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Author/Creator Merlini, L

2. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery–Dreifuss muscular dystrophy. Issue 3 (2nd March 2005)

Authors:
Cenni, V; Sabatelli, P; Mattioli, E; Marmiroli, S; Capanni, C; Ognibene, A; Squarzoni, S; Maraldi, N M; Bonne, G; Columbaro, M; Merlini, L; Lattanzi, G
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 3(2005)
Page Start:
214
Record Type:
Journal Article
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3. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. Issue 12 (18th December 2003)

Authors:
Vytopil, M; Benedetti, S; Ricci, E; Galluzzi, G; Dello Russo, A; Merlini, L; Boriani, G; Gallina, M; Morandi, L; Politano, L; Moggio, M; Chiveri, L; Hausmanova-Petrusewicz, I; Ricotti, R; Vohanka, S; Toman, J; Toniolo, D
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 12(2003)
Page Start:
e132
Record Type:
Journal Article
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4. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Issue 6 (June 1997)

Authors:
Carrié, A; Piccolo, F; Leturcq, F; de Toma, C; Azibi, K; Beldjord, C; Vallat, J M; Merlini, L; Voit, T; Sewry, C; Urtizberea, J A; Romero, N; Tomé, F M; Fardeau, M; Sunada, Y; Campbell, K P; Kaplan, J C; Jeanpierre, M
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 6(1997)
Page Start:
470
Record Type:
Journal Article
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6. PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy. Issue 3 (March 1998)

Authors:
Guicheney, P; Vignier, N; Zhang, X; He, Y; Cruaud, C; Frey, V; Helbling-Leclerc, A; Richard, P; Estournet, B; Merlini, L; Topaloglu, H; Mora, M; Harpey, J P; Haenggeli, C A; Barois, A; Hainque, B; Schwartz, K; Tomé, F M; Fardeau, M; Tryggvason, K
Journal:
Journal of medical genetics
Issue:
Volume 35:Issue 3(1998)
Page Start:
211
Record Type:
Journal Article
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7. POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome. Issue 12 (13th May 2005)

Authors:
van Reeuwijk, J; Janssen, M; van den Elzen, C; Beltran-Valero de Bernabé, D; Sabatelli, P; Merlini, L; Boon, M; Scheffer, H; Brockington, M; Muntoni, F; Huynen, M A; Verrips, A; Walsh, C A; Barth, P G; Brunner, H G; van Bokhoven, H
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 12(2005)
Page Start:
907
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗