Lehtokari VL - Search Results

1

Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene.

Kiiski KJ, Lehtokari VL, Vihola AK, Laitila JM, Huovinen S, Sagath LJ, Evilä AE, Paetau AE, Sewry CA, Hackman PB, Pelin KB, Wallgren-Pettersson C, Udd B. Kiiski KJ, et al. Among authors: lehtokari vl. Neuromuscul Disord. 2019 Feb;29(2):97-107. doi: 10.1016/j.nmd.2018.12.007. Epub 2018 Dec 20. Neuromuscul Disord. 2019. PMID: 30679003

2

Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

Donner K, Sandbacka M, Lehtokari VL, Wallgren-Pettersson C, Pelin K. Donner K, et al. Among authors: lehtokari vl. Eur J Hum Genet. 2004 Sep;12(9):744-51. doi: 10.1038/sj.ejhg.5201242. Eur J Hum Genet. 2004. PMID: 15266303

3

Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Lehtokari VL, Pelin K, Sandbacka M, Ranta S, Donner K, Muntoni F, Sewry C, Angelini C, Bushby K, Van den Bergh P, Iannaccone S, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Hum Mutat. 2006 Sep;27(9):946-56. doi: 10.1002/humu.20370. Hum Mutat. 2006. PMID: 16917880

4

Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.

Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Agrawal PB, et al. Among authors: lehtokari vl. Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14. Am J Hum Genet. 2007. PMID: 17160903 Free PMC article.

5

Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.

Lehtokari VL, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing NG, Pelin K, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2007 Jun;17(6):433-42. doi: 10.1016/j.nmd.2007.02.015. Epub 2007 Apr 16. Neuromuscul Disord. 2007. PMID: 17434307

6

Distal myopathy caused by homozygous missense mutations in the nebulin gene.

Wallgren-Pettersson C, Lehtokari VL, Kalimo H, Paetau A, Nuutinen E, Hackman P, Sewry C, Pelin K, Udd B. Wallgren-Pettersson C, et al. Among authors: lehtokari vl. Brain. 2007 Jun;130(Pt 6):1465-76. doi: 10.1093/brain/awm094. Brain. 2007. PMID: 17525139

7

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin.

Lehtokari VL, Pelin K, Donner K, Voit T, Rudnik-Schöneborn S, Stoetter M, Talim B, Topaloglu H, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Eur J Hum Genet. 2008 Sep;16(9):1055-61. doi: 10.1038/ejhg.2008.60. Epub 2008 Apr 2. Eur J Hum Genet. 2008. PMID: 18382475

8

The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.

Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2009 Mar;19(3):179-81. doi: 10.1016/j.nmd.2008.12.001. Epub 2009 Feb 15. Neuromuscul Disord. 2009. PMID: 19232495 Free PMC article.

9

Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.

Ochala J, Lehtokari VL, Iwamoto H, Li M, Feng HZ, Jin JP, Yagi N, Wallgren-Pettersson C, Pénisson-Besnier I, Larsson L. Ochala J, et al. Among authors: lehtokari vl. FASEB J. 2011 Jun;25(6):1903-13. doi: 10.1096/fj.10-176727. Epub 2011 Feb 24. FASEB J. 2011. PMID: 21350120 Free PMC article.

10

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Lehtokari VL, Pelin K, Herczegfalvi A, Karcagi V, Pouget J, Franques J, Pellissier JF, Figarella-Branger D, von der Hagen M, Huebner A, Schoser B, Lochmüller H, Wallgren-Pettersson C. Lehtokari VL, et al. Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2. Neuromuscul Disord. 2011. PMID: 21724397

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