Tajsharghi H - Search Results

1

Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies.

Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Nilipour Y, et al. Among authors: tajsharghi h. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. Eur J Neurol. 2018. PMID: 29498452

2

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Tajsharghi H, et al. Ann Neurol. 2003 Oct;54(4):494-500. doi: 10.1002/ana.10693. Ann Neurol. 2003. PMID: 14520662

3

Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).

Ohlsson M, Tajsharghi H, Darin N, Kyllerman M, Oldfors A. Ohlsson M, et al. Among authors: tajsharghi h. Neuromuscul Disord. 2004 Sep;14(8-9):471-5. doi: 10.1016/j.nmd.2004.05.016. Neuromuscul Disord. 2004. PMID: 15336687

4

'Cap myopathy': case report of a family.

Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallée L. Cuisset JM, et al. Among authors: tajsharghi h. Neuromuscul Disord. 2006 Apr;16(4):277-81. doi: 10.1016/j.nmd.2006.01.014. Epub 2006 Mar 13. Neuromuscul Disord. 2006. PMID: 16531045

5

A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. Kimber E, et al. Among authors: tajsharghi h. Neurology. 2006 Aug 22;67(4):597-601. doi: 10.1212/01.wnl.0000230168.05328.f4. Neurology. 2006. PMID: 16924011

6

Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).

Tajsharghi H, Ohlsson M, Lindberg C, Oldfors A. Tajsharghi H, et al. Arch Neurol. 2007 Sep;64(9):1334-8. doi: 10.1001/archneur.64.9.1334. Arch Neurol. 2007. PMID: 17846275

7

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. Ohlsson M, et al. Among authors: tajsharghi h. Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8. Neurology. 2008. PMID: 19047562

8

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.

Ohlsson M, Hedberg C, Brådvik B, Lindberg C, Tajsharghi H, Danielsson O, Melberg A, Udd B, Martinsson T, Oldfors A. Ohlsson M, et al. Among authors: tajsharghi h. Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9. Brain. 2012. PMID: 22577218

9

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.

Tajsharghi H, Hammans S, Lindberg C, Lossos A, Clarke NF, Mazanti I, Waddell LB, Fellig Y, Foulds N, Katifi H, Webster R, Raheem O, Udd B, Argov Z, Oldfors A. Tajsharghi H, et al. Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6. Eur J Hum Genet. 2014. PMID: 24193343 Free PMC article.

10

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.

Olivé M, Abdul-Hussein S, Oldfors A, González-Costello J, van der Ven PF, Fürst DO, González L, Moreno D, Torrejón-Escribano B, Alió J, Pou A, Ferrer I, Tajsharghi H. Olivé M, et al. Among authors: tajsharghi h. Hum Mol Genet. 2015 Jul 1;24(13):3638-50. doi: 10.1093/hmg/ddv108. Epub 2015 Mar 23. Hum Mol Genet. 2015. PMID: 25801283

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