Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 59

1.

Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.

Lehtokari VL, Gardberg M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2018 Apr;28(4):323-326. doi: 10.1016/j.nmd.2017.12.009. Epub 2017 Dec 25.

PMID:
29433794
2.

Mutation-specific effects on thin filament length in thin filament myopathy.

Winter JM, Joureau B, Lee EJ, Kiss B, Yuen M, Gupta VA, Pappas CT, Gregorio CC, Stienen GJ, Edvardson S, Wallgren-Pettersson C, Lehtokari VL, Pelin K, Malfatti E, Romero NB, Engelen BG, Voermans NC, Donkervoort S, Bönnemann CG, Clarke NF, Beggs AH, Granzier H, Ottenheijm CA.

Ann Neurol. 2016 Jun;79(6):959-69. doi: 10.1002/ana.24654. Epub 2016 Apr 30.

3.

A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.

Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C.

J Neuromuscul Dis. 2015 Sep 21;2(4):433-438.

4.

Differential isoform expression and selective muscle involvement in muscular dystrophies.

Huovinen S, Penttilä S, Somervuo P, Keto J, Auvinen P, Vihola A, Huovinen S, Pelin K, Raheem O, Salenius J, Suominen T, Hackman P, Udd B.

Am J Pathol. 2015 Oct;185(10):2833-42. doi: 10.1016/j.ajpath.2015.06.018. Epub 2015 Aug 9.

PMID:
26269091
5.

A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.

Kiiski K, Lehtokari VL, Löytynoja A, Ahlstén L, Laitila J, Wallgren-Pettersson C, Pelin K.

Eur J Hum Genet. 2016 Apr;24(4):574-80. doi: 10.1038/ejhg.2015.166. Epub 2015 Jul 22.

6.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2015 Jan;125(1):456-7. doi: 10.1172/JCI80057. Epub 2015 Jan 2. No abstract available.

7.

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.

Pelin K, Kiiski K, Lehtokari VL, Wallgren-Pettersson C.

J Hum Genet. 2015 Mar;60(3):161-2. doi: 10.1038/jhg.2014.120. Epub 2015 Jan 15. No abstract available.

PMID:
25589043
8.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.

J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24. Erratum in: J Clin Invest. 2015 Jan;125(1):456-7.

9.

Mutation update: the spectra of nebulin variants and associated myopathies.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

10.

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.

Marttila M, Hanif M, Lemola E, Nowak KJ, Laitila J, Grönholm M, Wallgren-Pettersson C, Pelin K.

Skelet Muscle. 2014 Aug 1;4:15. doi: 10.1186/2044-5040-4-15. eCollection 2014.

11.

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Malfatti E, Lehtokari VL, Böhm J, De Winter JM, Schäffer U, Estournet B, Quijano-Roy S, Monges S, Lubieniecki F, Bellance R, Viou MT, Madelaine A, Wu B, Taratuto AL, Eymard B, Pelin K, Fardeau M, Ottenheijm CA, Wallgren-Pettersson C, Laporte J, Romero NB.

Acta Neuropathol Commun. 2014 Apr 12;2:44. doi: 10.1186/2051-5960-2-44.

12.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C.

Hum Mutat. 2014 Jul;35(7):779-90. doi: 10.1002/humu.22554. Epub 2014 May 1.

13.

Targeted array comparative genomic hybridization--a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes.

Kiiski K, Laari L, Lehtokari VL, Lunkka-Hytönen M, Angelini C, Petty R, Hackman P, Wallgren-Pettersson C, Pelin K.

Neuromuscul Disord. 2013 Jan;23(1):56-65. doi: 10.1016/j.nmd.2012.07.007. Epub 2012 Sep 23.

PMID:
23010307
14.

Expression of multiple nebulin isoforms in human skeletal muscle and brain.

Laitila J, Hanif M, Paetau A, Hujanen S, Keto J, Somervuo P, Huovinen S, Udd B, Wallgren-Pettersson C, Auvinen P, Hackman P, Pelin K.

Muscle Nerve. 2012 Nov;46(5):730-7. doi: 10.1002/mus.23380. Epub 2012 Aug 31.

PMID:
22941678
15.

Nebulin is not expressed in plants.

Pelin K.

Gene. 2012 Sep 10;506(1):263. doi: 10.1016/j.gene.2012.06.041. Epub 2012 Jun 28. No abstract available.

PMID:
22766093
16.

Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.

Lawlor MW, Ottenheijm CA, Lehtokari VL, Cho K, Pelin K, Wallgren-Pettersson C, Granzier H, Beggs AH.

Skelet Muscle. 2011 Jun 20;1(1):23. doi: 10.1186/2044-5040-1-23.

17.

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.

Neuromuscul Disord. 2011 Aug;21(8):556-62. doi: 10.1016/j.nmd.2011.05.012. Epub 2011 Jul 2.

PMID:
21724397
18.

Core-rod myopathy caused by mutations in the nebulin gene.

Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C.

Neurology. 2009 Oct 6;73(14):1159-61. doi: 10.1212/WNL.0b013e3181bacf45. No abstract available.

PMID:
19805734
19.

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.

Neuromuscul Disord. 2009 Mar;19(3):179-81. doi: 10.1016/j.nmd.2008.12.001. Epub 2009 Feb 15.

20.

Nebulin--a giant chameleon.

Pelin K, Wallgren-Pettersson C.

Adv Exp Med Biol. 2008;642:28-39.

PMID:
19181091
21.

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.

Eur J Hum Genet. 2008 Sep;16(9):1055-61. doi: 10.1038/ejhg.2008.60. Epub 2008 Apr 2.

22.

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.

Brain. 2007 Jun;130(Pt 6):1465-76.

PMID:
17525139
23.

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.

Neuromuscul Disord. 2007 Jun;17(6):433-42. Epub 2007 Apr 16.

PMID:
17434307
24.

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.

Hum Mutat. 2006 Sep;27(9):946-56.

PMID:
16917880
25.

Developmental and muscle-type-specific expression of mouse nebulin exons 127 and 128.

Donner K, Nowak KJ, Aro M, Pelin K, Wallgren-Pettersson C.

Genomics. 2006 Oct;88(4):489-95. Epub 2006 Jul 24.

26.

Transnasal, intracranial penetrating injury treated endoscopically.

Cetinkaya EA, Okan C, Pelin K.

J Laryngol Otol. 2006 Apr;120(4):325-6.

PMID:
16623978
27.

Magnetic resonance imaging of muscle in nemaline myopathy.

Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, North K, Laing N, Bydder G, Pelin K, Wallgren-Pettersson C, Muntoni F.

Neuromuscul Disord. 2004 Dec;14(12):779-84.

PMID:
15564032
28.

Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy.

Neuromuscul Disord. 2004 Sep;14(8-9):461-70.

PMID:
15336686
29.

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.

Eur J Hum Genet. 2004 Sep;12(9):744-51.

30.

Nebulin mutations in autosomal recessive nemaline myopathy: an update.

Pelin K, Donner K, Holmberg M, Jungbluth H, Muntoni F, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Oct;12(7-8):680-6.

PMID:
12207938
31.

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu H, Pelin K.

Neuromuscul Disord. 2002 Oct;12(7-8):674-9.

PMID:
12207937
32.

Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.

Donner K, Ollikainen M, Ridanpää M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C.

Neuromuscul Disord. 2002 Feb;12(2):151-8.

PMID:
11738357
33.

Nebulin expression in patients with nemaline myopathy.

Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M.

Neuromuscul Disord. 2001 Mar;11(2):154-62.

PMID:
11257471
34.

Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy.

Sewry CA, Brown SC, Pelin K, Jungbluth H, Wallgren-Pettersson C, Labeit S, Manzur A, Muntoni F.

Neuromuscul Disord. 2001 Mar;11(2):146-53.

PMID:
11257470
35.

Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain.

Centner T, Yano J, Kimura E, McElhinny AS, Pelin K, Witt CC, Bang ML, Trombitas K, Granzier H, Gregorio CC, Sorimachi H, Labeit S.

J Mol Biol. 2001 Mar 2;306(4):717-26.

PMID:
11243782
36.

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A.

Cell. 2001 Jan 26;104(2):195-203.

37.

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.

Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, Pelin K, Manzur AY, Mercuri E, Dubowitz V, Muntoni F.

Neuromuscul Disord. 2001 Jan;11(1):35-40.

PMID:
11166164
38.

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.

Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A.

Neuromuscul Disord. 1999 Dec;9(8):564-72.

PMID:
10619714
39.

Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.

Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, Jacob RL, Hübner C, Oexle K, Anderson JR, Verity CM, North KN, Iannaccone ST, Müller CR, Nürnberg P, Muntoni F, Sewry C, Hughes I, Sutphen R, Lacson AG, Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG.

Nat Genet. 1999 Oct;23(2):208-12.

PMID:
10508519
40.

The titin cDNA sequence and partial genomic sequences: insights into the molecular genetics, cell biology and physiology of the titin filament system.

Kolmerer B, Witt CC, Freiburg A, Millevoi S, Stier G, Sorimachi H, Pelin K, Carrier L, Schwartz K, Labeit D, Gregorio CC, Linke WA, Labeit S.

Rev Physiol Biochem Pharmacol. 1999;138:19-55. Review. No abstract available.

PMID:
10396137
41.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C.

Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.

42.

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs.

Millevoi S, Trombitas K, Kolmerer B, Kostin S, Schaper J, Pelin K, Granzier H, Labeit S.

J Mol Biol. 1998 Sep 11;282(1):111-23.

PMID:
9733644
43.

Induction of sister chromatid exchange by 1,2-epoxy-3-butene in cultured human lymphocytes: influence of GSTT1 genotype.

Bernardini S, Hirvonen A, Pelin K, Norppa H.

Carcinogenesis. 1998 Feb;19(2):377-80.

PMID:
9498293
44.

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.

Nature. 1998 Jan 8;391(6663):184-7.

PMID:
9428765
45.

Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.

Pelin K, Ridanpää M, Donner K, Wilton S, Krishnarajah J, Laing N, Kolmerer B, Millevoi S, Labeit S, de la Chapelle A, Wallgren-Petterson C.

Eur J Hum Genet. 1997 Jul-Aug;5(4):229-34.

PMID:
9359044
46.

Induction of sister chromatid exchange by 3,4-expoxybutane-1,2-diol in cultured human lymphocytes of different GSTT1 and GSTM1 genotypes.

Bernardini S, Pelin K, Peltonen K, Järventaus H, Hirvonen A, Neagu C, Sorsa M, Norppa H.

Mutat Res. 1996 Dec 12;361(2-3):121-7. Erratum in: Mutat Res 1997 Apr 24;390(1-2):199.

PMID:
8980697
47.

Gains and losses of DNA sequences in malignant mesothelioma by comparative genomic hybridization.

Kivipensas P, Björkqvist AM, Karhu R, Pelin K, Linnainmaa K, Tammilehto L, Mattson K, Kallioniemi QP, Knuutila S.

Cancer Genet Cytogenet. 1996 Jul 1;89(1):7-13.

PMID:
8689616
49.

Manganese superoxide dismutase in human pleural mesothelioma cell lines.

Kinnula VL, Pietarinen-Runtti P, Raivio K, Kahlos K, Pelin K, Mattson K, Linnainmaa K.

Free Radic Biol Med. 1996;21(4):527-32.

PMID:
8886804
50.

Inherited GSTM1 and NAT2 defects as concurrent risk modifiers in asbestos-related human malignant mesothelioma.

Hirvonen A, Pelin K, Tammilehto L, Karjalainen A, Mattson K, Linnainmaa K.

Cancer Res. 1995 Jul 15;55(14):2981-3.

Supplemental Content

Support Center