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The New England journal of medicine, 2010-04, Vol.362 (15), p.1396-1406
- van der Ploeg, Ans T
- Clemens, Paula R
- Corzo, Deyanira
- Escolar, Diana M
- Florence, Julaine
- Groeneveld, Geert Jan
- Herson, Serge
- Kishnani, Priya S
- Laforet, Pascal
- Lake, Stephen L
- Lange, Dale J
- Leshner, Robert T
- Mayhew, Jill E
- Morgan, Claire
- Nozaki, Kenkichi
- Park, Dorothy J
- Pestronk, Alan
- Rosenbloom, Barry
- Skrinar, Alison
- van Capelle, Carine I
- van der Beek, Nadine A
- Wasserstein, Melissa
- Zivkovic, Sasa A
2010
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Muscle & nerve, 2012-03, Vol.45 (3), p.319-333
2012
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Journal of the American Society of Echocardiography, 2015-08, Vol.28 (8), p.999-1008
2015
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Pediatric neurology, 2009-05, Vol.40 (5), p.380-382
2009
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Case reports in neurology, 2011-01, Vol.3 (1), p.1-6
2011
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Muscle & nerve, 2007-01, Vol.35 (1), p.36-42
2007
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Journal of inherited metabolic disease, 2012-03, Vol.35 (2), p.317-323
2012
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Neurology. Genetics, 2019-04, Vol.5 (2), p.e315-e315
- Lee, Angela J
- Jones, Karra A
- Butterfield, Russell J
- Cox, Mary O
- Konersman, Chamindra G
- Grosmann, Carla
- Abdenur, Jose E
- Boyer, Monica
- Beson, Brent
- Wang, Ching
- Dowling, James J
- Gibbons, Melissa A
- Ballard, Alison
- Janas, Joanne S
- Leshner, Robert T
- Donkervoort, Sandra
- Bönnemann, Carsten G
- Malicki, Denise M
- Weiss, Robert B
- Moore, Steven A
- Mathews, Katherine D
2019
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Muscle & nerve, 2009-07, Vol.40 (1), p.149-160
2009
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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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Medical science monitor, 2004-12, Vol.10 (12), p.CR684-CR689
2004
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Annals of otology, rhinology & laryngology, 2001-06, Vol.110 (6), p.524-531
2001
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Nature communications, 2017-01, Vol.8 (1), p.14143-14143, Article 14143
2017
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Muscle & nerve, 2013-07, Vol.48 (1), p.55-67
2013
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JAMA : the journal of the American Medical Association, 2012-10, Vol.308 (13), p.1357
2012
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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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American journal of human genetics, 2016-11, Vol.99 (5), p.1163-1171
- Bello, Luca
- Flanigan, Kevin M.
- Weiss, Robert B.
- Dunn, Diane M.
- Swoboda, Kathryn J.
- Gappmaier, Eduard
- Howard, Michael T.
- Sampson, Jacinda B.
- Bromberg, Mark B.
- Butterfield, Russell
- Kerr, Lynne
- Pestronk, Alan
- Florence, Julaine M.
- Connolly, Anne
- Lopate, Glenn
- Golumbek, Paul
- Schierbecker, Jeanine
- Malkus, Betsy
- Renna, Renee
- Siener, Catherine
- Finkel, Richard S.
- Bonnemann, Carsten G.
- Medne, Livija
- Glanzman, Allan M.
- Flickinger, Jean
- Mendell, Jerry R.
- King, Wendy M.
- Lowes, Linda
- Alfano, Lindsay
- Mathews, Katherine D.
- Stephan, Carrie
- Laubenthal, Karla
- Baldwin, Kris
- Wong, Brenda
- Morehart, Paula
- Meyer, Amy
- Day, John W.
- Naughton, Cameron E.
- Margolis, Marcia
- Spitali, Pietro
- Aartsma-Rus, Annemieke
- Muntoni, Francesco
- Zaharieva, Irina
- Ferlini, Alessandra
- Mercuri, Eugenio
- Tuffery-Giraud, Sylvie
- Claustres, Mireille
- Straub, Volker
- Lochmüller, Hanns
- Barp, Andrea
- Vianello, Sara
- Pegoraro, Elena
- Punetha, Jaya
- Gordish-Dressman, Heather
- Giri, Mamta
- McDonald, Craig M.
- Hoffman, Eric P.
- Cnaan, Avital
- Abresch, Richard T.
- Henricson, Erik K.
- Morgenroth, Lauren P.
- Duong, Tina
- Chidambaranathan, V. Viswanathan
- Biggar, W. Douglas
- McAdam, Laura C.
- Mah, Jean
- Tulinius, Mar
- Leshner, Robert
- Rocha, Carolina Tesi
- Thangarajh, Mathula
- Kornberg, Andrew
- Ryan, Monique
- Nevo, Yoram
- Dubrovsky, Alberto
- Clemens, Paula R.
- Abdel-Hamid, Hoda
- Connolly, Anne M.
- Teasley, Jean
- Bertorini, Tulio E.
- North, Kathryn
- Webster, Richard
- Kolski, Hanna
- Kuntz, Nancy
- Driscoll, Sherilyn
- Carlo, Jose
- Gorni, Ksenija
- Lotze, Timothy
- Karachunski, Peter
- Bodensteiner, John B.
2016
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Muscle & nerve, 2013-07, Vol.48 (1), p.32-54
2013
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Muscle & nerve, 2014-08, Vol.50 (2), p.250-256
2014
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The Journal of the American Osteopathic Association, 1999-03, Vol.99 (3), p.165
1999
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Value in health, 2021-10, Vol.24 (10), p.1490-1498
- Landfeldt, Erik
- Iff, Joel
- Henricson, Erik
- Vishwanathan, V.
- Chidambaranathan, S.
- Biggar, W. Douglas
- McAdam, Laura C.
- Mah, Jean K.
- Tulinius, Mar
- Cnaan, Avital
- Morgenroth, Lauren P.
- Leshner, Robert
- TesiRocha, Carolina
- Thangarajh, Mathula
- Duong, Tina
- Kornberg, Andrew
- Ryan, Monique
- Nevo, Yoram
- Dubrovsky, Alberto
- Clemens, Paula R.
- Abdel-Hamid, Hoda
- Connolly, Anne M.
- Pestronk, Alan
- Teasley, Jean
- Bertorini, 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.
2021
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Neuromuscular disorders : NMD, 2009-12, Vol.19 (12), p.805-812
2009
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JAMA network open, 2022-01, Vol.5 (1), p.e2144178-e2144178
- Mah, Jean K
- Clemens, Paula R
- Guglieri, Michela
- Smith, Edward C
- Finkel, Richard S
- Tulinius, Mar
- Nevo, Yoram
- Ryan, Monique M
- Webster, Richard
- Castro, Diana
- Kuntz, Nancy L
- McDonald, Craig M
- Damsker, Jesse M
- Schwartz, Benjamin D
- Mengle-Gaw, Laurel J
- Jackowski, Stefan
- Stimpson, Georgia
- Ridout, Deborah A
- Ayyar-Gupta, Vandana
- Baranello, Giovanni
- Manzur, Adnan Y
- Muntoni, Francesco
- Gordish-Dressman, Heather
- Leinonen, Mika
- Ward, Leanne M
- Hoffman, Eric P
- Dang, Utkarsh J
2022
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Journal of neuropathology and experimental neurology, 1989-09, Vol.48 (5), p.507-518
1989
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Journal of pharmacokinetics and pharmacodynamics, 2019-10, Vol.46 (5), p.441-455
- Conrado, Daniela J.
- Larkindale, Jane
- Berg, Alexander
- Hill, Micki
- Burton, Jackson
- Abrams, Keith R.
- Abresch, Richard T.
- Bronson, Abby
- Chapman, Douglass
- Crowther, Michael
- Duong, Tina
- Gordish-Dressman, Heather
- Harnisch, Lutz
- Henricson, Erik
- Kim, Sarah
- McDonald, Craig M.
- Schmidt, Stephan
- Vong, Camille
- Wang, Xiaoxing
- Wong, Brenda L.
- Yong, Florence
- Romero, Klaus
2019
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