Tajsharghi H - Search Results

1

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

2

Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene.

Martinsson T, Oldfors A, Darin N, Berg K, Tajsharghi H, Kyllerman M, Wahlstrom J. Martinsson T, et al. Among authors: tajsharghi h. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14614-9. doi: 10.1073/pnas.250289597. Proc Natl Acad Sci U S A. 2000. PMID: 11114175 Free PMC article.

3

Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.

Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlström J, Oldfors A. Tajsharghi H, et al. Neurology. 2002 Mar 12;58(5):780-6. doi: 10.1212/wnl.58.5.780. Neurology. 2002. PMID: 11889243

4

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

5

Induced shift in myosin heavy chain expression in myosin myopathy by endurance training.

Tajsharghi H, Sunnerhagen KS, Darin N, Kyllerman M, Oldfors A. Tajsharghi H, et al. J Neurol. 2004 Feb;251(2):179-83. doi: 10.1007/s00415-004-0295-5. J Neurol. 2004. PMID: 14991352

6

The effects of endurance training in persons with a hereditary myosin myopathy.

Sunnerhagen KS, Darin N, Tajsharghi H, Oldfors A. Sunnerhagen KS, et al. Among authors: tajsharghi h. Acta Neurol Scand. 2004 Aug;110(2):80-6. doi: 10.1111/j.1600-0404.2004.00282.x. Acta Neurol Scand. 2004. PMID: 15242414 Clinical Trial.

7

Myopathies associated with myosin heavy chain mutations.

Oldfors A, Tajsharghi H, Darin N, Lindberg C. Oldfors A, et al. Among authors: tajsharghi h. Acta Myol. 2004 Sep;23(2):90-6. Acta Myol. 2004. PMID: 15605950 Review.

8

Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

Oldfors A, Tajsharghi H, Thornell LE. Oldfors A, et al. Among authors: tajsharghi h. Neurology. 2005 Feb 8;64(3):580-1; author reply 580-1. doi: 10.1212/wnl.64.3.580-a. Neurology. 2005. PMID: 15699411 Review. No abstract available.

9

Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).

Tajsharghi H, Darin N, Rekabdar E, Kyllerman M, Wahlström J, Martinsson T, Oldfors A. Tajsharghi H, et al. Eur J Hum Genet. 2005 May;13(5):617-22. doi: 10.1038/sj.ejhg.5201375. Eur J Hum Genet. 2005. PMID: 15741996

10

Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1).

Tajsharghi H, Darin N, Tulinius M, Oldfors A. Tajsharghi H, et al. Neuromuscul Disord. 2005 Apr;15(4):299-302. doi: 10.1016/j.nmd.2004.11.004. Epub 2005 Jan 28. Neuromuscul Disord. 2005. PMID: 15792869

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