Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Autor: 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.

Publikováno v: In The American Journal of Human Genetics 11 July 2013 93(1):6-18

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

Autor: 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

Publikováno v: Journal of Clinical Investigation, 125(1), 456-7. The American Society for Clinical Investigation
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, 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, Sloboda, D D, Bertini, E, Chitayat, D, Telfer, W R, Laquerrière, A, Gregorio, C C, Ottenheijm, C A C, Bönnemann, 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 2015, ' Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy : corrigendum ', Journal of Clinical Investigation, vol. 125, no. 1, pp. 456-7 . https://doi.org/10.1172/JCI80057

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::fe68ba80589aa6f7982cf9a5dc0d47b4
https://research.vumc.nl/en/publications/3489a958-9b95-42af-8646-b874124d492f

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Autor: Ravenscroft, Gianina, Thompson, Elizabeth M., Todd, Emily J., Yau, Kyle S., Kresoje, Nina, Sivadorai, Padma, Friend, Kathryn, Riley, Kate, Manton, Nicholas D., Blumbergs, Peter, Fietz, Michael, Duff, Rachael M., Davis, Mark R., Allcock, Richard J., Laing, Nigel G.

Publikováno v: In Neuromuscular Disorders February 2013 23(2):165-169

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Expressing a Z-disk nebulin fragment in nebulin-deficient mouse muscle: effects on muscle structure and function.

Autor: Li, Frank¹ (AUTHOR), Kolb, Justin¹ (AUTHOR), Crudele, Julie² (AUTHOR), Hourani, Zaynab¹ (AUTHOR), Smith III, John E.¹ (AUTHOR), Chamberlain, Jeffrey S.² (AUTHOR), Granzier, Henk^1,3 (AUTHOR) granzier@email.arizona.edu

Publikováno v: Skeletal Muscle. 1/28/2020, Vol. 10 Issue 1, p1-20. 20p.