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American journal of human genetics, 2013-06, Vol.92 (6), p.965-973
- Oates, Emily C.
- Rossor, Alexander M.
- Hafezparast, Majid
- Gonzalez, Michael
- Speziani, Fiorella
- MacArthur, Daniel G.
- Lek, Monkol
- Cottenie, Ellen
- Scoto, Mariacristina
- Foley, A. Reghan
- Hurles, Matthew
- Houlden, Henry
- Greensmith, Linda
- Auer-Grumbach, Michaela
- Pieber, Thomas R.
- Strom, Tim M.
- Schule, Rebecca
- Herrmann, David N.
- Sowden, Janet E.
- Acsadi, Gyula
- Menezes, Manoj P.
- Clarke, Nigel F.
- Züchner, Stephan
- Muntoni, Francesco
- North, Kathryn N.
- Reilly, Mary M.
2013
Link zum Volltext
American journal of human genetics, 2016-11, Vol.99 (5), p.1086-1105
- O’Grady, Gina L.
- Best, Heather A.
- Sztal, Tamar E.
- Schartner, Vanessa
- Sanjuan-Vazquez, Myriam
- Donkervoort, Sandra
- Abath Neto, Osorio
- Sutton, Roger Bryan
- Ilkovski, Biljana
- Romero, Norma Beatriz
- Stojkovic, Tanya
- Dastgir, Jahannaz
- Waddell, Leigh B.
- Boland, Anne
- Hu, Ying
- Williams, Caitlin
- Ruparelia, Avnika A.
- Maisonobe, Thierry
- Peduto, Anthony J.
- Reddel, Stephen W.
- Lek, Monkol
- Tukiainen, Taru
- Cummings, Beryl B.
- Joshi, Himanshu
- Nectoux, Juliette
- Brammah, Susan
- Deleuze, Jean-François
- Ing, Viola Oorschot
- Ramm, Georg
- Ardicli, Didem
- Nowak, Kristen J.
- Talim, Beril
- Topaloglu, Haluk
- Laing, Nigel G.
- North, Kathryn N.
- MacArthur, Daniel G.
- Friant, Sylvie
- Clarke, Nigel F.
- Bryson-Richardson, Robert J.
- Bönnemann, Carsten G.
- Laporte, Jocelyn
- Cooper, Sandra T.
2016
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Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.117-117, Article 117
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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Annals of neurology, 2016-06, Vol.79 (6), p.959-969
- 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.
2016
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Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.500-503
2016
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Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.264-271
2011
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Human mutation, 2010-07, Vol.31 (7), p.E1544-E1550
2010
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Annals of neurology, 2008-03, Vol.63 (3), p.329-337
2008
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NPJ Genomic Medicine, 2017-03, Vol.2 (1), p.1-7, Article 4
2017
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Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.432-436
2013
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Science translational medicine, 2017-04, Vol.9 (386)
- Cummings, Beryl B
- Marshall, Jamie L
- Tukiainen, Taru
- Lek, Monkol
- Donkervoort, Sandra
- Foley, A Reghan
- Bolduc, Veronique
- Waddell, Leigh B
- Sandaradura, Sarah A
- O'Grady, Gina L
- Estrella, Elicia
- Reddy, Hemakumar M
- Zhao, Fengmei
- Weisburd, Ben
- Karczewski, Konrad J
- O'Donnell-Luria, Anne H
- Birnbaum, Daniel
- Sarkozy, Anna
- Hu, Ying
- Gonorazky, Hernan
- Claeys, Kristl
- Joshi, Himanshu
- Bournazos, Adam
- Oates, Emily C
- Ghaoui, Roula
- Davis, Mark R
- Laing, Nigel G
- Topf, Ana
- Kang, Peter B
- Beggs, Alan H
- North, Kathryn N
- Straub, Volker
- Dowling, James J
- Muntoni, Francesco
- Clarke, Nigel F
- Cooper, Sandra T
- Bönnemann, Carsten G
- MacArthur, Daniel G
2017
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JAMA neurology, 2015-12, Vol.72 (12), p.1424
2015
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European journal of human genetics : EJHG, 2011-04, Vol.19 (4), p.452-457
2011
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Brain (London, England : 1878), 2012-06, Vol.135 (Pt 6), p.1714-1723
2012
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Annals of neurology, 2007-06, Vol.61 (6), p.552-561
2007
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Annals of neurology, 2018-06, Vol.83 (6), p.1105-1124
- Oates, Emily C.
- Jones, Kristi J.
- Donkervoort, Sandra
- Charlton, Amanda
- Brammah, Susan
- Smith, John E.
- Ware, James S.
- Yau, Kyle S.
- Swanson, Lindsay C.
- Whiffin, Nicola
- Peduto, Anthony J.
- Bournazos, Adam
- Waddell, Leigh B.
- Farrar, Michelle A.
- Sampaio, Hugo A.
- Teoh, Hooi Ling
- Lamont, Phillipa J.
- Mowat, David
- Fitzsimons, Robin B.
- Corbett, Alastair J.
- Ryan, Monique M.
- O'Grady, Gina L.
- Sandaradura, Sarah A.
- Ghaoui, Roula
- Joshi, Himanshu
- Marshall, Jamie L.
- Nolan, Melinda A.
- Kaur, Simranpreet
- Punetha, Jaya
- Töpf, Ana
- Harris, Elizabeth
- Bakshi, Madhura
- Genetti, Casie A.
- Marttila, Minttu
- Werlauff, Ulla
- Streichenberger, Nathalie
- Pestronk, Alan
- Mazanti, Ingrid
- Pinner, Jason R.
- Vuillerot, Carole
- Grosmann, Carla
- Camacho, Ana
- Mohassel, Payam
- Leach, Meganne E.
- Foley, A. Reghan
- Bharucha‐Goebel, Diana
- Collins, James
- Connolly, Anne M.
- Gilbreath, Heather R.
- Iannaccone, Susan T.
- Castro, Diana
- Cummings, Beryl B.
- Webster, Richard I.
- Lazaro, Leïla
- Vissing, John
- Coppens, Sandra
- Deconinck, Nicolas
- Luk, Ho‐Ming
- Thomas, Neil H.
- Foulds, Nicola C.
- Illingworth, Marjorie A.
- Ellard, Sian
- McLean, Catriona A.
- Phadke, Rahul
- Ravenscroft, Gianina
- Witting, Nanna
- Hackman, Peter
- Richard, Isabelle
- Cooper, Sandra T.
- Kamsteeg, Erik‐Jan
- Hoffman, Eric P.
- Bushby, Kate
- Straub, Volker
- Udd, Bjarne
- Ferreiro, Ana
- North, Kathryn N.
- Clarke, Nigel F.
- Lek, Monkol
- Beggs, Alan H.
- Bönnemann, Carsten G.
- MacArthur, Daniel G.
- Granzier, Henk
- Davis, Mark R.
- Laing, Nigel G.
2018
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Annals of neurology, 2016-07, Vol.80 (1), p.101-111
2016
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American journal of human genetics, 2013-12, Vol.93 (6), p.1108-1117
- Gupta, Vandana A.
- Ravenscroft, Gianina
- Shaheen, Ranad
- Todd, Emily J.
- Swanson, Lindsay C.
- Shiina, Masaaki
- Ogata, Kazuhiro
- Hsu, Cynthia
- Clarke, Nigel F.
- Darras, Basil T.
- Farrar, Michelle A.
- Hashem, Amal
- Manton, Nicholas D.
- Muntoni, Francesco
- North, Kathryn N.
- Sandaradura, Sarah A.
- Nishino, Ichizo
- Hayashi, Yukiko K.
- Sewry, Caroline A.
- Thompson, Elizabeth M.
- Yau, Kyle S.
- Brownstein, Catherine A.
- Yu, Timothy W.
- Allcock, Richard J.N.
- Davis, Mark R.
- Wallgren-Pettersson, Carina
- Matsumoto, Naomichi
- Alkuraya, Fowzan S.
- Laing, Nigel G.
- Beggs, Alan H.
2013
Link zum Volltext
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
Link zum Volltext
Human mutation, 2014-12, Vol.35 (12), p.1418-1426
- 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
2014
Link zum Volltext
The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4693-4708
- 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
2014
Link zum Volltext
Trends in molecular medicine, 2012-11, Vol.18 (11), p.644-657
2012
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Current opinion in neurology, 2013-10, Vol.26 (5), p.519-526
2013
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Handbook of Clinical Neurology, 2013, Vol.113, p.1321-1336
2013
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