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Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.
Published in:
Human Genetics, 2011, v. 129, n. 2, p. 149, doi. 10.1007/s00439-010-0909-1
By:
- Granger, B.;
- Gueneau, L.;
- Drouin-Garraud, V.;
- Pedergnana, V.;
- Gagnon, F.;
- Ben Yaou, R.;
- Tezenas du Montcel, S.;
- Bonne, G.
Publication type:
Article
Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).
Published in:
2022
By:
- Mosbah, H.;
- Donadille, B.;
- Vatier, C.;
- Janmaat, S.;
- Atlan, M.;
- Badens, C.;
- Barat, P.;
- Béliard, S.;
- Beltrand, J.;
- Ben Yaou, R.;
- Bismuth, E.;
- Boccara, F.;
- Cariou, B.;
- Chaouat, M.;
- Charriot, G.;
- Christin-Maitre, S.;
- De Kerdanet, M.;
- Delemer, B.;
- Disse, E.;
- Dubois, N.
Publication type:
journal article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article
Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 5, p. 1260, doi. 10.1093/brain/awl062
By:
- F. Muntoni;
- G. Bonne;
- L. G. Goldfarb;
- E. Mercuri;
- R. J. Piercy;
- M. Burke;
- R. Ben Yaou;
- P. Richard;
- D. Récan;
- A. Shatunov;
- C. A. Sewry;
- S. C. Brown
Publication type:
Article

Found: 4

Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy.

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.