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Nature communications, 2022-04, Vol.13 (1), p.2306-2306, Article 2306
- Kim, Hong Joo
- Mohassel, Payam
- Donkervoort, Sandra
- Guo, Lin
- O'Donovan, Kevin
- Coughlin, Maura
- Lornage, Xaviere
- Foulds, Nicola
- Hammans, Simon R
- Foley, A Reghan
- Fare, Charlotte M
- Ford, Alice F
- Ogasawara, Masashi
- Sato, Aki
- Iida, Aritoshi
- Munot, Pinki
- Ambegaonkar, Gautam
- Phadke, Rahul
- O'Donovan, Dominic G
- Buchert, Rebecca
- Grimmel, Mona
- Töpf, Ana
- Zaharieva, Irina T
- Brady, Lauren
- Hu, Ying
- Lloyd, Thomas E
- Klein, Andrea
- Steinlin, Maja
- Kuster, Alice
- Mercier, Sandra
- Marcorelles, Pascale
- Péréon, Yann
- Fleurence, Emmanuelle
- Manzur, Adnan
- Ennis, Sarah
- Upstill-Goddard, Rosanna
- Bello, Luca
- Bertolin, Cinzia
- Pegoraro, Elena
- Salviati, Leonardo
- French, Courtney E
- Shatillo, Andriy
- Raymond, F Lucy
- Haack, Tobias B
- Quijano-Roy, Susana
- Böhm, Johann
- Nelson, Isabelle
- Stojkovic, Tanya
- Evangelista, Teresinha
- Straub, Volker
- Romero, Norma B
- Laporte, Jocelyn
- Muntoni, Francesco
- Nishino, Ichizo
- Tarnopolsky, Mark A
- Shorter, James
- Bönnemann, Carsten G
- Taylor, J Paul
2022
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Journal of human genetics, 2014-08, Vol.59 (8), p.454-464
2014
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Orphanet journal of rare diseases, 2017-09, Vol.12 (1), p.151-151, Article 151
2017
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PloS one, 2020-09, Vol.15 (9), p.e0239329-e0239329
2020
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Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.66-66
- 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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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.206-206, Article 206
- Atalaia, Antonio
- Thompson, Rachel
- Corvo, Alberto
- Carmody, Leigh
- Piscia, Davide
- Matalonga, Leslie
- Macaya, Alfons
- Lochmuller, Angela
- Fontaine, Bertrand
- Zurek, Birte
- Hernandez-Ferrer, Carles
- Reinhard, Carola
- Gómez-Andrés, David
- Desaphy, Jean-François
- Schon, Katherine
- Lohmann, Katja
- Jennings, Matthew J
- Synofzik, Matthis
- Riess, Olaf
- Yaou, Rabah Ben
- Evangelista, Teresinha
- Ratnaike, Thiloka
- Bros-Facer, Virginie
- Gumus, Gulcin
- Horvath, Rita
- Chinnery, Patrick
- Laurie, Steven
- Graessner, Holm
- Robinson, Peter
- Lochmuller, Hanns
- Beltran, Sergi
- Bonne, Gisèle
2020
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Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.196-196
- Fortunato, Fernanda
- Bianchi, Francesca
- Ricci, Giulia
- Torri, Francesca
- Gualandi, Francesca
- Neri, Marcella
- Farnè, Marianna
- Giannini, Fabio
- Malandrini, Alessandro
- Volpi, Nila
- Lopergolo, Diego
- Silani, Vincenzo
- Ticozzi, Nicola
- Verde, Federico
- Pareyson, Davide
- Fenu, Silvia
- Bonanno, Silvia
- Nigro, Vincenzo
- Peduto, Cristina
- D'Ambrosio, Paola
- Zeuli, Roberta
- Zanobio, Mariateresa
- Picillo, Esther
- Servidei, Serenella
- Primiano, Guido
- Sancricca, Cristina
- Sciacco, Monica
- Brusa, Roberta
- Filosto, Massimiliano
- Cotti Piccinelli, Stefano
- Pegoraro, Elena
- Mongini, Tiziana
- Solero, Luca
- Gadaleta, Giulio
- Brusa, Chiara
- Minetti, Carlo
- Bruno, Claudio
- Panicucci, Chiara
- Sansone, Valeria A
- Lunetta, Christian
- Zanolini, Alice
- Toscano, Antonio
- Pugliese, Alessia
- Nicocia, Giulia
- Bertini, Enrico
- Catteruccia, Michela
- Diodato, Daria
- Atalaia, Antonio
- Evangelista, Teresinha
- Siciliano, Gabriele
- Ferlini, Alessandra
2023
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Journal of neurology, 2016-07, Vol.263 (7), p.1401-1408
2016
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Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.75-75, Article 75
2021
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Neuromuscular disorders : NMD, 2016-08, Vol.26 (8), p.535-547
2016
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European journal of medical genetics, 2017-03, Vol.60 (3), p.185-189
2017
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EBioMedicine, 2023-01, Vol.87, p.104400-104400, Article 104400
2023
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Acta neuropathologica communications, 2022-07, Vol.10 (1), p.1-101, Article 101
- Labasse, Clémence
- Brochier, Guy
- Taratuto, Ana-Lia
- Cadot, Bruno
- Rendu, John
- Monges, Soledad
- Biancalana, Valérie
- Quijano-Roy, Susana
- Bui, Mai Thao
- Chanut, Anaïs
- Madelaine, Angéline
- Lacène, Emmanuelle
- Beuvin, Maud
- Amthor, Helge
- Servais, Laurent
- de Feraudy, Yvan
- Erro, Marcela
- Saccoliti, Maria
- Neto, Osorio Abath
- Fauré, Julien
- Lannes, Béatrice
- Laugel, Vincent
- Coppens, Sandra
- Lubieniecki, Fabiana
- Bello, Ana Buj
- Laing, Nigel
- Evangelista, Teresinha
- Laporte, Jocelyn
- Böhm, Johann
- Romero, Norma B
2022
Link zum Volltext
Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.145-145, Article 145
- Atalaia, Antonio
- Thompson, Rachel
- Corvo, Alberto
- Carmody, Leigh
- Piscia, Davide
- Matalonga, Leslie
- Macaya, Alfons
- Lochmuller, Angela
- Fontaine, Bertrand
- Zurek, Birte
- Hernandez-Ferrer, Carles
- Reinhard, Carola
- Gómez-Andrés, David
- Desaphy, Jean-François
- Schon, Katherine
- Lohmann, Katja
- Jennings, Matthew J
- Synofzik, Matthis
- Riess, Olaf
- Yaou, Rabah Ben
- Evangelista, Teresinha
- Ratnaike, Thiloka
- Bros-Facer, Virginie
- Gumus, Gulcin
- Horvath, Rita
- Chinnery, Patrick
- Laurie, Steven
- Graessner, Holm
- Robinson, Peter
- Lochmuller, Hanns
- Beltran, Sergi
- Bonne, Gisèle
2021
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M.S. Médecine sciences, 2019-11, Vol.35 Hors série n° 2, p.51
2019
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Biomedicines, 2022-09, Vol.10 (10), p.2443
2022
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Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.686-695
- Roy, Bhaskar
- Peck, Allison
- Evangelista, Teresinha
- Pfeffer, Gerald
- Wang, Leo
- Diaz‐Manera, Jordi
- Korb, Manisha
- Wicklund, Matthew P.
- Milone, Margherita
- Freimer, Miriam
- Kushlaf, Hani
- Villar‐Quiles, Rocio‐Nur
- Stojkovic, Tanya
- Needham, Merrilee
- Palmio, Johanna
- Lloyd, Thomas E.
- Keung, Benison
- Mozaffar, Tahseen
- Weihl, Conrad Chris
- Kimonis, Virginia
2023
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PloS one, 2012-02, Vol.7 (2), p.e31738-e31738
2012
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Clinical neurophysiology, 2004-12, Vol.115 (12), p.2776-2782
2004
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Annals of clinical and translational neurology, 2019-04, Vol.6 (4), p.642-654
2019
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Muscle & nerve, 2010-11, Vol.42 (5), p.836-838
2010
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Journal of human genetics, 2010-08, Vol.55 (8), p.546-549
2010
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Muscle & nerve, 2019-06, Vol.59 (6), p.711-713
2019
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Neuromuscular disorders : NMD, 2019-06, Vol.29 (6), p.483-485
2019
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Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.09-09
2015
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