Pisciotta C., Powell E., Rossor A. M., Saveri P., Sowden J. E., Tozza S., Vandrovcova J., Dallman J., Grignani E., Marchioni E., Scherer S. S., Tang B., Lin Z., Al-Ajmi A., Schule R., Synofzik M., Maisonobe T., Stojkovic T., Auer-Grumbach M., Abdelhamed M. A., Hamed S. A., Zhang R., Manganelli F., Santoro L., Taroni F., Pareyson D., Houlden H., Herrmann D. N., Reilly M. M., Shy M. E., Zhai R. G., Zuchner S.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::fa2f2639bada99e106229ff5b044a7c0
http://hdl.handle.net/11588/808647

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

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

Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients

Autor: Mannil, M., Solari, A., Leha, A., Pelayo-Negro, A. L., Berciano, J., Schlotter-Weigel, B., Walter, M. C., Rautenstrauss, B., Schnizer, T. J., Schenone, A., Seeman, P., Kadian, C., Schreiber, O., Angarita, N. G., Fabrizi, G. M., Gemignani, F., Padua, L., Santoro, L., Quattrone, A., Vita, G., Calabrese, D., Marchesi, C., Salsano, E., Nanetti, L., Marelli, C., Scaioli, V., Ciano, C., Rimoldi, M., Lauria, G., Rizzetto, E., Camozzi, F., Narciso, E., Grandis, M., Monti-Bragadin, M., Nobbio, L., Cavallaro, T., Casano, A., Bertolasi, L., Cabrini, I., Corra, K., Manganelli, F., Pisciotta, C., Nolano, M., Mazzeo, A., Aguennouz, M., Di Leo, R., Majorana, G., Lanzano, N., Valenti, F., Valentino, P., Nistico, R., Pirritano, D., Lucisano, A., Canino, M., Pazzaglia, C., Granata, G., Foschini, M., Brindani, F., Vitetta, F., Allegri, I., Visioli, F., Bogani, P., Blake, J., Koltzenburg, M., Hutton, E., Lunn, M., Young, P., Laura, M., Haberlova, J., Mazanec, R., Paulus, W., Beissbarth, T., Shy, M. E., Reilly, M. M., Pareyson, D., Sereda, M. W.

Publikováno v: Neuromuscular disorders 24 (2014): 1003–1017. doi:10.1016/j.nmd.2014.06.431
info:cnr-pdr/source/autori:Mannil, Manoj; Solari, Alessandra; Leha, Andreas; Pelayo-Negro, Ana L.; Berciano, Jose; Schlotter-Weigel, Beate; Walter, Maggie C.; Rautenstrauss, Bernd; Schnizer, Tuuli J.; Schenone, Angelo; Seeman, Pavel; Kadian, Chandini; Schreiber, Olivia; Angarita, Natalia G.; Fabrizi, Gian Maria; Gemignani, Franco; Padua, Luca; Santoro, Lucio; Quattrone, Aldo; Vita, Giuseppe; Calabrese, Daniela; Young, Peter; Laura, Matilde; Haberlova, Jana; Mazanec, Radim; Paulus, Walter; Beissbarth, Tim; Shy, Michael E.; Reilly, Mary M.; Pareyson, Davide; Sereda, Michael W./titolo:Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients/doi:10.1016%2Fj.nmd.2014.06.431/rivista:Neuromuscular disorders/anno:2014/pagina_da:1003/pagina_a:1017/intervallo_pagine:1003–1017/volume:24

This study evaluates primary and secondary clinical outcome measures in Charcot-Marie-Tooth disease type 1A (CMT1A) with regard to their contribution towards discrimination of disease severity. The nine components of the composite Charcot-Marie-Tooth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeda0250e6c2131c9873e1f957a473d4
http://hdl.handle.net/10807/62378

Cellular and molecular differences between early and late onset myelin protein zero mutations

Autor: Grandis, Marina, Vigo, Tiziana, Jain, M., La Padula, V., Scazzola, S., Passalacqua, Mario, Benvenuto, F., Kamholz, J., Shy, M. E., Schenone, Angelo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3710::b315d7157f14cfc0b2cfa105be498fd5
http://hdl.handle.net/11567/299343