Nemaline myopathies: a current view
Sewry, Caroline A., Laitila, Jenni M., Wallgren-Pettersson, Carina
Published in Journal of muscle research and cell motility (01.06.2019)
Published in Journal of muscle research and cell motility (01.06.2019)
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Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction
Jungbluth, Heinz, Treves, Susan, Zorzato, Francesco, Sarkozy, Anna, Ochala, Julien, Sewry, Caroline, Phadke, Rahul, Gautel, Mathias, Muntoni, Francesco
Published in Nature reviews. Neurology (01.03.2018)
Published in Nature reviews. Neurology (01.03.2018)
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Nesprins: tissue-specific expression of epsilon and other short isoforms
Duong, Nguyen Thuy, Morris, Glenn E, Lam, Le Thanh, Zhang, Qiuping, Sewry, Caroline A, Shanahan, Catherine M, Holt, Ian
Published in PloS one (01.04.2014)
Published in PloS one (01.04.2014)
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn
Published in Acta neuropathologica (01.04.2017)
Published in Acta neuropathologica (01.04.2017)
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Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies
Janghra, Narinder, Morgan, Jennifer E, Sewry, Caroline A, Wilson, Francis X, Davies, Kay E, Muntoni, Francesco, Tinsley, Jonathon
Published in PloS one (14.03.2016)
Published in PloS one (14.03.2016)
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Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Stevens, Elizabeth, Carss, Keren J., Cirak, Sebahattin, Foley, A. Reghan, Torelli, Silvia, Willer, Tobias, Tambunan, Dimira E., Yau, Shu, Brodd, Lina, Sewry, Caroline A., Feng, Lucy, Haliloglu, Goknur, Orhan, Diclehan, Dobyns, William B., Enns, Gregory M., Manning, Melanie, Krause, Amanda, Salih, Mustafa A., Walsh, Christopher A., Hurles, Matthew, Campbell, Kevin P., Manzini, M. Chiara, Stemple, Derek, Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (07.03.2013)
Published in American journal of human genetics (07.03.2013)
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Lawlor, Michael W., Beggs, Alan H., Buj-Bello, Ana, Childers, Martin K., Dowling, James J., James, Emma S., Meng, Hui, Moore, Steven A., Prasad, Suyash, Schoser, Benedikt, Sewry, Caroline A.
Published in Journal of neuropathology and experimental neurology (01.02.2016)
Published in Journal of neuropathology and experimental neurology (01.02.2016)
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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study
Cirak, Sebahattin, MD, Arechavala-Gomeza, Virginia, PhD, Guglieri, Michela, MD, Feng, Lucy, PhD, Torelli, Silvia, PhD, Anthony, Karen, PhD, Abbs, Stephen, PhD, Garralda, Maria Elena, Prof, Bourke, John, MD, Wells, Dominic J, Prof, Dickson, George, Prof, Wood, Matthew JA, MD PhD, Wilton, Steve D, Prof, Straub, Volker, Prof, Kole, Ryszard, Prof, Shrewsbury, Stephen B, MD, Sewry, Caroline, Prof, Morgan, Jennifer E, PhD, Bushby, Kate, Prof, Muntoni, Francesco, Prof
Published in The Lancet (British edition) (13.08.2011)
Published in The Lancet (British edition) (13.08.2011)
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Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings
Zambon, Alberto A., Abel, François, Linnane, Barry, O'Rourke, Declan, Phadke, Rahul, Sewry, Caroline A, Sarkozy, Anna, Manzur, Adnan, Muntoni, Francesco
Published in Neuromuscular disorders : NMD (01.03.2022)
Published in Neuromuscular disorders : NMD (01.03.2022)
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Nemaline Myopathies
Wallgren-Pettersson, Carina, MD, Sewry, Caroline A., PhD, Nowak, Kristen J., PhD, Laing, Nigel G., PhD
Published in Seminars in pediatric neurology (01.12.2011)
Published in Seminars in pediatric neurology (01.12.2011)
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Core Myopathies
Jungbluth, Heinz, MD, PhD, Sewry, Caroline A., PhD, Muntoni, Francesco, MD
Published in Seminars in pediatric neurology (01.12.2011)
Published in Seminars in pediatric neurology (01.12.2011)
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Diagnostic approach to the congenital muscular dystrophies
Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N
Published in Neuromuscular disorders : NMD (01.04.2014)
Published in Neuromuscular disorders : NMD (01.04.2014)
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Conference Proceeding
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
Selcen, Duygu, Muntoni, Francesco, Burton, Barbara K., Pegoraro, Elena, Sewry, Caroline, Bite, Anna V., Engel, Andrew G.
Published in Annals of neurology (01.01.2009)
Published in Annals of neurology (01.01.2009)
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Cullup, Thomas, Kho, Ay Lin, Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F, Wijburg, Frits A, ten Hoedt, Amber E, Rogers, R Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M, Windpassinger, Christian, Filloux, Francis M, Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A, Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Published in Nature genetics (01.01.2013)
Published in Nature genetics (01.01.2013)
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
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.
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy
Zaharieva, Irina T, Thor, Michael G, Oates, Emily C, van Karnebeek, Clara, Hendson, Glenda, Blom, Eveline, Witting, Nanna, Rasmussen, Magnhild, Gabbett, Michael T, Ravenscroft, Gianina, Sframeli, Maria, Suetterlin, Karen, Sarkozy, Anna, D'Argenzio, Luigi, Hartley, Louise, Matthews, Emma, Pitt, Matthew, Vissing, John, Ballegaard, Martin, Krarup, Christian, Slørdahl, Andreas, Halvorsen, Hanne, Ye, Xin Cynthia, Zhang, Lin-Hua, Løkken, Nicoline, Werlauff, Ulla, Abdelsayed, Mena, Davis, Mark R, Feng, Lucy, Phadke, Rahul, Sewry, Caroline A, Morgan, Jennifer E, Laing, Nigel G, Vallance, Hilary, Ruben, Peter, Hanna, Michael G, Lewis, Suzanne, Kamsteeg, Erik-Jan, Männikkö, Roope, Muntoni, Francesco
Published in Brain (London, England : 1878) (01.03.2016)
Published in Brain (London, England : 1878) (01.03.2016)
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Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study
Kinali, Maria, MD, Arechavala-Gomeza, Virginia, PhD, Feng, Lucy, PhD, Cirak, Sebahattin, MD, Hunt, David, FRCS, Adkin, Carl, PhD, Guglieri, Michela, MD, Ashton, Emma, PhD, Abbs, Stephen, PhD, Nihoyannopoulos, Petros, MD, Garralda, Maria Elena, MD, Rutherford, Mary, MD, Mcculley, Caroline, PhD, Popplewell, Linda, PhD, Graham, Ian R, PhD, Dickson, George, PhD, Wood, Matthew JA, MD, Wells, Dominic J, PhD, Wilton, Steve D, PhD, Kole, Ryszard, PhD, Straub, Volker, MD, Bushby, Kate, MD, Sewry, Caroline, PhD, Morgan, Jennifer E, PhD, Muntoni, Francesco, MD
Published in Lancet neurology (01.10.2009)
Published in Lancet neurology (01.10.2009)
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Journal Article
Dystrophin quantification: Biological and translational research implications
Anthony, Karen, Arechavala-Gomeza, Virginia, Taylor, Laura E, Vulin, Adeline, Kaminoh, Yuuki, Torelli, Silvia, Feng, Lucy, Janghra, Narinder, Bonne, Gisèle, Beuvin, Maud, Barresi, Rita, Henderson, Matt, Laval, Steven, Lourbakos, Afrodite, Campion, Giles, Straub, Volker, Voit, Thomas, Sewry, Caroline A, Morgan, Jennifer E, Flanigan, Kevin M, Muntoni, Francesco
Published in Neurology (25.11.2014)
Published in Neurology (25.11.2014)
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