Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy.

Helbling-Leclerc, A; Zhang, X; Topaloglu, H; Cruaud, C; Tesson, F; Weissenbach, J; Tomé, F M; Schwartz, K; Fardeau, M; Tryggvason, K.

Nat Genet ; 11(2): 216-8, 1995 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-7550355

2.

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy.

Brais, B; Bouchard, J P; Xie, Y G; Rochefort, D L; Chrétien, N; Tomé, F M; Lafrenière, R G; Rommens, J M; Uyama, E; Nohira, O; Blumen, S; Korczyn, A D; Heutink, P; Mathieu, J; Duranceau, A; Codère, F; Fardeau, M; Rouleau, G A; Korcyn, A D.

Nat Genet ; 18(2): 164-7, 1998 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-9462747

3.

Absence of extraocular muscle pathology in Duchenne's muscular dystrophy: role for calcium homeostasis in extraocular muscle sparing.

Khurana, T S; Prendergast, R A; Alameddine, H S; Tomé, F M; Fardeau, M; Arahata, K; Sugita, H; Kunkel, L M.

J Exp Med ; 182(2): 467-75, 1995 Aug 01.

Artigo em Inglês | MEDLINE | ID: mdl-7629506

4.

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

Matsumura, K; Tomé, F M; Ionasescu, V; Ervasti, J M; Anderson, R D; Romero, N B; Simon, D; Récan, D; Kaplan, J C; Fardeau, M.

J Clin Invest ; 92(2): 866-71, 1993 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-8349821

5.

Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophin.

Matsumura, K; Burghes, A H; Mora, M; Tomé, F M; Morandi, L; Cornello, F; Leturcq, F; Jeanpierre, M; Kaplan, J C; Reinert, P.

J Clin Invest ; 93(1): 99-105, 1994 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-8282827

6.

A homologue of dystrophin is expressed at the neuromuscular junctions of normal individuals and DMD patients, and of normal and mdx mice. Immunological evidence.

Pons, F; Augier, N; Léger, J O; Robert, A; Tomé, F M; Fardeau, M; Voit, T; Nicholson, L V; Mornet, D; Léger, J J.

FEBS Lett ; 282(1): 161-5, 1991 Apr 22.

Artigo em Inglês | MEDLINE | ID: mdl-1709117

7.

Expression of utrophin and its mRNA in denervated mdx mouse muscle.

Jasmin, B J; Alameddine, H; Lunde, J A; Stetzkowski-Marden, F; Collin, H; Tinsley, J M; Davies, K E; Tomé, F M; Parry, D J; Cartaud, J.

FEBS Lett ; 374(3): 393-8, 1995 Nov 06.

Artigo em Inglês | MEDLINE | ID: mdl-7589578

8.

Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12.

Jung, D; Leturcq, F; Sunada, Y; Duclos, F; Tomé, F M; Moomaw, C; Merlini, L; Azibi, K; Chaouch, M; Slaughter, C; Fardeau, M; Kaplan, J C; Campbell, K P.

FEBS Lett ; 381(1-2): 15-20, 1996 Feb 26.

Artigo em Inglês | MEDLINE | ID: mdl-8641426

9.

Familial fingerprint body myopathy.

Fardeau, M; Tomé, F M; Derambure, S.

Arch Neurol ; 33(10): 724-5, 1976 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-184767

10.

Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy.

Tomé, F M; Askanas, V; Engel, W K; Alvarez, R B; Lee, C S.

Neurology ; 39(7): 926-32, 1989 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-2544827

11.

Oculopharyngeal muscular dystrophy in two unrelated Japanese families.

Uyama, E; Nohira, O; Chateau, D; Tokunaga, M; Uchino, M; Okabe, T; Ando, M; Tome, F M.

Neurology ; 46(3): 773-8, 1996 Mar.

Artigo em Inglês | MEDLINE | ID: mdl-8618681

12.

Intranuclear inclusions in oculopharyngeal muscular dystrophy among Bukhara Jews.

Blumen, S C; Sadeh, M; Korczyn, A D; Rouche, A; Nisipeanu, P; Asherov, A; Tomé, F M.

Neurology ; 46(5): 1324-8, 1996 May.

Artigo em Inglês | MEDLINE | ID: mdl-8628475

13.

Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene.

Blumen, S C; Korczyn, A D; Lavoie, H; Medynski, S; Chapman, J; Asherov, A; Nisipeanu, P; Inzelberg, R; Carasso, R L; Bouchard, J P; Tomé, F M; Rouleau, G A; Brais, B.

Neurology ; 55(9): 1267-70, 2000 Nov 14.

Artigo em Inglês | MEDLINE | ID: mdl-11087766

14.

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study.

He, Y; Jones, K J; Vignier, N; Morgan, G; Chevallay, M; Barois, A; Estournet-Mathiaud, B; Hori, H; Mizuta, T; Tomé, F M; North, K N; Guicheney, P.

Neurology ; 57(7): 1319-22, 2001 Oct 09.

Artigo em Inglês | MEDLINE | ID: mdl-11591858

15.

Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy.

Eymard, B; Romero, N B; Leturcq, F; Piccolo, F; Carrié, A; Jeanpierre, M; Collin, H; Deburgrave, N; Azibi, K; Chaouch, M; Merlini, L; Thémar-Noël, C; Penisson, I; Mayer, M; Tanguy, O; Campbell, K P; Kaplan, J C; Tomé, F M; Fardeau, M.

Neurology ; 48(5): 1227-34, 1997 May.

Artigo em Inglês | MEDLINE | ID: mdl-9153448

16.

Oculopharyngeal muscular dystrophy in France.

Fardeau, M; Tomé, F M.

Neuromuscul Disord ; 7 Suppl 1: S30-3, 1997 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-9392012

17.

Ubiquitin and beta-amyloid-protein in inclusion body myositis (IBM), familial IBM-like disorder and oculopharyngeal muscular dystrophy: an immunocytochemical study.

Leclerc, A; Tomé, F M; Fardeau, M.

Neuromuscul Disord ; 3(4): 283-91, 1993 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-8268725

18.

Morphological changes in muscle fibers in oculopharyngeal muscular dystrophy.

Tomé, F M; Chateau, D; Helbling-Leclerc, A; Fardeau, M.

Neuromuscul Disord ; 7 Suppl 1: S63-9, 1997 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-9392019

19.

Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy.

Uyama, E; Uchino, M; Chateau, D; Tomé, F M.

Neuromuscul Disord ; 8(2): 119-25, 1998 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-9608566

20.

Expression of dystrophin-associated glycoproteins during human fetal muscle development: a preliminary immunocytochemical study.

Tomé, F M; Matsumura, K; Chevallay, M; Campbell, K P; Fardeau, M.

Neuromuscul Disord ; 4(4): 343-8, 1994 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-7981591

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