ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family
Lehtokari, V, Pelin, K, Wallgren-Pettersson, C
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Core-rod myopathy caused by mutations in the nebulin gene
Romero, N B, Lehtokari, V-L, Quijano-Roy, S, Monnier, N, Claeys, K G, Carlier, R Y, Pellegrini, N, Orlikowski, D, Barois, A, Laing, N G, Lunardi, J, Fardeau, M, Pelin, K, Wallgren-Pettersson, C
Published in Neurology (06.10.2009)
Published in Neurology (06.10.2009)
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Large copy number variants are common in the nebulin gene
Pelin, K, Lehtokari, V, Sagath, L, Wallgren-Pettersson, C, Kiiski, K
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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G.P.270
Lehtokari, V.L, Kiiski, K, Pelin, K, Wallgren-Pettersson, C
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Functional assessment of nebulin missense variants
Laitila, J, Marttila, M, Lehtokari, V, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Functional studies of YBX3 variants associated with nemaline myopathy
Sagath, L, Laitila, J, Lehtokari, V, Kiiski, K, Grönholm, M, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Functional assessment of nebulin interactions with actin
Laitila, J, Lehtonen, J, Marttila, M, Sagath, L, Lehtokari, V, Grönholm, M, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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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
Kiiski, K, Laari, L, Lehtokari, V.-L, Lunkka-Hytönen, M, Angelini, C, Petty, R, Hackman, P, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.01.2013)
Published in Neuromuscular disorders : NMD (01.01.2013)
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G.P.266
Kiiski, K, Lehtokari, V.L, Laari, L, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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G.P.274
Laitila, J, Lehtokari, V.L, Kiiski, K, Wallgren-Pettersson, C, Pelin, K
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Ectodermal dysplasia–skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1
Hsu, Chao-Kai, Liu, Lu, Can, Pelin K, Kocatürk, Emen, McMillan, James R, Güngör, Şule, Hürdoğan, Özge, Sargan, Aytul, Degirmentepe, Ece N, Lee, John Y.W, Simpson, Michael A, McGrath, John A
Published in Journal of dermatological science (01.11.2016)
Published in Journal of dermatological science (01.11.2016)
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Mutations in the β-tropomyosin ( TPM2) gene – a rare cause of nemaline myopathy
Donner, Kati, Ollikainen, Miina, Ridanpää, Maaret, Christen, Hans-Jürgen, Goebel, Hans H, de Visser, Marianne, Pelin, Katarina, Wallgren-Pettersson, Carina
Published in Neuromuscular disorders : NMD (01.02.2002)
Published in Neuromuscular disorders : NMD (01.02.2002)
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P.9.8 Nemaline myopathy: Mutations in alternatively spliced exons of the nebulin gene
Lehtokari, V.L, Laitila, J, Hanif, M, Pelin, K, Wallgren-Pettersson, C
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Differential isoform expression and selective muscle involvement in muscular dystrophies
Hackman, P, Huovinen, S, Penttilä, S, Keto, J, Somervuo, P, Auvinen, P, Vihola, A, Pelin, K, Raheem, O, Suominen, T, Udd, B
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene
Lehtokari, V.L, Kiiski, K, Pelin, K, Wallgren-Pettersson, C
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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