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Items: 48

1.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Lee RG, Sedghi M, Salari M, Shearwood AJ, Stentenbach M, Kariminejad A, Goullee H, Rackham O, Laing NG, Tajsharghi H, Filipovska A.

Neurol Genet. 2018 Oct 5;4(5):e276. doi: 10.1212/NXG.0000000000000276. eCollection 2018 Oct.

PMID:
30338296
2.

Drosophila model of myosin myopathy rescued by overexpression of a TRIM-protein family member.

Dahl-Halvarsson M, Olive M, Pokrzywa M, Ejeskär K, Palmer RH, Uv AE, Tajsharghi H.

Proc Natl Acad Sci U S A. 2018 Jul 10;115(28):E6566-E6575. doi: 10.1073/pnas.1800727115. Epub 2018 Jun 26.

PMID:
29946036
3.

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.

Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26.

PMID:
29498452
4.

TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.

Kariminejad A, Dahl-Halvarsson M, Ravenscroft G, Afroozan F, Keshavarz E, Goullée H, Davis MR, Faraji Zonooz M, Najmabadi H, Laing NG, Tajsharghi H.

Brain. 2017 Nov 1;140(11):2851-2859. doi: 10.1093/brain/awx230.

PMID:
29053766
5.

Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.

Dahl-Halvarsson M, Pokrzywa M, Rauthan M, Pilon M, Tajsharghi H.

PLoS One. 2017 Jan 26;12(1):e0170613. doi: 10.1371/journal.pone.0170613. eCollection 2017.

6.

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H.

BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5.

7.

Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.

Kariminejad A, Ghaderi-Sohi S, Hossein-Nejad Nedai H, Varasteh V, Moslemi AR, Tajsharghi H.

BMC Musculoskelet Disord. 2016 Mar 1;17:109. doi: 10.1186/s12891-016-0947-5.

8.

Developmental MYH3 Myopathy Associated with Expression of Mutant Protein and Reduced Expression Levels of Embryonic MyHC.

Pokrzywa M, Norum M, Lengqvist J, Ghobadpour M, Abdul-Hussein S, Moslemi AR, Tajsharghi H.

PLoS One. 2015 Nov 6;10(11):e0142094. doi: 10.1371/journal.pone.0142094. eCollection 2015.

9.

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.

Hum Mol Genet. 2015 Nov 1;24(21):6264. doi: 10.1093/hmg/ddv311. Epub 2015 Sep 7. No abstract available.

PMID:
26345447
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.

Hum Mol Genet. 2015 Jul 1;24(13):3638-50. doi: 10.1093/hmg/ddv108. Epub 2015 Mar 23. Erratum in: Hum Mol Genet. 2015 Nov 1;24(21):6264.

PMID:
25801283
11.

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.

Eur J Hum Genet. 2014 Jun;22(6):801-8. doi: 10.1038/ejhg.2013.250. Epub 2013 Nov 6.

12.

Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.

Abdul-Hussein S, Rahl K, Moslemi AR, Tajsharghi H.

PLoS One. 2013 Sep 10;8(9):e72396. doi: 10.1371/journal.pone.0072396. eCollection 2013.

13.

MYH2 mutation in recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12.

Lossos A, Oldfors A, Fellig Y, Meiner V, Argov Z, Tajsharghi H.

Brain. 2013 Jul;136(Pt 7):e238. doi: 10.1093/brain/aws365. Epub 2013 Feb 6. No abstract available.

PMID:
23388406
14.

Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells.

Abdul-Hussein S, van der Ven PF, Tajsharghi H.

BMC Musculoskelet Disord. 2012 Dec 29;13:262. doi: 10.1186/1471-2474-13-262.

15.

Myosinopathies: pathology and mechanisms.

Tajsharghi H, Oldfors A.

Acta Neuropathol. 2013 Jan;125(1):3-18. doi: 10.1007/s00401-012-1024-2. Epub 2012 Aug 5. Review.

16.

Myopathies associated with β-tropomyosin mutations.

Tajsharghi H, Ohlsson M, Palm L, Oldfors A.

Neuromuscul Disord. 2012 Nov;22(11):923-33. doi: 10.1016/j.nmd.2012.05.018. Epub 2012 Jun 29. Review.

PMID:
22749895
17.

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.

Brain. 2012 Jun;135(Pt 6):1682-94. doi: 10.1093/brain/aws103. Epub 2012 May 9.

PMID:
22577218
18.

Distal arthrogryposis: clinical and genetic findings.

Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M.

Acta Paediatr. 2012 Aug;101(8):877-87. doi: 10.1111/j.1651-2227.2012.02708.x. Epub 2012 May 24.

PMID:
22519952
19.

Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.

Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B.

Brain. 2010 May;133(Pt 5):1451-9. doi: 10.1093/brain/awq083.

PMID:
20418530
20.

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis.

Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A.

N Engl J Med. 2010 Apr 1;362(13):1203-10. doi: 10.1056/NEJMoa0900661.

21.

Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A.

J Med Genet. 2010 Aug;47(8):575-7. doi: 10.1136/jmg.2009.072710. Epub 2009 Oct 26.

PMID:
19858127
22.

TPM3 mutation in one of the original cases of cap disease.

Ohlsson M, Fidzianska A, Tajsharghi H, Oldfors A.

Neurology. 2009 Jun 2;72(22):1961-3. doi: 10.1212/WNL.0b013e3181a82659. No abstract available.

PMID:
19487656
23.

Thick and thin filament gene mutations in striated muscle diseases.

Tajsharghi H.

Int J Mol Sci. 2008 Jun;9(7):1259-75. doi: 10.3390/ijms9071259. Epub 2008 Jul 16.

24.

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.

Neurology. 2008 Dec 2;71(23):1896-901. doi: 10.1212/01.wnl.0000336654.44814.b8.

PMID:
19047562
25.

Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.

Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A.

Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083. Erratum in: Arch Neurol. 2008 Dec;65(12):1654.

PMID:
18695058
26.

Beta-tropomyosin mutations alter tropomyosin isoform composition.

Nilsson J, Tajsharghi H.

Eur J Neurol. 2008 Jun;15(6):573-8. doi: 10.1111/j.1468-1331.2008.02131.x. Epub 2008 Apr 14.

PMID:
18422639
27.

Structural effects of the slow/b-cardiac myosin heavy chain R453C mutation in cardiac and skeletal muscle.

Tajsharghi H, Fyhr IM.

Scand Cardiovasc J. 2008 Apr;42(2):153-6. doi: 10.1080/14017430701762701.

PMID:
18365899
28.

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.

Arch Neurol. 2007 Sep;64(9):1334-8.

PMID:
17846275
29.

Myosin storage myopathy with cardiomyopathy.

Tajsharghi H, Oldfors A, Swash M.

Neuromuscul Disord. 2007 Oct;17(9-10):725. Epub 2007 Jun 27. No abstract available.

PMID:
17588755
30.

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A.

Neurology. 2007 Jun 5;68(23):2041-2. No abstract available.

PMID:
17548557
31.

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres.

Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, Larsson L.

J Physiol. 2007 Jun 15;581(Pt 3):1283-92. Epub 2007 Apr 12.

32.

An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI.

Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H.

Eur J Paediatr Neurol. 2007 Nov;11(6):381-4. Epub 2007 Mar 29.

PMID:
17395506
33.

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

Tajsharghi H, Oldfors A, Macleod DP, Swash M.

Neurology. 2007 Mar 20;68(12):962. No abstract available.

PMID:
17372140
34.

Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.

Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A.

Neurology. 2007 Mar 6;68(10):772-5.

PMID:
17339586
35.

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.

Neuromuscul Disord. 2006 Nov;16(11):782-91. Epub 2006 Sep 26.

36.

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.

Neurology. 2006 Aug 22;67(4):597-601.

PMID:
16924011
37.

'Cap myopathy': case report of a family.

Cuisset JM, Maurage CA, Pellissier JF, Barois A, Urtizberea JA, Laing N, Tajsharghi H, Vallée L.

Neuromuscul Disord. 2006 Apr;16(4):277-81. Epub 2006 Mar 13.

PMID:
16531045
38.

A Caenorhabditis elegans model of the myosin heavy chain IIa E706K [corrected] mutation.

Tajsharghi H, Pilon M, Oldfors A.

Ann Neurol. 2005 Sep;58(3):442-8. Erratum in: Ann Neurol. 2005 Nov;58(5):818.

PMID:
16130113
39.

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

Tajsharghi H, Darin N, Tulinius M, Oldfors A.

Neuromuscul Disord. 2005 Apr;15(4):299-302. Epub 2005 Jan 28.

PMID:
15792869
40.

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.

Eur J Hum Genet. 2005 May;13(5):617-22.

41.

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

Oldfors A, Tajsharghi H, Thornell LE.

Neurology. 2005 Feb 8;64(3):580-1; author reply 580-1. Review. No abstract available.

PMID:
15699411
42.

Myopathies associated with myosin heavy chain mutations.

Oldfors A, Tajsharghi H, Darin N, Lindberg C.

Acta Myol. 2004 Sep;23(2):90-6. Review.

PMID:
15605950
43.

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.

Neuromuscul Disord. 2004 Sep;14(8-9):471-5.

PMID:
15336687
44.

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

Sunnerhagen KS, Darin N, Tajsharghi H, Oldfors A.

Acta Neurol Scand. 2004 Aug;110(2):80-6. Erratum in: Acta Neurol Scand. 2005 Jan;111(1):74. Tasjharghi, H [corrected to Tajsharghi, H].

PMID:
15242414
45.

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

Tajsharghi H, Sunnerhagen KS, Darin N, Kyllerman M, Oldfors A.

J Neurol. 2004 Feb;251(2):179-83.

PMID:
14991352
46.

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

Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A.

Ann Neurol. 2003 Oct;54(4):494-500.

PMID:
14520662
47.

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.

Neurology. 2002 Mar 12;58(5):780-6.

PMID:
11889243
48.

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.

Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14614-9.

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