Expression clinique des porteuses symptomatiques de mutations du gè ; ne EMD. A propos de 4 cas

Autor: Ben Yaou, R, Llense, S, Deburgrave, N, Peccate, C, Canki-Klain, Nina, Amsallem, D : Journel, H, Laforet, P, Kaplan, JC, Leturcq, F, Recan, D

Objectifs : Les mutations du gè ; ne EMD, codant l’ émerine, sont responsables de la forme liée à ; l’ X de la Dystrophie musculaire d’ Emery-Dreifuss (X-EDMD), caractérisée par une faiblesse et amyotrophie huméro-péroni&egrav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::34db64a9917ed7cdaa81f2d8f28c74de
https://www.bib.irb.hr/180443

82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies)

Autor: Bonne G., Capeau J., De Visser M., Duboc D., Merlini L., Morris G.E., Muntoni F., Recan D., Sewry C., Squarzoni S., Stewart C., Talim B., Van Der Kooi A., Worman H., Schwartz K.

Publikováno v: Neuromuscular disorders 12 (2002): 187–194.
info:cnr-pdr/source/autori:Bonne G., Capeau J., De Visser M., Duboc D., Merlini L., Morris G.E., Muntoni F., Recan D., Sewry C., Squarzoni S., Stewart C., Talim B., Van Der Kooi A., Worman H., Schwartz K./titolo:82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies)/doi:/rivista:Neuromuscular disorders/anno:2002/pagina_da:187/pagina_a:194/intervallo_pagine:187–194/volume:12

Questo è un lavoro del gruppo denominato EUROMEN (European muscle envelope nucleopathies) che è parte del progetto Myo-Cluster finanziato dalla comunità Europea (QLG1-CT-1999-00870) e di cui lo IOR è il centro di coordinamento e il Dr. Luciano ME

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::cf5aca045c4f022cb8bde5f10f8226c3
https://publications.cnr.it/doc/5059

Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations

Autor: Plassart, E., Reboul, J., Recan, D., Millasseau, P., Eymard, B., Pelletier, J., Thomas, C., Chapon, F., Desnuelle, C., Confavreux, C., Bady, B., Martin, Jean-Jacques, Lenoir, G., Serratrice, G., Fardeau, M., Fontaine, Bertrand

Publikováno v: European journal of human genetics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2097::0fe75d0979864cf321de08e134267d94
https://hdl.handle.net/10067/97280151162165141

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.