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Author/Creator Topaloglu, H

1. 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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2. A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype. Issue 11 (19th November 2003)

Authors:
Beltrán-Valero de Bernabé, D; van Bokhoven, H; van Beusekom, E; Van den Akker, W; Kant, S; Dobyns, W B; Cormand, B; Currier, S; Hamel, B; Talim, B; Topaloglu, H; Brunner, H G
Journal:
Journal of medical genetics
Issue:
Volume 40:Issue 11(2003)
Page Start:
845
Record Type:
Journal Article
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4. Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy. Issue 2 (February 1997)

Authors:
Naom, I S; D'Alessandro, M; Topaloglu, H; Sewry, C; Ferlini, A; Helbling-Leclerc, A; Guicheney, P; Weissenbach, J; Schwartz, K; Bushby, K; Philpot, J; Dubowitz, V; Muntoni, F
Journal:
Journal of medical genetics
Issue:
Volume 34:Issue 2(1997)
Page Start:
99
Record Type:
Journal Article
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5. Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. Issue 9 (1st September 2005)

Authors:
Piluso, G; Politano, L; Aurino, S; Fanin, M; Ricci, E; Ventriglia, V M; Belsito, A; Totaro, A; Saccone, V; Topaloglu, H; Nascimbeni, A C; Fulizio, L; Broccolini, A; Canki-Klain, N; Comi, L I; Nigro, G; Angelini, C; Nigro, V
Journal:
Journal of medical genetics
Issue:
Volume 42:Issue 9(2005)
Page Start:
686
Record Type:
Journal Article
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8. A.06 Ataluren: an overview of clinical trial results in nonsense mutation Duchenne Muscular Dystrophy (nmDMD). (17th June 2016)

Authors:
McDonald, CM; Bushby, K; Tulinius, M; Finkel, R; Topaloglu, H; Day, JW; Flanigan, K; Lowes, L; Eagle, M; Luo, X; Elfring, G; Kroger, H; Riebling, P; Ong, T; Spiegel, R; Peltz, SW
Journal:
Canadian journal of neurological sciences
Issue:
Volume 43(2016)Supplement 2
Page Start:
S8
Record Type:
Journal Article
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