No photo of Katarina Pelin
  • PL 56 (Viikinkaari 9)

    00014

    Finland

  • Viikinkaari 5, Biocenter 2

    00790 Helsinki

    Finland

1985 …2020

Research output per year

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Publications

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Article
2020

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Laitila, J. M., McNamara, E. L., Wingate, C. D., Goullee, H., Ross, J. A., Taylor, R. L., van der Pijl, R., Griffiths, L. M., Harries, R., Ravenscroft, G., Clayton, J. S., Sewry, C., Lawlor, M. W., Ottenheijm, C. A. C., Bakker, A. J., Ochala, J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K. & Nowak, K. J., 17 Feb 2020, In : Acta Neuropathologica Communications. 8, 1, 19 p., 18.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2019

A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat region

Laitila, J., Lehtonen, J., Lehtokari, V-L., Sagath, L., Wallgren-Pettersson, C., Grönholm, M. & Pelin, K., Jan 2019, In : Muscle & Nerve. 59, 1, p. 116-121 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Kiiski, K. J., Lehtokari, V-L., Vihola, A. K., Laitila, J. M., Huovinen, S., Sagath, L. J., Evilä, A. E., Paetau, A. E., Sewry, C. A., Hackman, P. B., Pelin, K. B., Wallgren-Pettersson, C. & Udd, B., Feb 2019, In : Neuromuscular Disorders. 29, 2, p. 97-107 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2018

An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders

Sagath, L., Lehtokari, V-L., Välipakka, S., Udd, B., Wallgren-Pettersson, C., Pelin, K. & Kiiski, K., 2018, In : Journal of Neuromuscular Diseases. 5, 3, p. 307-314 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Lehtokari, V-L., Gardberg, M., Pelin, K. & Wallgren-Pettersson, C., 1 Apr 2018, In : Neuromuscular Disorders. 28, 4, p. 323-326 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation

Le, T. L., Holt, I., Laitila, J., Hanif, M., Pelin, K., Wallgren-Pettersson, C., Sewry, C. A. & Morris, G. E., 24 Oct 2018, In : Scientific Reports. 8, 10 p., 15728.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2017

Copy number variation analysis increases the diagnostic yield in muscle diseases

Välipakka, S., Savarese, M., Johari, M., Sagath, L., Arumilli, M., Kiiski, K., Saenz, A., Lopez de Munain, A., Cobo, A-M., Pelin, K., Udd, B. & Hackman, P., Dec 2017, In : Neurology Genetics. 3, 6, 5 p., 204.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2016

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

Kiiski, K., Lehtokari, V-L., Loytynoja, A., Ahlsten, L., Laitila, J., Wallgren-Pettersson, C. & Pelin, K., Apr 2016, In : European Journal of Human Genetics. 24, 4, p. 574-580 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

de Winter, J. M., Joureau, B., Lee, E-J., Kiss, B., Yuen, M., Gupta, V. A., Pappas, C. T., Gregorio, C. C., Stienen, G. J. M., Edvardson, S., Wallgren-Pettersson, C., Lehtokari, V-L., Pelin, K., Malfatti, E., Romero, N. B., van Engelen, B. G., Voermans, N. C., Donkervoort, S., Bonnemann, C. G., Clarke, N. F. & 3 others, Beggs, A. H., Granzier, H. & Ottenheijm, C. A. C., Jun 2016, In : Annals of Neurology. 79, 6, p. 959-969 11 p.

Research output: Contribution to journalArticleScientificpeer-review

A large deletion affecting TPM3, causing severe nemaline myopathy

Kiiski, K., Lehtokari, V-L., Manzur, A. Y., Sewry, C., Zaharieva, I., Muntoni, F., Pelin, K. & Wallgren-Pettersson, C., 2015, In : Journal of Neuromuscular Diseases. 2, 4, p. 433-438 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies

Huovinen, S., Penttila, S., Somervuo, P., Keto, J., Auvinen, P., Vihola, A., Huovinen, S., Pelin, K., Raheem, O., Salenius, J., Suominen, T., Hackman, P. & Udd, B., Oct 2015, In : The American Journal of Pathology. 185, 10, p. 2833-2842 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

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

Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., Lek, M., Nolent, F., Pappas, C. T., Novak, S. M., D'Amico, A., Malfatti, E., Thomas, B. P., Gabriel, S. B. & 37 others, Gupta, N., Daly, M. J., Ilkovski, B., Houweling, P. J., Davidson, A. E., Swanson, L. C., Brownstein, C. A., Gupta, V. A., Medne, L., Shannon, P., Martin, N., Bick, D. P., Flisberg, A., Holmberg, E., Van den Bergh, P., Lapunzina, P., Waddell, L. B., Sioboda, D. D., Bertini, E., Chitayat, D., Telfer, W. R., Laquerriere, A., Gregorio, C. C., Ottenheijm, C. A. C., Boennemann, C. G., Pelin, K., Beggs, A. H., Hayashi, Y. K., Romero, N. B., Laing, N. G., Nishino, I., Wallgren-Pettersson, C., Melki, J., Fowler, V. M., MacArthur, D. G., North, K. N. & Clarke, N. F., Nov 2014, In : Journal of Clinical Investigation. 124, 11, p. 4693-4708 16 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Malfatti, E., Lehtokari, V-L., Böhm, J., De Winter, J. M., Schäffer, U., Estournet, B., Quijano-Roy, S., Monges, S., Lubieniecki, F., Bellance, R., Viou, M. T., Madelaine, A., Wu, B., Taratuto, A. L., Eymard, B., Pelin, K., Fardeau, M., Ottenheijm, C. AC., Wallgren-Pettersson, C., Laporte, J. & 1 others, Romero, N. B., 2014, In : Acta Neuropathologica Communications. 2, 14 p., 44.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Lehtokari, V-L., Kiiski, K., Sandaradura, S. A., Laporte, J., Repo, P., Frey, J. A., Donner, K., Marttila, M., Saunders, C., Barth, P. G., den Dunnen, J. T., Beggs, A. H., Clarke, N. F., North, K. N., Laing, N. G., Romero, N. B., Winder, T. L., Pelin, K. & Wallgren-Pettersson, C., 2014, In : Human Mutation. 35, 12, p. 1418-1426 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

Marttila, M., Lehtokari, V-L., Marston, S., Nyman, T. A., Barnerias, C., Beggs, A. H., Bertini, E., Ceyhan-Birsoy, O., Cintas, P., Gerard, M., Gilbert-Dussardier, B., Hogue, J. S., Longman, C., Eymard, B., Frydman, M., Kang, P. B., Klinge, L., Kolski, H., Lochmueller, H., Magy, L. & 21 others, Manel, V., Mayer, M., Mercuri, E., North, K. N., Peudenier-Robert, S., Pihko, H., Probst, F. J., Reisin, R., Stewart, W., Taratuto, A. L., de Visser, M., Wilichowski, E., Winer, J., Nowak, K., Laing, N. G., Winder, T. L., Monnier, N., Clarke, N. F., Pelin, K., Gronholm, M. & Wallgren-Pettersson, C., Jul 2014, In : Human Mutation. 35, 7, p. 779-790 12 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Marttila, M., Mubashir, H., Lemola, E., Nowak, K. J., Laitila, J., Gronholm, M., Wallgren-Pettersson, C. & Pelin, K., 1 Aug 2014, In : Skeletal Muscle. 4, 10 p., 15.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2013

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, V. -L., Lunkka-Hytonen, M., Angelini, C., Petty, R., Hackman, P., Wallgren-Pettersson, C. & Pelin, K., Jan 2013, In : Neuromuscular Disorders. 23, 1, p. 56-65 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

Expression of multiple nebulin isoforms in human skeletal muscle and brain

Laitila, J., Hanif, M., Paetau, A., Hujanen, S., Keto, J., Somervuo, P. J., Huovinen, S., Udd, B., Wallgren-Pettersson, C., Auvinen, P., Hackman, P. & Pelin, K., 2012, In : Muscle & Nerve. 46, 5, p. 730-737 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Nebulin is not expressed in plants

Pelin, K., 2012, In : Gene. 506, 1, p. 263 1 p.

Research output: Contribution to journalArticleScientific

2011

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

Lehtokari, V-L., Pelin, K., Herczegfalvi, A., Karcagi, V., Pouget, J., Franques, J., Pellissier, J. F., Figarella-Branger, D., von der Hagen, M., Huebner, A., Schoser, B., Lochmueller, H. & Wallgren-Pettersson, C., 2011, In : Neuromuscular Disorders. 21, 8, p. 556-562 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Lawlor, M., Ottenheijm, C., Lehtokari, V-L., Cho, K., Pelin, K., Wallgren-Pettersson, C., Granzier, H. & Beggs, A., 2011, In : Skeletal Muscle. 1, 12 p., 23.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2010

Välkommen ny lärobok i genetik

Pelin, K. & Wallgren-Pettersson, C., 13 Aug 2010, In : Suomen lääkärilehti. 65, 32, p. 2540 1 p.

Research output: Contribution to journalArticleScientific

2009

Core-rod myopathy caused by mutations in the nebulin gene

Romero, N. B., Lehtokari, V-L., Quijano-Roy, S., Monnier, N., Claeys, K. G., Carlier, R. Y., Pellegrini, N., Orlikowski, D., Barois, A., Laing, N. G., Lunardi, J., Fardeau, M., Pelin, K. & Wallgren-Pettersson, C., 2009, In : Neurology. 73, 14, p. 1159-1161 3 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Lehtokari, V-L., Greenleaf, R. S., DeChene, E. T., Kellinsalmi, M., Pelin, K., Laing, N. G., Beggs, A. H. & Wallgren-Pettersson, C., 2009, In : Neuromuscular Disorders. 19, 3, p. 179-181 3 p.

Research output: Contribution to journalArticleScientificpeer-review

2008

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

Lehtokari, V-L., Pelin, K., Donner, K., Voit, T., Rudnik-Schöneborn, S., Stoetter, M., Talim, B., Topaloglu, H., Laing, N. G. & Wallgren-Pettersson, C., 2008, In : European Journal of Human Genetics. 16, 9, p. 1055-1061 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Nya metoder inom genetisk diagnostik och forskning - är vi på väg mot peronlig genomik?

Pelin, K., 2008, In : Finska Läkaresällskapets Handlingar. 168, 2, p. 8-12 5 p.

Research output: Contribution to journalArticleScientific

2007

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

Lehtokari, V-L., Ceuterick-de Groote, C., de Jonghe, P., Marttila, M. M., Laing, N. G., Pelin, K., Wallgren-Pettersson, C. & Martiila, M., 2007, In : Neuromuscular Disorders. 17, 6, p. 433-442 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Distal myopathy caused by homozygous missense mutations in the nebulin gene

Wallgren-Pettersson, C., Lehtokari, V-L., Kalimo, H., Paetau, A., Nuutinen, E., Hackman, P., Sewry, C., Pelin, K. & Udd, B., 2007, In : Brain : a journal of neurology. 130, Pt 6, p. 1465-1476 12 p.

Research output: Contribution to journalArticleScientificpeer-review

2006

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

Donner, K., Nowak, K. J., Aro, M., Pelin, K. & Wallgren-Pettersson, C., 2006, In : Genomics. 88, p. 489-495 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Lehtokari, V-L., Pelin, K., Sandbacka, M., Ranta, S., Donner, K., Muntoni, F., Sewry, C., Angelini, C., Bushby, K., van den Bergh, P., Iannaccone, S., Laing, N. G. & Wallgren-Pettersson, C., 2006, In : Human Mutation. 27, 9, p. 946-956 11 p.

Research output: Contribution to journalArticleScientificpeer-review

2004

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

Donner, K., Sandbacka, M., Lehtokari, V. L., Wallgren-Pettersson, C. & Pelin, K., 2004, In : European Journal of Human Genetics. 12, p. 744-751 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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 Int Consortium Nemaline Myop, Sep 2004, In : Neuromuscular Disorders. 14, 8-9, p. 461-470 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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., Dec 2004, In : Neuromuscular Disorders. 14, 12, p. 779-784 6 p.

Research output: Contribution to journalArticleScientificpeer-review

2002

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

Donner, K., Ollikainen, M., Ridanpaa, M., Christen, HJ., Goebel, HH., de Visser, M., Pelin, K. & Wallgren-Pettersson, C., Feb 2002, In : Neuromuscular Disorders. 12, 2, p. 151-158 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Wallgren-Pettersson, C., Donner, K., Sewry, C., Bijlsma, E., Lammens, M., Bushby, K., Uzielli, M. L. G., Lapi, E., Odent, S., Akcoren, Z., Topaloglu, H. & Pelin, K., 2002, In : Neuromuscular Disorders. 12, p. 674-679 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Nebulin mutations in autosomal recessive nemaline myopathy: an update

Pelin, K., Donner, K., Sandbacka, M., Jungbluth, H., Muntoni, F. & Wallgren-Pettersson, C., 2002, In : Neuromuscular Disorders. 12, p. 680-686 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2001

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., Mar 2001, In : Neuromuscular Disorders. 11, 2, p. 146-153 8 p.

Research output: Contribution to journalArticleScientificpeer-review

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., 2 Mar 2001, In : Journal of Molecular Biology. 306, 4, p. 717-726 10 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Jungbluth, H., Sewry, C. A., Brown, S. C., Nowak, K. J., Laing, N. G., Wallgren-Pettersson, C., Pelin, K., Manzur, A. Y., Mercuri, E., Dubowitz, V. & Muntoni, F., 2001, In : Neuromuscular Disorders. 11, 1, p. 35-40 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Donner, K., Ollikainen, M., Ridanpää, M., Christen, H-J., de Visser, M., Pelin, K. & Wallgren-Pettersson, A. C., 2001, In : Neuromuscular Disorders. 12, p. 151-158

Research output: Contribution to journalArticleScientificpeer-review

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

Ridanpaa, M., van Eenennaam, H., Pelin, K., Chadwick, R., Johnson, C., Yuan, B., vanVenrooij, W., Pruijn, G., Salmela, R., Rockas, S., Makitie, O., Kaitila, I. & de la Chapelle, A., 2001, In : Cell. 104, 2, p. 195-203 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Nebulin expression in patients with nemaline myopathy

Gurgel-Giannetti, J., Reed, U., Bang, M. L., Pelin, K., Donner, K., Marie, S. K., Carvalho, M., Fireman, M. A. T., Zanoteli, E., Oliveira, A. S. B., Zatz, M., Wallgren-Pettersson, C., Labeit, S. & Vainzof, M., 2001, In : Neuromuscular Disorders. 11, p. 154-162 9 p.

Research output: Contribution to journalArticleScientificpeer-review

1999

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

Wallgren-Pettersson, A. C., Pelin, K., Hilpelä, P. E., Donner, K., Porfirio, B., Graziano, C., Swoboda, K. J., Fardeau, M., Urtizberea, J. A., Muntoni, F., Sewry, C., Dubowitz, V., Iannaccone, S., Minetti, C., Pedemonte, M., Seri, M., Cusano, R., Lammens, M., Castagna-Sloane, A., Beggs, A. H. & 2 others, Laing, N. G. & de la Chapelle, A., 1999, In : Neuromuscular Disorders. 9, 8, p. 564-572 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

Pelin, K., Hotulainen, P. E., Donner, K., Sewry, C., Akkari, P. A., Wilton, S. D., Wattanasirichaigoon, D., Bang, M. L., Centner, T., Hanefeld, F., Odent, S., Fardeau, M., Urtizberea, J. A., Muntoni, F., Dubowitz, V., Beggs, A. H., Laing, N. G., Labeit, S., de la Chapelle, A. & Wallgren-Pettersson, A. C., 1999, In : Proceedings of the National Academy of Sciences of the United States of America. 96, p. 2305-2310 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Nowak, K. J., Wattanasirichaigoon, D., Goebel, H. H., Wilce, M., Pelin, K., Donner, K., Jacob, R. L., Hubner, C., Oexle, K., Anderson, J. R., Verity, C. M., North, K. N., Iannaccone, S. T., Muller, C. R., Nurnberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A. G. & 5 others, Swoboda, K. J., Vigneron, J., Wallgren-Pettersson, C., Beggs, A. H. & Laing, N. G., 1999, In : Nature Genetics. 23, p. 208-212 5 p.

Research output: Contribution to journalArticleScientificpeer-review

1998

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

Hemminki, A., Markie, D., Tomlinson, S. J., Avizienyte, E., Roth, S., Loukola, A., Bignell, G., Warren, W., Aminoff, M., Höglund, P., Jarvinen, H., Kristo, P., Pelin, K., Ridanpaa, M., Salovaara, R., Toro, T., Bodmer, W., Olschwang, S., Olsen, AS., Stratton, MR. & 2 others, de la Chapelle, A. & Aaltonen, LA., 8 Jan 1998, In : Nature. 391, 6663, p. 184-187 4 p.

Research output: Contribution to journalArticleScientificpeer-review

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., 1998, In : Journal of Molecular Biology. 282, 1, p. 111-123 13 p.

Research output: Contribution to journalArticleScientificpeer-review

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., 1998, In : Carcinogenesis. 19, 2, p. 377-380 4 p.

Research output: Contribution to journalArticleScientificpeer-review