Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Llense, Stephane"'
Autor:
Béroud, Christophe, Carrié, Alain, Beldjord, Chérif, Deburgrave, Nathalie, Llense, Stéphane, Carelle, Nadège, Peccate, Cécile, Cuisset, Jean-Marie, Pandit, Florence, Carré-Pigeon, Frédérique, Mayer, Michèle, Bellance, Rémi, Récan, Dominique, Chelly, Jamel, Kaplan, Jean-Claude, Leturcq, France ∗
Publikováno v:
In Neuromuscular Disorders 2004 14(1):10-18
Autor:
Canki-Klain, Nina, Llense, Stephane, Miličić, Davor, Richard, P., Niel, F., Leturcq, France, Deburgrave, N., Demay, L., Kaplan, J-C., Zurak, Niko, Bonne, G., Recan, D.
Emery-Dreifuss muscular dystrophies are characterized by early contractures, late humero-peroneal dystrophy and dilated cardiopathy with severe conduction defects leading to sudden death. They are caused by mutations affecting either the STA gene, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::c56cfa4c52d4e0fef1a551f1f71a7d5f
https://www.bib.irb.hr/106160
https://www.bib.irb.hr/106160
Autor:
Canki-Klain, Nina, Recan, Dominique, Miličić, Davor, Llense, Stephane, Leturcq, France, Deburgrave, Nathalie, Kaplan, Jean-Claude, Debevec, Marija, Zurak, Niko
Aim. To describe the clinical variability of X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) with cardiac involvement in a four-generation family with a novel mutation in STA gene. Methods. Clinical data were provided for 4 affected males and fem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::0cd1d8f534d35e1443c8c73effc861d8
https://www.bib.irb.hr/64816
https://www.bib.irb.hr/64816
Autor:
Canki-Klain, Nina, Miličić, Davor, Hećimović, Silva, Tanačković, Goranka, Récan, Dominique, Llense, Stephane, Barbot, Jean-Claude, Leturcq, F., Kaplan, Jean-Claude, Šoštarko, Marija, Mitrović, Zoran, Pažanin, Leo, Turčić, Josip, Sertić, Jadranka, Barišić, Nina, Čulić, Vida, Bauer, Vladimir, Žagar, Marija, Zurak, Niko
Accurate genetic counseling and the advent of possible treatment of some muscular dystrophies urgently need the exact diagnosis. Our usual approach to DMD/BMD diagnosis is based primarily on clinical, laboratory, genealogical, and multiplex PCR. Usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::4363d6584b0b85483763ac708f94ee13
https://www.bib.irb.hr/70012
https://www.bib.irb.hr/70012
Akademický článek
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Autor:
Romero, Norma Beatriz *, De Lonlay, Pascale, Llense, Stéphane, Leturcq, France, Touati, Guy, Urtizberea, J-Andoni, Saudubray, Jean Marie, Munnich, Arnold, Kaplan, Jean Claude, Récan, Dominique
Publikováno v:
In Neuromuscular Disorders 2001 11(5):494-498
Autor:
Muntoni, Francesco a, *, Lichtarowicz-Krynska, Ewa J a, Sewry, Caroline A a, b, Manilal, Sushila c, Recan, Dominique d, Llense, Stephane d, Jacqueline Taylor a, Morris, Glenn E c, Dubowitz, Victor a
Publikováno v:
In Neuromuscular Disorders 1998 8(2):72-76
Autor:
Romero, Norma Beatriz a, *, Récan, Dominique b, Rigal, Odile c, Leturcq, France b, Llense, Stéphane b, Barbot, Jean-Claude b, Deburgrave, Nathalie b, Cheval, Marie Armelle a, Deniau, Françoise d, Kaplan, Jean-Claude b
Publikováno v:
In Neuromuscular Disorders 1997 7(8):499-504