Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies
Nilipour, Y., Nafissi, S., Tjust, A. E., Ravenscroft, G., Hossein Nejad Nedai, H., Taylor, R. L., Varasteh, V., Pedrosa Domellöf, F., Zangi, M., Tonekaboni, S. H., Olivé, M., Kiiski, K., Sagath, L., Davis, M. R., Laing, N. G., Tajsharghi, H.
Published in European journal of neurology (01.06.2018)
Published in European journal of neurology (01.06.2018)
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Journal Article
Myopathies associated with β-tropomyosin mutations
Tajsharghi, H, Ohlsson, M, Palm, L, Oldfors, A
Published in Neuromuscular disorders : NMD (01.11.2012)
Published in Neuromuscular disorders : NMD (01.11.2012)
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Journal Article
Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion
Nilipour, Y, Nafissi, S, Varasteh, V, Hossein-Nejad, H, Tonekaboni, S, Ravenscroft, G, Olivé, M, Laing, N, Tajsharghi, H
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Journal Article
New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7
Darin, N, Tajsharghi, H, Ostman-Smith, I, Gilljam, T, Oldfors, A
Published in Neurology (05.06.2007)
Published in Neurology (05.06.2007)
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Journal Article
New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations
Ohlsson, M, Quijano-Roy, S, Darin, N, Brochier, G, Lacène, E, Avila-Smirnow, D, Fardeau, M, Oldfors, A, Tajsharghi, H
Published in Neurology (02.12.2008)
Published in Neurology (02.12.2008)
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Journal Article
P.9.16 The cause of developmental myopathy due to the embryonic myosin heavy chain Thr178Ile mutation
Pokrzywa, M, Ghobadpour, M, Abdul-Hussein, S, Moslemi, A.R, Tajsharghi, H
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.P.153
Tajsharghi, H, Hammans, S, Lindberg, C, Lossos, A, Clarke, N.F, Mazanti, I, Waddell, L.B, Fellig, Y, Foulds, N, Katifi, H, Raheem, O, Udd, B, Argov, Z, Oldfors, A
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Journal Article
P1.39 Transfection of cultured myoblast with mutant β-tropomyosin ( TPM2EGFP )
Abdul-Hussein, S, Moslemi, A.R, Tajsharghi, H
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis
Kimber, E, Tajsharghi, H, Kroksmark, A-K, Oldfors, A, Tulinius, M
Published in Neurology (22.08.2006)
Published in Neurology (22.08.2006)
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Journal Article
D.I.2 Myosin myopathies and distal arthrogryposis syndromes
Oldfors, A, Tajsharghi, H, Kimber, E, Darin, N, Lindberg, C
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
O.5 Mutations in MuRF1 and MuRF3 cause a novel protein aggregate myopathy and cardiomyopathy
Olivé, M, Abdul-Hussein, S, Oldfors, A, Fürst, D.O, van der Ven, P.F.M, Gonzalez-Mera, L, Gonzalez-Costello, J, Torrejon-Escribano, B, Alio, J, Pou, A, Ferrer, I, Tajsharghi, H
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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Journal Article
G.O.2 Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
Hedberg, C, Ohlsson, M, Brådvik, B, Lindberg, C, Tajsharghi, H, Danielsson, O, Melberg, A, Udd, B, Martinsson, T, Oldfors, A
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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Journal Article
P2.14 Familial myopathy with early respiratory failure and sharing of a large haplotype at chromosome 2q31
Ohlsson, M, Brådvik, B, Lindberg, C, Tajsharghi, H, Martinsson, T, Oldfors, A
Published in Neuromuscular disorders : NMD (01.10.2010)
Published in Neuromuscular disorders : NMD (01.10.2010)
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Journal Article
Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)
Li, M., Lionikas, A., Yu, F., Tajsharghi, H., Oldfors, A., Larsson, L.
Published in Neuromuscular disorders : NMD (01.11.2006)
Published in Neuromuscular disorders : NMD (01.11.2006)
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Journal Article
Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age
Tajsharghi, H, Thornell, L-E, Darin, N, Martinsson, T, Kyllerman, M, Wahlström, J, Oldfors, A
Published in Neurology (12.03.2002)
Published in Neurology (12.03.2002)
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