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PloS one, 2020-10, Vol.15 (10), p.e0240687-e0240687
- Rivera, Sarah R
- Jhamb, Sumit K
- Abdel-Hamid, Hoda Z
- Acsadi, Gyula
- Brandsema, John
- Ciafaloni, Emma
- Darras, Basil T
- Iannaccone, Susan T
- Konersman, Chamindra G
- Kuntz, Nancy L
- McDonald, Craig M
- Parsons, Julie A
- Tesi Rocha, Carolina
- Zaidman, Craig M
- Butterfield, Russell J
- Connolly, Anne M
- Mathews, Katherine D
- Spina, Alfio
2020
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Journal of neuromuscular diseases, 2022-01, Vol.9 (1), p.147-159
2022
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Muscle & nerve, 2011-08, Vol.44 (2), p.174-178
2011
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Journal of clinical medicine, 2023-12, Vol.12 (24), p.7582
2023
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The Journal of pediatrics, 2021-09, Vol.236, p.13-20.e1
2021
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Neurotherapeutics, 2021-04, Vol.18 (2), p.1127-1136
- Rudnicki, Stacy A.
- Andrews, Jinsy A.
- Duong, Tina
- Cockroft, Bettina M.
- Malik, Fady I.
- Meng, Lisa
- Wei, Jenny
- Wolff, Andrew A.
- Genge, Angela
- Johnson, Nicholas E.
- Tesi-Rocha, Carolina
- Connolly, Anne M.
- Darras, Basil T.
- Felice, Kevin
- Finkel, Richard S.
- Shieh, Perry B.
- Mah, Jean K.
- Statland, Jeffrey
- Campbell, Craig
- Habib, Ali A.
- Kuntz, Nancy L.
- Oskoui, Maryam
- Day, John W.
2021
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European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.815-825
- Spitali, Pietro
- Zaharieva, Irina
- Bohringer, Stefan
- Hiller, Monika
- Chaouch, Amina
- Roos, Andreas
- Scotton, Chiara
- Claustres, Mireille
- Bello, Luca
- McDonald, Craig M
- Hoffman, Eric P
- Koeks, Zaida
- Eka Suchiman, H
- Cirak, Sebahattin
- Scoto, Mariacristina
- Reza, Mojgan
- 't Hoen, Peter A C
- Niks, Erik H
- Tuffery-Giraud, Sylvie
- Lochmüller, Hanns
- Ferlini, Alessandra
- Muntoni, Francesco
- Aartsma-Rus, Annemieke
2020
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Nature communications, 2017-01, Vol.8 (1), p.14143-14143, Article 14143
2017
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Neurotherapeutics, 2021-07, Vol.18 (3), p.2130-2130
- Rudnicki, Stacy A.
- Andrews, Jinsy A.
- Duong, Tina
- Cockroft, Bettina M.
- Malik, Fady I.
- Meng, Lisa
- Wei, Jenny
- Wolff, Andrew A.
- Genge, Angela
- Johnson, Nicholas E.
- Tesi-Rocha, Carolina
- Connolly, Anne M.
- Darras, Basil T.
- Felice, Kevin
- Finkel, Richard S.
- Shieh, Perry B.
- Mah, Jean K.
- Statland, Jeffrey
- Campbell, Craig
- Habib, Ali A.
- Kuntz, Nancy L.
- Oskoui, Maryam
- Day, John W.
2021
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American journal of human genetics, 2017-04, Vol.100 (4), p.659-665
- Xue, Shifeng
- Maluenda, Jérôme
- Marguet, Florent
- Shboul, Mohammad
- Quevarec, Loïc
- Bonnard, Carine
- Ng, Alvin Yu Jin
- Tohari, Sumanty
- Tan, Thong Teck
- Kong, Mung Kei
- Monaghan, Kristin G.
- Cho, Megan T.
- Siskind, Carly E.
- Sampson, Jacinda B.
- Rocha, Carolina Tesi
- Alkazaleh, Fawaz
- Gonzales, Marie
- Rigonnot, Luc
- Whalen, Sandra
- Gut, Marta
- Gut, Ivo
- Bucourt, Martine
- Venkatesh, Byrappa
- Laquerrière, Annie
- Reversade, Bruno
- Melki, Judith
2017
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Current neurology and neuroscience reports, 2010-07, Vol.10 (4), p.267-276
2010
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Pediatric neurology, 2015-02, Vol.52 (2), p.239-244
2015
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Journal of clinical medicine, 2023-10, Vol.12 (20), p.6696
2023
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The Journal of pediatrics, 2019-05, Vol.208, p.175-175
2019
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The Journal of pediatrics, 2019-05, Vol.208, p.175
2019
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The Journal of pediatrics, 2019-05, Vol.208, p.175-175
2019
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Annals of neurology, 2005-07, Vol.58 (1), p.151-155
- Escolar, Diana M.
- Buyse, Gunnar
- Henricson, Erik
- Leshner, Robert
- Florence, Julaine
- Mayhew, Jill
- Tesi-Rocha, Carolina
- Gorni, Ksenija
- Pasquali, Livia
- Patel, Kantilal M.
- McCarter, Robert
- Huang, Jennifer
- Mayhew, Thomas
- Bertorini, Tulio
- Carlo, Jose
- Connolly, Anne M.
- Clemens, Paula R.
- Goemans, Nathalie
- Iannaccone, Susan T.
- Igarashi, Masanori
- Nevo, Yoram
- Pestronk, Alan
- Subramony, S. H.
- Vedanarayanan, V. V.
- Wessel, Henry
2005
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The Journal of pediatrics, 2016-03, Vol.170, p.112-112
2016
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The Journal of pediatrics, 2016-03, Vol.170, p.112-112
2016
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The Journal of pediatrics, 2016-03, Vol.170, p.112
2016
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Muscle & nerve, 2011-08, Vol.44 (2), p.170-173
2011
Link zum Volltext
The Lancet (British edition), 2018-02, Vol.391 (10119), p.451-461
- McDonald, Craig M
- Henricson, Erik K
- Abresch, Richard T
- Duong, Tina
- Joyce, Nanette C
- Hu, Fengming
- Clemens, Paula R
- Hoffman, Eric P
- Cnaan, Avital
- Gordish-Dressman, Heather
- Vishwanathan, Vijay
- Chidambaranathan, S
- Biggar, W. Douglas
- McAdam, Laura C.
- Mah, Jean K.
- Tulinius, Mar
- Morgenroth, Lauren P.
- Leshner, Robert
- Tesi-Rocha, Carolina
- Thangarajh, Mathula
- Kornberg, Andrew
- Ryan, Monique
- Nevo, Yoram
- Dubrovsky, Alberto
- Clemens, Paula R.
- Abdel-Hamid, Hoda
- Connolly, Anne M.
- Pestronk, Alan
- Teasley, Jean
- Bertorin, Tulio E.
- Webster, Richard
- Kolski, Hanna
- Kuntz, Nancy
- Driscoll, Sherilyn
- Bodensteiner, John B.
- Carlo, Jose
- Gorni, Ksenija
- Lotze, Timothy
- Day, John W.
- Karachunski, Peter
- Henricson, Erik K.
- Abresch, Richard T.
- Joyce, Nanette C.
- McDonald, Craig M.
2018
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Annals of neurology, 2016-06, Vol.79 (6), p.1031-1037
- Vanderver, Adeline
- Simons, Cas
- Helman, Guy
- Crawford, Joanna
- Wolf, Nicole I.
- Bernard, Geneviève
- Pizzino, Amy
- Schmidt, Johanna L.
- Takanohashi, Asako
- Miller, David
- Khouzam, Amirah
- Rajan, Vani
- Ramos, Erica
- Chowdhury, Shimul
- Hambuch, Tina
- Ru, Kelin
- Baillie, Gregory J.
- Grimmond, Sean M.
- Caldovic, Ljubica
- Devaney, Joseph
- Bloom, Miriam
- Evans, Sarah H.
- Murphy, Jennifer L. P.
- McNeill, Nathan
- Fogel, Brent L.
- Schiffmann, Raphael
- van der Knaap, Marjo S.
- Taft, Ryan J.
2016
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The Journal of pediatrics, 2016, Vol.170, p.112-112
2016
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BMC medical genetics, 2007-08, Vol.8 (1), p.55-55, Article 55
- Uthurralt, Julieta
- Gordish-Dressman, Heather
- Bradbury, Meg
- Tesi-Rocha, Carolina
- Devaney, Joseph
- Harmon, Brennan
- Reeves, Erica K
- Brandoli, Cinzia
- Hansen, Barbara C
- Seip, Richard L
- Thompson, Paul D
- Price, Thomas B
- Angelopoulos, Theodore J
- Clarkson, Priscilla M
- Moyna, Niall M
- Pescatello, Linda S
- Visich, Paul S
- Zoeller, Robert F
- Gordon, Paul M
- Hoffman, Eric P
2007
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