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European journal of epidemiology, 2020-07, Vol.35 (7), p.643-653
2020
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Journal of neuromuscular diseases, 2020-01, Vol.7 (1), p.1-13
2020
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Neuromuscular disorders : NMD, 2019-11, Vol.29 (11), p.842-856
- De Vivo, Darryl C.
- Bertini, Enrico
- Swoboda, Kathryn J.
- Hwu, Wuh-Liang
- Crawford, Thomas O.
- Finkel, Richard S.
- Kirschner, Janbernd
- Kuntz, Nancy L.
- Parsons, Julie A.
- Ryan, Monique M.
- Butterfield, Russell J.
- Topaloglu, Haluk
- Ben-Omran, Tawfeg
- Sansone, Valeria A.
- Jong, Yuh-Jyh
- Shu, Francy
- Staropoli, John F.
- Kerr, Douglas
- Sandrock, Alfred W.
- Stebbins, Christopher
- Petrillo, Marco
- Braley, Gabriel
- Johnson, Kristina
- Foster, Richard
- Gheuens, Sarah
- Bhan, Ishir
- Reyna, Sandra P.
- Fradette, Stephanie
- Farwell, Wildon
2019
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Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.103-115
- Mercuri, Eugenio
- Finkel, Richard S.
- Muntoni, Francesco
- Wirth, Brunhilde
- Montes, Jacqueline
- Main, Marion
- Mazzone, Elena S.
- Vitale, Michael
- Snyder, Brian
- Quijano-Roy, Susana
- Bertini, Enrico
- Davis, Rebecca Hurst
- Meyer, Oscar H.
- Simonds, Anita K.
- Schroth, Mary K.
- Graham, Robert J.
- Kirschner, Janbernd
- Iannaccone, Susan T.
- Crawford, Thomas O.
- Woods, Simon
- Qian, Ying
- Sejersen, Thomas
- Tiziano, Francesco Danilo
- Tizzano, Eduardo
- Topaloglu, Haluk
- Swoboda, Kathy
- Laing, Nigel
- Kayoko, Saito
- Prior, Thomas
- Chung, Wendy K.
- Wu, Shou-Mei
- Mazzone, Elena
- Coleman, Caron
- Gee, Richard
- Glanzman, Allan
- Kroksmark, Anna-Karin
- Krosschell, Kristin
- Nelson, Leslie
- Rose, Kristy
- Stępień, Agnieszka
- Vuillerot, Carole
- Dubousset, Jean
- Farrington, David
- Flynn, Jack
- Halanski, Matthew
- Hasler, Carol
- Miladi, Lotfi
- Reilly, Christopher
- Roye, Benjamin
- Sponseller, Paul
- Yazici, Muharrem
- Hurst, Rebecca
- Tarrant, Stacey
- Barja, Salesa
- Bertoli, Simona
- Crawford, Thomas
- Foust, Kevin
- Kyle, Barbara
- Rodan, Lance
- Roper, Helen
- Seffrood, Erin
- Swoboda, Kathryn
- Szlagatys-Sidorkiewicz, Agnieszka
2018
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Deutsches Ärzteblatt international, 2020-12, Vol.117 (51-52), p.878-885
2020
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Developmental medicine and child neurology, 2018-10, Vol.60 (10), p.987-996
2018
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Orphanet journal of rare diseases, 2020-07, Vol.15 (1), p.1-194, Article 194
2020
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Lancet neurology, 2024-04, Vol.23 (4), p.330-331
2024
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Nature (London), 2013-03, Vol.495 (7442), p.467-473
- Kim, Hong Joo
- Kim, Nam Chul
- Wang, Yong-Dong
- Scarborough, Emily A
- Moore, Jennifer
- Diaz, Zamia
- MacLea, Kyle S
- Freibaum, Brian
- Li, Songqing
- Molliex, Amandine
- Kanagaraj, Anderson P
- Carter, Robert
- Boylan, Kevin B
- Wojtas, Aleksandra M
- Rademakers, Rosa
- Pinkus, Jack L
- Greenberg, Steven A
- Trojanowski, John Q
- Traynor, Bryan J
- Smith, Bradley N
- Topp, Simon
- Gkazi, Athina-Soragia
- Miller, Jack
- Shaw, Christopher E
- Kottlors, Michael
- Kirschner, Janbernd
- Pestronk, Alan
- Li, Yun R
- Ford, Alice Flynn
- Gitler, Aaron D
- Benatar, Michael
- King, Oliver D
- Kimonis, Virginia E
- Ross, Eric D
- Weihl, Conrad C
- Shorter, James
- Taylor, J Paul
2013
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Journal of neurology, 2017-07, Vol.264 (7), p.1465-1473
2017
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JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68
- Taylor, Robert W
- Pyle, Angela
- Griffin, Helen
- Blakely, Emma L
- Duff, Jennifer
- He, Langping
- Smertenko, Tania
- Alston, Charlotte L
- Neeve, Vivienne C
- Best, Andrew
- Yarham, John W
- Kirschner, Janbernd
- Schara, Ulrike
- Talim, Beril
- Topaloglu, Haluk
- Baric, Ivo
- Holinski-Feder, Elke
- Abicht, Angela
- Czermin, Birgit
- Kleinle, Stephanie
- Morris, Andrew A M
- Vassallo, Grace
- Gorman, Grainne S
- Ramesh, Venkateswaran
- Turnbull, Douglass M
- Santibanez-Koref, Mauro
- McFarland, Robert
- Horvath, Rita
- Chinnery, Patrick F
2014
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Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.18-18, Article 18
2019
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Journal of allergy and clinical immunology, 2009-12, Vol.124 (6), p.1311-1318.e7
- McCarl, Christie-Ann, BS
- Picard, Capucine, MD, PhD
- Khalil, Sara, BS
- Kawasaki, Takumi, PhD
- Röther, Jens
- Papolos, Alexander, BS
- Kutok, Jeffery, MD
- Hivroz, Claire, PhD
- LeDeist, Francoise, MD, PhD
- Plogmann, Katrin, DMD
- Ehl, Stephan, MD
- Notheis, Gundula, MD
- Albert, Michael H., MD
- Belohradsky, Bernd H., MD
- Kirschner, Janbernd, MD
- Rao, Anjana, PhD
- Fischer, Alain, MD
- Feske, Stefan, MD
2009
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Journal of neuromuscular diseases, 2019-01, Vol.6 (4), p.453-465
2019
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Lancet neurology, 2017-07, Vol.16 (7), p.513-522
- Bertini, Enrico, Prof
- Dessaud, Eric, PhD
- Mercuri, Eugenio, Prof
- Muntoni, Francesco, Prof
- Kirschner, Janbernd, Prof
- Reid, Carol, PhD
- Lusakowska, Anna, MD
- Comi, Giacomo P, Prof
- Cuisset, Jean-Marie, MD
- Abitbol, Jean-Louis, MD
- Scherrer, Bruno, PhD
- Ducray, Patricia Sanwald, PhD
- Buchbjerg, Jeppe, MSc
- Vianna, Eduardo, PhD
- van der Pol, W Ludo, MD
- Vuillerot, Carole, MD
- Blaettler, Thomas, MD
- Fontoura, Paulo, MD
2017
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Muscle & nerve, 2023-08, Vol.68 (2), p.157-170
- Crawford, Thomas O.
- Swoboda, Kathryn J.
- De Vivo, Darryl C.
- Bertini, Enrico
- Hwu, Wuh‐Liang
- Finkel, Richard S.
- Kirschner, Janbernd
- Kuntz, Nancy L.
- Nazario, Aledie Navas
- Parsons, Julie A.
- Pechmann, Astrid
- Ryan, Monique M.
- Butterfield, Russell J.
- Topaloglu, Haluk
- Ben‐Omran, Tawfeg
- Sansone, Valeria A.
- Jong, Yuh‐Jyh
- Shu, Francy
- Zhu, Cong
- Raynaud, Stephanie
- Lago, Tiffany R.
- Paradis, Angela D.
- Foster, Richard
- Chin, Russell
- Berger, Zdenek
2023
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American journal of human genetics, 2012-02, Vol.90 (2), p.314-320
- Mayr, Johannes A.
- Haack, Tobias B.
- Graf, Elisabeth
- Zimmermann, Franz A.
- Wieland, Thomas
- Haberberger, Birgit
- Superti-Furga, Andrea
- Kirschner, Janbernd
- Steinmann, Beat
- Baumgartner, Matthias R.
- Moroni, Isabella
- Lamantea, Eleonora
- Zeviani, Massimo
- Rodenburg, Richard J.
- Smeitink, Jan
- Strom, Tim M.
- Meitinger, Thomas
- Sperl, Wolfgang
- Prokisch, Holger
2012
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European journal of human genetics : EJHG, 2020-03, Vol.28 (3), p.373-377
- Balaraju, Sunitha
- Töpf, Ana
- McMacken, Grace
- Kumar, Veeramani Preethish
- Pechmann, Astrid
- Roper, Helen
- Vengalil, Seena
- Polavarapu, Kiran
- Nashi, Saraswati
- Mahajan, Niranjan Prakash
- Barbosa, Ines A
- Deshpande, Charu
- Taylor, Robert W
- Cossins, Judith
- Beeson, David
- Laurie, Steven
- Kirschner, Janbernd
- Horvath, Rita
- McFarland, Robert
- Nalini, Atchayaram
- Lochmüller, Hanns
2020
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Journal of perinatal medicine, 2021-10, Vol.49 (8), p.1011
2021
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Cytoskeleton (Hoboken, N.J.), 2019-01, Vol.76 (1), p.131-136
2019
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Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.152-152, Article 152
2019
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Deutsches Ärzteblatt international, 2020-12
2020
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Haematologica (Roma), 2018-03, Vol.103 (3), p.540
2018
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American journal of human genetics, 2011-02, Vol.88 (2), p.162-172
- Senderek, Jan
- Müller, Juliane S.
- Dusl, Marina
- Strom, Tim M.
- Guergueltcheva, Velina
- Diepolder, Irmgard
- Laval, Steven H.
- Maxwell, Susan
- Cossins, Judy
- Krause, Sabine
- Muelas, Nuria
- Vilchez, Juan J.
- Colomer, Jaume
- Mallebrera, Cecilia Jimenez
- Nascimento, Andres
- Nafissi, Shahriar
- Kariminejad, Ariana
- Nilipour, Yalda
- Bozorgmehr, Bita
- Najmabadi, Hossein
- Rodolico, Carmelo
- Sieb, Jörn P.
- Steinlein, Ortrud K.
- Schlotter, Beate
- Schoser, Benedikt
- Kirschner, Janbernd
- Herrmann, Ralf
- Voit, Thomas
- Oldfors, Anders
- Lindbergh, Christopher
- Urtizberea, Andoni
- von der Hagen, Maja
- Hübner, Angela
- Palace, Jacqueline
- Bushby, Kate
- Straub, Volker
- Beeson, David
- Abicht, Angela
- Lochmüller, Hanns
2011
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Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.66-66, Article 66
- Atalaia, Antonio
- Wandrei, Dagmar
- Lalout, Nawel
- Thompson, Rachel
- Tassoni, Adrian
- 't Hoen, Peter A C
- Athanasiou, Dimitrios
- Baker, Suzie-Ann
- Sakellariou, Paraskevi
- Paliouras, Georgios
- D'Angelo, Carla
- Horvath, Rita
- Mancuso, Michelangelo
- van der Beek, Nadine
- Kornblum, Cornelia
- Kirschner, Janbernd
- Pareyson, Davide
- Bassez, Guillaume
- Blacas, Laura
- Jacoupy, Maxime
- Eng, Catherine
- Lamy, François
- Plançon, Jean-Philippe
- Haberlova, Jana
- Brusse, Esther
- Hoeijmakers, Janneke G J
- de Visser, Marianne
- Claeys, Kristl G
- Paradas, Carmen
- Toscano, Antonio
- Silani, Vincenzo
- Gyenge, Melinda
- Reviers, Evy
- Hamroun, Dalil
- Vroom, Elisabeth
- Wilkinson, Mark D
- Lochmuller, Hanns
- Evangelista, Teresinha
2024
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