H. Tajsharghi: search on Z-Library

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1

Myosin storage myopathy associated with a heterozygous missense mutation in MYH7

Homa Tajsharghi, Lars-Eric Thornell, Christopher Lindberg, Björn Lindvall, Karl-Gösta Henriksson, Anders Oldfors

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 636 KB

english, 2003

2

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

Saba Abdul-Hussein, Peter F M van der Ven, Homa Tajsharghi

Journal:

BMC Musculoskeletal Disorders

Year:

2012

Language:

english

File:

PDF, 874 KB

english, 2012

3

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

Ohlsson, M., Hedberg, C., Bradvik, B., Lindberg, C., Tajsharghi, H., Danielsson, O., Melberg, A., Udd, B., Martinsson, T., Oldfors, A.

Journal:

Year:

2012

Language:

english

File:

PDF, 1.36 MB

english, 2012

4

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

Kariminejad, Ariana, Ghaderi-Sohi, Siavash, Hossein-Nejad Nedai, Hamid, Varasteh, Vahid, Moslemi, Ali-Reza, Tajsharghi, Homa

Journal:

BMC Musculoskeletal Disorders

Year:

2016

Language:

english

File:

PDF, 894 KB

english, 2016

5

A Caenorhabditis elegans model of the myosin heavy chain IIa E706R mutation

Homa Tajsharghi, Marc Pilon, Anders Oldfors

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 357 KB

english, 2005

6

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

Homa Tajsharghi, Katharina Stibrant Sunnerhagen, Niklas Darin, Mårten Kyllerman, Anders Oldfors

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 2.04 MB

english, 2004

7

β-Tropomyosin mutations alter tropomyosin isoform composition

J. Nilsson, H. Tajsharghi

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

8

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

Tajsharghi, Homa, Darin, Niklas, Rekabdar, Elham, Kyllerman, Mårten, Wahlström, Jan, Martinsson, Tommy, Oldfors, Anders

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 88 KB

english, 2005

9

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

Julien Ochala, Mingxin Li, Homa Tajsharghi, Eva Kimber, Mar Tulinius, Anders Oldfors, Lars Larsson

Journal:

The Journal of Physiology

Year:

2007

Language:

english

File:

PDF, 467 KB

english, 2007

10

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

Petr Vondracek, Marketa Hermanova, Kristina Vodickova, Lenka Fajkusova, Emma L. Blakely, Langping He, Douglass M. Turnbull, Robert W. Taylor, Homa Tajsharghi

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 1015 KB

english, 2007

11

MNP026 Clinical variation in distal arthrogryposis type 1, 2A and 2B with MYH3-mutations

E. Kimber, H. Tajsharghi, A.-K. Kroksmark, A. Oldfors, M. Tulinius

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

12

Distal arthrogryposis: clinical and genetic findings

Eva Kimber, Homa Tajsharghi, Anna-Karin Kroksmark, Anders Oldfors, Már Tulinius

Journal:

Acta Paediatrica

Year:

2012

Language:

english

File:

PDF, 293 KB

english, 2012

13

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

M. Ohlsson, H. Tajsharghi, N. Darin, M. Kyllerman, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 380 KB

english, 2004

14

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

Homa Tajsharghi, Niklas Darin, Mar Tulinius, Anders Oldfors

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 183 KB

english, 2005

15

‘Cap myopathy’: Case report of a family

J.M. Cuisset, C.A. Maurage, J.F. Pellissier, A. Barois, J.A. Urtizberea, N. Laing, H. Tajsharghi, L. Vallée

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 370 KB

english, 2006

16

P.P.5 06 A mutation in the fast skeletal muscle Troponin I gene causes myopathy and distal arthrogryposis

E. Kimber, H. Tajsharghi, A.-K. Kroksmark, A. Oldfors, M. Tulinius

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

17

P.P.5 05 A novel missense mutation in TPM2 associated with muscle weakness and distal arthrogryposis

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

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

18

G.P.8 03 Cap disease – a variant of nemaline myopathy

M. Ohlsson, H. Tajsharghi, C. Lindberg, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

19

Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)

M. Li, A. Lionikas, F. Yu, H. Tajsharghi, A. Oldfors, L. Larsson

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 560 KB

english, 2006

20

Myosin storage myopathy with cardiomyopathy

H. Tajsharghi, A. Oldfors, M. Swash

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

21

C.P.1.17 β-Tropomyosin mutations alter tropomyosin isoforms expression in skeletal muscle

J. Nilsson, A. Oldfors, H. Tajsharghi

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

22

C.P.1.16 Skeletal muscle pathology in distal arthrogryposis associated with novel mutations in the embryonic myosin heavy chain gene MYH3

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

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

23

C.P.1.18 Distal arthrogryposis: Clinical, molecular genetic and muscle pathology findings

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

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

24

C.O.7 Cap disease associated with mutations in the β-tropomyosin gene (TPM2)

M. Ohlsson, H. Tajsharghi, C. Lindberg, E. Lacène, A. Oldfors, M. Fardeau

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

25

P2.14 Familial myopathy with early respiratory failure and sharing of a large haplotype at chromosome 2q31

M. Ohlsson, B. Brådvik, C. Lindberg, H. Tajsharghi, T. Martinsson, A. Oldfors

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

26

P1.39 Transfection of cultured myoblast with mutant β-tropomyosin (TPM2EGFP)

S. Abdul-Hussein, A.R. Moslemi, H. Tajsharghi

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

27

D.I.2 Myosin myopathies and distal arthrogryposis syndromes

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

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 35 KB

english, 2010

28

O.20 Human disease caused by loss of fast IIa myosin heavy chain due to MYH2 mutations

H.T. Tajsharghi, D.H.J. Hilton-Jones, O.R. Raheem, A.M.S. Saukkonen, A.O. Oldfors, B.U. Udd

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 45 KB

english, 2010

29

O.19 Inactivation of glycogen synthesis priming due to a missense mutation in glycogenin-1 – A new disease mechanism

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

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

30

P5.77 Sarcomeric gene and protein expression during human myogenesis in vitro

S.A. Abdul-Hussein, H.T. Tajsharghi

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

31

Myosinopathies: pathology and mechanisms

Homa Tajsharghi, Anders Oldfors

Journal:

Acta Neuropathologica

Year:

2013

Language:

english

File:

PDF, 1.77 MB

english, 2013

32

Myopathies associated with β-tropomyosin mutations

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

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 1.81 MB

english, 2012

33

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.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 48 KB

english, 2012

34

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.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

35

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.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

36

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.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

37

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

Tajsharghi, Homa, Fyhr, Ing-Marie

Journal:

Scandinavian Cardiovascular Journal

Year:

2008

Language:

english

File:

PDF, 607 KB

english, 2008

38

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

Tajsharghi, Homa, Hammans, Simon, Lindberg, Christopher, Lossos, Alexander, Clarke, Nigel F, Mazanti, Ingrid, Waddell, Leigh B, Fellig, Yakov, Foulds, Nicola, Katifi, Haider, Webster, Richard, Raheem,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.37 MB

english, 2014

39

Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

Moslemi, Ali-Reza, Lindberg, Christopher, Nilsson, Johanna, Tajsharghi, Homa, Andersson, Bert, Oldfors, Anders

Journal:

Boston Medical and Surgical Journal

Year:

2010

Language:

english

File:

PDF, 1.03 MB

english, 2010

40

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

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

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 1.02 MB

english, 2010

41

Distal arthrogryposis and muscle weakness associated with a -tropomyosin mutation

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

Journal:

Year:

2007

Language:

english

File:

PDF, 974 KB

english, 2007

42

Autosomal dominant myopathy: Missense mutation (Glu-706 right-arrow Lys) in the myosin heavy chain IIa gene

Martinsson, T., Oldfors, A., Darin, N., Berg, K., Tajsharghi, H., Kyllerman, M., Wahlstrom, J.

Journal:

Proceedings of the National Academy of Sciences

Year:

2000

Language:

english

File:

PDF, 626 KB

english, 2000

43

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

Olive, M., Abdul-Hussein, S., Oldfors, A., Gonzalez-Costello, J., van der Ven, P. F. M., Furst, D. O., Gonzalez, L., Moreno, D., Torrejon-Escribano, B., Alio, J., Pou, A., Ferrer, I., Tajsharghi, H.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 839 KB

english, 2015

44

Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally

Tajsharghi, Homa, Kimber, Eva, Kroksmark, Anna-Karin, Jerre, Ragnar, Tulinius, Mar, Oldfors, Anders

Journal:

Archives of Neurology

Year:

2008

Language:

english

File:

PDF, 690 KB

english, 2008

45

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

Oldfors, A., Tajsharghi, H., Thornell, L. E., Meyer, B. F.

Journal:

Year:

2005

Language:

english

File:

PDF, 170 KB

english, 2005

46

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

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

Journal:

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

47

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., Wahlstrom, J., Oldfors, A.

Journal:

Year:

2002

Language:

english

File:

PDF, 391 KB

english, 2002

48

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy

Tajsharghi, H., Oldfors, A., Macleod, D. P., Swash, M.

Journal:

Year:

2007

Language:

english

File:

PDF, 1.45 MB

english, 2007

49

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.

Journal:

Year:

2006

Language:

english

File:

PDF, 1.73 MB

english, 2006

50

NEW SKELETAL MYOPATHY AND CARDIOMYOPATHY ASSOCIATED WITH A MISSENSE MUTATION IN MYH7

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

Journal:

Year:

2007

Language:

english

File:

PDF, 1.05 MB

english, 2007

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