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Journal of muscle research and cell motility, 2019-06, Vol.40 (2), p.111-126
2019
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Neuromuscular disorders : NMD, 2021-10, Vol.31 (10), p.925-930
2021
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Nature reviews. Neurology, 2018-03, Vol.14 (3), p.151
2018
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5, 2020
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PloS one, 2014-04, Vol.9 (4), p.e94380-e94380
2014
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PloS one, 2016-03, Vol.11 (3), p.e0150818-e0150818
2016
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Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533
- 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
2017
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American journal of human genetics, 2013-03, Vol.92 (3), p.354-365
- 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
2013
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The Lancet (British edition), 2011-08, Vol.378 (9791), p.595-605
- 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
2011
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Acta neuropathologica, 2010-09, Vol.120 (3), p.343-358
2010
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Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311
2014
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Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.230-238
2011
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Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.239-249
2011
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Neuromuscular disorders : NMD, 2022-03, Vol.32 (3), p.245-254
2022
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Annals of neurology, 2009-01, Vol.65 (1), p.83-89
2009
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Lancet neurology, 2009-10, Vol.8 (10), p.918-928
- 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
2009
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Nature genetics, 2013-01, Vol.45 (1), p.83-87
- 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
2013
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Annals of neurology, 2008-08, Vol.64 (2), p.177-186
- Quijano-Roy, Susana
- Mbieleu, Blaise
- Bönnemann, Carsten G.
- Jeannet, Pierre-Yves
- Colomer, Jaume
- Clarke, Nigel F.
- Cuisset, Jean-Marie
- Roper, Helen
- De Meirleir, Linda
- D'Amico, Adele
- Ben Yaou, Rabah
- Nascimento, Andrés
- Barois, Annie
- Demay, Laurence
- Bertini, Enrico
- Ferreiro, Ana
- Sewry, Caroline A.
- Romero, Norma B.
- Ryan, Monique
- Muntoni, Francesco
- Guicheney, Pascale
- Richard, Pascale
- Bonne, Gisèle
- Estournet, Brigitte
2008
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Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735
- Godfrey, Caroline
- Clement, Emma
- Mein, Rachael
- Brockington, Martin
- Smith, Janine
- Talim, Beril
- Straub, Volker
- Robb, Stephanie
- Quinlivan, Ros
- Feng, Lucy
- Jimenez-Mallebrera, Cecilia
- Mercuri, Eugenio
- Manzur, Adnan Y.
- Kinali, Maria
- Torelli, Silvia
- Brown, Susan C.
- Sewry, Caroline A.
- Bushby, Kate
- Topaloglu, Haluk
- North, Kathryn
- Abbs, Stephen
- Muntoni, Francesco
2007
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American journal of human genetics, 2013-07, Vol.93 (1), p.6-18
- 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.
2013
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Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.674-691
- 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
2016
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Neurology, 2014-11, Vol.83 (22), p.2062
- 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
2014
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Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.269-281
- CIRAK, Sebahattin
- REGHAN FOLEY, Aileen
- ROPER, Helen
- LONGMAN, Cheryl
- KORINTHENBERG, Rudolf
- MARROSU, Gianni
- NÜRNBERG, Peter
- MICHELE, Daniel E
- PLAGNOL, Vincent
- HURLES, Matt
- MOORE, Steven A
- SEWRY, Caroline A
- HERRMANN, Ralf
- CAMPBELL, Kevin P
- VOIT, Thomas
- MUNTONI, Francesco
- WILLER, Tobias
- YAU, Shu
- STEVENS, Elizabeth
- TORELLI, Silvia
- BRODD, Lina
- KAMYNINA, Alisa
- VONDRACEK, Petr
2013
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Scientific reports, 2019-10, Vol.9 (1), p.14202-12, Article 14202
2019
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Brain (London, England : 1878), 2015-02, Vol.138 (Pt 2), p.293-310
- Rossor, Alexander M
- Oates, Emily C
- Salter, Hannah K
- Liu, Yang
- Murphy, Sinead M
- Schule, Rebecca
- Gonzalez, Michael A
- Scoto, Mariacristina
- Phadke, Rahul
- Sewry, Caroline A
- Houlden, Henry
- Jordanova, Albena
- Tournev, Iyailo
- Chamova, Teodora
- Litvinenko, Ivan
- Zuchner, Stephan
- Herrmann, David N
- Blake, Julian
- Sowden, Janet E
- Acsadi, Gyuda
- Rodriguez, Michael L
- Menezes, Manoj P
- Clarke, Nigel F
- Auer Grumbach, Michaela
- Bullock, Simon L
- Muntoni, Francesco
- Reilly, Mary M
- North, Kathryn N
2015
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