Mutations in amphiphysin 2 ( BIN1 ) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy von Nicot, Anne-Sophie, Tosch, Valérie, Toussaint, Anne, Laporte, Jocelyn, Kingston, Helen, Wallgren-Pettersson, Carina, Oldfors, Anders, Garnier, Jean-Marie, Kretz, Christine, Mandel, Jean-Louis, Biancalana, Valérie, Iwarsson, Erik

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ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family von Lehtokari, V, Pelin, K, Wallgren-Pettersson, C

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CORE-ROD MYOPATHY CAUSED BY MUTATIONS IN THE NEBULIN GENE von ROMERO, N. B, LEHTOKARI, V.-L, LUNARDI, J, FARDEAU, M, PELIN, K, WALLGREN-PETTERSSON, C, QUIJANO-ROY, S, MONNIER, N, CLAEYS, K. G, CARLIER, R. Y, PELLEGRINI, N, ORLIKOWSKI, D, BAROIS, A, LAING, N. G

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Large copy number variants are common in the nebulin gene von Pelin, K, Lehtokari, V, Sagath, L, Wallgren-Pettersson, C, Kiiski, K

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Mutations of the slow muscle α-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy von WATTANASIRICHAIGOON, D, SWOBODA, K. J, TAKADA, F, TONG, H.-Q, LIP, V, IANNACCONE, S. T, WALLGREN-PETTERSSON, C, LAING, N. G, BEGGS, A. H

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G.P.270 von Lehtokari, V.L, Kiiski, K, Pelin, K, Wallgren-Pettersson, C

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Functional assessment of nebulin missense variants von Laitila, J, Marttila, M, Lehtokari, V, Wallgren-Pettersson, C, Pelin, K

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Functional assessment of nebulin interactions with actin von Laitila, J, Lehtonen, J, Marttila, M, Sagath, L, Lehtokari, V, Grönholm, M, Wallgren-Pettersson, C, Pelin, K

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Functional studies of YBX3 variants associated with nemaline myopathy von Sagath, L, Laitila, J, Lehtokari, V, Kiiski, K, Grönholm, M, Wallgren-Pettersson, C, Pelin, K

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Targeted array comparative genomic hybridization – A new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes von Kiiski, K, Laari, L, Lehtokari, V.-L, Lunkka-Hytönen, M, Angelini, C, Petty, R, Hackman, P, Wallgren-Pettersson, C, Pelin, K

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G.P.274 von Laitila, J, Lehtokari, V.L, Kiiski, K, Wallgren-Pettersson, C, Pelin, K

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G.P.266 von Kiiski, K, Lehtokari, V.L, Laari, L, Wallgren-Pettersson, C, Pelin, K

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X-linked myotubular myopathy in ambulant patients von Annoussamy, M, Chë, V, Lilien, C, Gidaro, T, Daron, A, Mayer, M, Arnal, J, Wallgren-Pettersson, C, Biancalana, V, Laporte, J, Hogrel, J, Ramsdell, D, Landy, H, Buj-Bello, A, Servais, L

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C.P.16 Mutations in the β-tropomyosin (TPM2) and γ-tropomyosin (TPM3) genes causing a spectrum of neuromuscular disorders von Marttila, M, Lehtokari, V.-L, Wallgren-Pettersson, C

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C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene von Lehtokari, V.L, Kiiski, K, Pelin, K, Wallgren-Pettersson, C

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P3.46 Studying the pathogenesis of nebulin-caused nemaline myopathy and related disorders von Hanif, M, Grönholm, M, Pelin, K, Wallgren-Pettersson, C

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P1.40 dHLPC for mutation analysis of β- and α(slow)-tropomyosins ( TPM2 and TPM3 ) von Lehtokari, V.L, Pelin, K, Wallgren-Pettersson, C

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