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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region
Author / Creator:Sagath, Lydia ; Lehtokari, Vilma-Lotta ; Wallgren-Pettersson, Carina ; Pelin, Katarina ; Kiiski, Kirsi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2022-05, Vol.17 (5), p.e0267793-e0267793
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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield
Author / Creator:Lehtonen, Johanna ; Sulonen, Anna-Maija ; Almusa, Henrikki ; Lehtokari, Vilma-Lotta ; Johari, Mridul ; Palva, Aino ; Hakonen, Anna H. ; Wartiovaara, Kirmo ; Lehesjoki, Anna-Elina ; Udd, Bjarne ; Wallgren-Pettersson, Carina ; Pelin, Katarina ; Savarese, Marco ; Saarela, Janna
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-02, Vol.14 (1), p.4306-11, Article 4306
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Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb
Author / Creator:Laitila, Jenni M ; McNamara, Elyshia L ; Wingate, Catherine D ; Goullee, Hayley ; Ross, Jacob A ; Taylor, Rhonda L ; van der Pijl, Robbert ; Griffiths, Lisa M ; Harries, Rachel ; Ravenscroft, Gianina ; Clayton, Joshua S ; Sewry, Caroline ; Lawlor, Michael W ; Ottenheijm, Coen A C ; Bakker, Anthony J ; Ochala, Julien ; Laing, Nigel G ; Wallgren-Pettersson, Carina ; Pelin, Katarina ; Nowak, Kristen J
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2020-02, Vol.8 (1), p.18-19, Article 18
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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 weaknes...
Author / Creator:Pelin, Katarina ; Kiiski, Kirsi ; Lehtokari, Vilma-Lotta ; Wallgren-Pettersson, Carina
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2015-03, Vol.60 (3), p.161-162
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Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts
Author / Creator:Donner, Kati ; Sandbacka, Maria ; Lehtokari, Vilma-Lotta ; Wallgren-Pettersson, Carina ; Pelin, Katarina
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2004-09, Vol.12 (9), p.744-751
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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
Author / Creator:Lawlor, Michael W ; Ottenheijm, Coen A ; Lehtokari, Vilma-Lotta ; Cho, Kiyomi ; Pelin, Katarina ; Wallgren-Pettersson, Carina ; Granzier, Henk ; Beggs, Alan H
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2011-06, Vol.1 (1), p.23-23, Article 23
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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy
Author / Creator:Pelin, Katarina ; Hilpela, Pirta ; Donner, Kati ; Sewry, Caroline ; Akkari, Patrick A. ; Wilton, Stephen D. ; Wattanasirichaigoon, Duangrurdee ; Bang, Marie-Louise ; Centner, Thomas ; Hanefeld, Folker ; Odent, Sylvie ; Fardeau, Michel ; Urtizberea, J. Andoni ; Muntoni, Francesco ; Dubowitz, Victor ; Beggs, Alan H. ; Laing, Nigel G. ; Labeit, Siegfried ; de la Chapelle, Albert ; Wallgren-Pettersson, Carina
Publisher:United States: National Academy of Sciences of the United States of America
Journal title:Proceedings of the National Academy of Sciences - PNAS, 1999-03, Vol.96 (5), p.2305-2310
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A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array
Author / Creator:Kiiski, Kirsi ; Lehtokari, Vilma-Lotta ; Löytynoja, Ari ; Ahlstén, Liina ; Laitila, Jenni ; Wallgren-Pettersson, Carina ; Pelin, Katarina
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.574-580
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ArticlesPeer ReviewedFull Text
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region
Author / Creator:Sagath, Lydia ; Lehtokari, Vilma-Lotta ; Pelin, Katarina ; Kiiski, Kirsi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-05, Vol.13 (5), p.905
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Author / Creator:Yuen, Michaela ; Sandaradura, Sarah A ; Dowling, James J ; Kostyukova, Alla S ; Moroz, Natalia ; Quinlan, Kate G ; Lehtokari, Vilma-Lotta ; Ravenscroft, Gianina ; Todd, Emily J ; Ceyhan-Birsoy, Ozge ; Gokhin, David S ; Maluenda, Jérome ; Lek, Monkol ; Nolent, Flora ; Pappas, Christopher T ; Novak, Stefanie M ; D'Amico, Adele ; Malfatti, Edoardo ; Thomas, Brett P ; Gabriel, Stacey B ; Gupta, Namrata ; Daly, Mark J ; Ilkovski, Biljana ; Houweling, Peter J ; Davidson, Ann E ; Swanson, Lindsay C ; Brownstein, Catherine A ; Gupta, Vandana A ; Medne, Livija ; Shannon, Patrick ; Martin, Nicole ; Bick, David P ; Flisberg, Anders ; Holmberg, Eva ; Van den Bergh, Peter ; Lapunzina, Pablo ; Waddell, Leigh B ; Sloboda, Darcée D ; Bertini, Enrico ; Chitayat, David ; Telfer, William R ; Laquerrière, Annie ; Gregorio, Carol C ; Ottenheijm, Coen A C ; Bönnemann, Carsten G ; Pelin, Katarina ; Beggs, Alan H ; Hayashi, Yukiko K ; Romero, Norma B ; Laing, Nigel G ; Nishino, Ichizo ; Wallgren-Pettersson, Carina ; Melki, Judith ; Fowler, Velia M ; MacArthur, Daniel G ; North, Kathryn N ; Clarke, Nigel F
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
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Two alternatively-spliced human nebulin isoforms with either exon 143 or exon 144 and their developmental regulation
Author / Creator:Lam, Le Thanh ; Holt, Ian ; Laitila, Jenni ; Hanif, Mubashir ; Pelin, Katarina ; Wallgren-Pettersson, Carina ; Sewry, Caroline A. ; Morris, Glenn E.
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2018-10, Vol.8 (1), p.15728-10, Article 15728
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Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations
Author / Creator:Marttila, Minttu ; Hanif, Mubashir ; Lemola, Elina ; Nowak, Kristen J ; Laitila, Jenni ; Grönholm, Mikaela ; Wallgren-Pettersson, Carina ; Pelin, Katarina
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2014-08, Vol.4 (1), p.15-15, Article 15
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Author / Creator:Yuen, Michaela ; Sandaradura, Sarah A ; Dowling, James J ; Kostyukova, Alla S ; Moroz, Natalia ; Quinlan, Kate G ; Lehtokari, Vilma-Lotta ; Ravenscroft, Gianina ; Todd, Emily J ; Ceyhan-Birsoy, Ozge ; Gokhin, David S ; Maluenda, Jérome ; Lek, Monkol ; Nolent, Flora ; Pappas, Christopher T ; Novak, Stefanie M ; D'Amico, Adele ; Malfatti, Edoardo ; Thomas, Brett P ; Gabriel, Stacey B ; Gupta, Namrata ; Daly, Mark J ; Ilkovski, Biljana ; Houweling, Peter J ; Davidson, Ann E ; Swanson, Lindsay C ; Brownstein, Catherine A ; Gupta, Vandana A ; Medne, Livija ; Shannon, Patrick ; Martin, Nicole ; Bick, David P ; Flisberg, Anders ; Holmberg, Eva ; Van den Bergh, Peter ; Lapunzina, Pablo ; Waddell, Leigh B ; Sloboda, Darcée D ; Bertini, Enrico ; Chitayat, David ; Telfer, William R ; Laquerrière, Annie ; Gregorio, Carol C ; Ottenheijm, Coen A C ; Bönnemann, Carsten G ; Pelin, Katarina ; Beggs, Alan H ; Hayashi, Yukiko K ; Romero, Norma B ; Laing, Nigel G ; Nishino, Ichizo ; Wallgren-Pettersson, Carina ; Melki, Judith ; Fowler, Velia M ; MacArthur, Daniel G ; North, Kathryn N ; Clarke, Nigel F
Publisher:United States: American Society for Clinical Investigation
Journal title:The Journal of clinical investigation, 2015-01, Vol.125 (1), p.456-457
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
Author / Creator:Malfatti, Edoardo ; Lehtokari, Vilma-Lotta ; Böhm, Johann ; De Winter, Josine M ; Schäffer, Ursula ; Estournet, Brigitte ; Quijano-Roy, Susana ; Monges, Soledad ; Lubieniecki, Fabiana ; Bellance, Remi ; Viou, Mai Thao ; Madelaine, Angéline ; Wu, Bin ; Taratuto, Ana Lía ; Eymard, Bruno ; Pelin, Katarina ; Fardeau, Michel ; Ottenheijm, Coen A C ; Wallgren-Pettersson, Carina ; Laporte, Jocelyn ; Romero, Norma B
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2014-04, Vol.2 (1), p.44-44, Article 44
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Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
Author / Creator:Lehtokari, Vilma-Lotta ; Pelin, Katarina ; Sandbacka, Maria ; Ranta, Salla ; Donner, Kati ; Muntoni, Francesco ; Sewry, Caroline ; Angelini, Corrado ; Bushby, Kate ; Van den Bergh, Peter ; Iannaccone, Susan ; Laing, Nigel G. ; Wallgren-Pettersson, Carina
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2006-09, Vol.27 (9), p.946-956
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A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Author / Creator:Hemminki, Akseli ; Markie, David ; Tomlinson, Ian ; Avizienyte, Egle ; Roth, Stina ; Loukola, Anu ; Bignell, Graham ; Warren, William ; Aminoff, Maria ; Höglund, Pia ; Järvinen, Heikki ; Kristo, Paula ; Pelin, Katarina ; Ridanpää, Maaret ; Salovaara, Reijo ; Toro, Tumi ; Bodmer, Walter ; Olschwang, Sylviane ; Olsen, Anne S. ; Stratton, Michael R. ; de la Chapelle, Albert ; Aaltonen, Lauri A.
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 1998-01, Vol.391 (6663), p.184-187
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Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
Author / Creator:Lehtokari, Vilma-Lotta ; Pelin, Katarina ; Donner, Kati ; Voit, Thomas ; Rudnik-Schöneborn, Sabine ; Stoetter, Mechthild ; Talim, Beril ; Topaloglu, Haluk ; Laing, Nigel G ; Wallgren-Pettersson, Carina
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2008-09, Vol.16 (9), p.1055-1061
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A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
Author / Creator:Hemminki, Akseli ; Markie, David ; Tomlinson, Ian ; Avizienyte, Egle ; Roth, Stina ; Loukola, Anu ; Bignell, Graham ; Warren, William ; Aminoff, Maria ; Höglund, Pia ; Järvinen, Heikki ; Kristo, Paula ; Pelin, Katarina ; Ridanpää, Maaret ; Salovaara, Reijo ; Toro, Tumi ; Bodmer, Walter ; Olschwang, Sylviane ; Olsen, Anne S. ; Stratton, Michael R. ; de la Chapelle, Albert ; Aaltonen, Lauri A.
Journal title:Nature (London), 1998-01, Vol.391 (6663), p.184-187
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A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region

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Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

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

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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 weaknes...

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

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

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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

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

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Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region

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

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

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

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

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

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

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

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

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

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