Other specified and unspecified feeding or eating disorders among women in the community von Mustelin, Linda, Lehtokari, Vilma-Lotta, Keski-Rahkonen, Anna

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Self-reported functioning among patients with ultra-rare nemaline myopathy or a related disorder in Finland: a pilot study von Lehtokari, Vilma-Lotta, Similä, Minna, Tammepuu, Marianne, Wallgren-Pettersson, Carina, Strang-Karlsson, Sonja, Hiekkala, Sinikka

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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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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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Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies von Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T., Beggs, Alan H., Clarke, Nigel F., North, Kathryn N., Laing, Nigel G., Romero, Norma B., Winder, Thomas L., Pelin, Katarina, Wallgren-Pettersson, Carina

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Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies von Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, Özge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina

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Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report von Pelin, Katarina, Sagath, Lydia, Lehtonen, Johanna, Kiiski, Kirsi, Tynninen, Olli, Paetau, Anders, Johari, Mridul, Savarese, Marco, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta

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Disrupted myosin cross‐bridge cycling kinetics triggers muscle weakness in nebulin‐related myopathy von Ochala, Julien, Lehtokari, Vilma‐Lotta, Iwamoto, Hiroyuki, Li, Meishan, Feng, Han‐Zhong, Jin, Jian‐Ping, Yagi, Naoto, Wallgren‐Pettersson, Carina, Pénisson‐Besnier, Isabelle, Larsson, Lars

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Distal myopathy caused by homozygous missense mutations in the nebulin gene von Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Kalimo, Hannu, Paetau, Anders, Nuutinen, Elina, Hackman, Peter, Sewry, Caroline, Pelin, Katarina, Udd, Bjarne

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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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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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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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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy von Ravenscroft, Gianina, Miyatake, Satoko, Lehtokari, Vilma-Lotta, Todd, Emily J., Vornanen, Pauliina, Yau, Kyle S., Hayashi, Yukiko K., Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Saitsu, Hirotomo, Osaka, Hitoshi, Yamashita, Sumimasa, Ohya, Takashi, Sakamoto, Yuko, Koshimizu, Eriko, Imamura, Shintaro, Yamashita, Michiaki, Ogata, Kazuhiro, Shiina, Masaaki, Bryson-Richardson, Robert J., Vaz, Raquel, Ceyhan, Ozge, Brownstein, Catherine A., Swanson, Lindsay C., Monnot, Sophie, Romero, Norma B., Amthor, Helge, Kresoje, Nina, Sivadorai, Padma, Kiraly-Borri, Cathy, Haliloglu, Goknur, Talim, Beril, Orhan, Diclehan, Kale, Gulsev, Charles, Adrian K., Fabian, Victoria A., Davis, Mark R., Lammens, Martin, Sewry, Caroline A., Manzur, Adnan, Muntoni, Francesco, Clarke, Nigel F., North, Kathryn N., Bertini, Enrico, Nevo, Yoram, Willichowski, Ekkhard, Silberg, Inger E., Topaloglu, Haluk, Beggs, Alan H., Allcock, Richard J.N., Nishino, Ichizo, Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Laing, Nigel G.

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Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene von Lehtokari, Vilma-Lotta, Gardberg, Maria, Pelin, Katarina, Wallgren-Pettersson, Carina

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Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin von Sagath, Lydia, Lehtokari, Vilma-Lotta, Välipakka, Salla, Vihola, Anna, Gardberg, Maria, Hackman, Peter, Pelin, Katarina, Jokela, Manu, Kiiski, Kirsi, Udd, Bjarne, Wallgren-Pettersson, Carina

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A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array von Kiiski, Kirsi, Lehtokari, Vilma-Lotta, Löytynoja, Ari, Ahlstén, Liina, Laitila, Jenni, Wallgren-Pettersson, Carina, Pelin, Katarina

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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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Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization von Gurgel-Giannetti, Juliana, Souza, Lucas Santos, Yamamoto, Guilherme L, Belisario, Marina, Lazar, Monize, Campos, Wilson, Pavanello, Rita de Cassia M, Zatz, Mayana, Reed, Umbertina, Zanoteli, Edmar, Oliveira, Acary Bulle, Lehtokari, Vilma-Lotta, Casella, Erasmo B, Machado-Costa, Marcela C, Wallgren-Pettersson, Carina, Laing, Nigel G, Nigro, Vincenzo, Vainzof, Mariz

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Cap disease caused by heterozygous deletion of the β-tropomyosin gene TPM2 von Lehtokari, Vilma-Lotta, Ceuterick-de Groote, Chantal, de Jonghe, Peter, Marttila, Minttu, Laing, Nigel G, Pelin, Katarina, Wallgren-Pettersson, Carina

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

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