A custom ddPCR method for the detection of copy number variations in the nebulin triplicate region von Sagath, Lydia, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina, Kiiski, Kirsi

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Nebulin: Size matters for optimal muscle function von Pelin, Katarina

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

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Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene von Kiiski, Kirsi J., Lehtokari, Vilma-Lotta, Vihola, Anna K., Laitila, Jenni M., Huovinen, Sanna, Sagath, Lydia J., Evilä, Anni E., Paetau, Anders E., Sewry, Caroline A., Hackman, Peter B., Pelin, Katarina B., Wallgren-Pettersson, Carina, Udd, Bjarne

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Mutation-specific effects on thin filament length in thin filament myopathy von Winter, Josine M. de, Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., Engelen, Baziel G. van, Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.

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Mutations in the RNA Component of RNase MRP Cause a Pleiotropic Human Disease, Cartilage-Hair Hypoplasia von Ridanpää, Maaret, van Eenennaam, Hans, Pelin, Katarina, Chadwick, Robert, Johnson, Cheryl, Yuan, Bo, vanVenrooij, Walther, Pruijn, Ger, Salmela, Riika, Rockas, Susanna, Mäkitie, Outi, Kaitila, Ilkka, de la Chapelle, Albert

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Identification of muscle specific ring finger proteins as potential regulators of the titin kinase domain von Centner, Thomas, Yano, Junko, Kimura, Eiichi, McElhinny, Abigail S, Pelin, Katarina, Witt, Christian C, Bang, Marie-Louise, Trombitas, Karoly, Granzier, Henk, Gregorio, Carol C, Sorimachi, Hiroyuki, Labeit, Siegfried

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Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy von Lehtokari, Vilma-Lotta, Pelin, Katarina, Herczegfalvi, Agnes, Karcagi, Veronika, Pouget, Jean, Franques, Jerôme, Pellissier, Jean François, Figarella-Branger, Dominique, von der Hagen, Maja, Huebner, Angela, Schoser, Benedikt, Lochmüller, Hanns, Wallgren-Pettersson, Carina

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Update on the Genetics of Congenital Myopathies von Pelin, Katarina, Wallgren-Pettersson, Carina

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Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts von Donner, Kati, Sandbacka, Maria, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina, Pelin, Katarina

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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 genera... von Pelin, Katarina, Kiiski, Kirsi, Lehtokari, Vilma-Lotta, Wallgren-Pettersson, Carina

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

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P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies von DiStefano, Marina, Webb, Ryan, McCurry, Hannah, McNulty Gray, Shannon, Tomar, Swati, Kopparapu, Prasad, Broeren, Eleanor, Tshering, Kezang, Beggs, Alan, Bertini, Enrico Silvio, D'Amico, Adele, Donkervoort, Sandra, Dowling, James, Fattori, Fabiana, Ferreiro, Ana, Genetti, Casie, Gonorazky, Hernan, Gorokhova, Svetlana, Lindy, Amanda, Medne, Livija, Pajusalu, Sander, Pelin, Katarina, Rendu, John, Vatta, Matteo, Winder, Tom, Yang, Hui, Yoon, Grace, Ceyhan-Birsoy, Ozge, Bönnemann, Carsten

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Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy von Lawlor, Michael W, Ottenheijm, Coen A, Lehtokari, Vilma-Lotta, Cho, Kiyomi, Pelin, Katarina, Wallgren-Pettersson, Carina, Granzier, Henk, Beggs, Alan H

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Nebulin is not expressed in plants von Pelin, Katarina

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Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy von 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

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Approach to the diagnosis of congenital myopathies von North, Kathryn N, Wang, Ching H, Clarke, Nigel, Jungbluth, Heinz, Vainzof, Mariz, Dowling, James J, Amburgey, Kimberly, Quijano-Roy, Susana, Beggs, Alan H, Sewry, Caroline, Laing, Nigel G, Bönnemann, Carsten G

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Mutations in the nebulin gene can cause severe congenital nemaline myopathy von Wallgren-Pettersson, Carina, Donner, Kati, Sewry, Caroline, Bijlsma, Emilia, Lammens, Martin, Bushby, Kate, Giovannucci Uzielli, Maria Luisa, Lapi, Elisabetta, Odent, Sylvie, Akcoren, Zuhal, Topaloğlu, Haluk, Pelin, Katarina

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Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia von Wallgren-Pettersson, Carina, Jokela, Manu, Lehtokari, Vilma-Lotta, Tyynismaa, Henna, Sainio, Markus T, Ylikallio, Emil, Tynninen, Olli, Pelin, Katarina, Auranen, Mari

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Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region von Sagath, Lydia, Lehtokari, Vilma-Lotta, Pelin, Katarina, Kiiski, Kirsi

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