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European journal of medical genetics, 2013-06, Vol.56 (6), p.301-308
- Darmency-Stamboul, Véronique
- Burglen, Lydie
- Lopez, Estelle
- Mejean, Nathalie
- Dean, John
- Franco, Brunella
- Rodriguez, Diana
- Lacombe, Didier
- Desguerres, Isabelle
- Cormier-Daire, Valérie
- Doray, Bérénice
- Pasquier, Laurent
- Gonzales, Marie
- Pastore, Matthew
- Crenshaw, Melissa L
- Huet, Frédéric
- Gigot, Nadège
- Aral, Bernard
- Callier, Patrick
- Faivre, Laurence
- Attié-Bitach, Tania
- Thauvin-Robinet, Christel
2013
Link zum Volltext
The Lancet (British edition), 2017-09, Vol.390 (10101), p.1489-1498
- McDonald, Craig M
- Campbell, Craig
- Torricelli, Ricardo Erazo
- Finkel, Richard S
- Flanigan, Kevin M
- Goemans, Nathalie
- Heydemann, Peter
- Kaminska, Anna
- Kirschner, Janbernd
- Muntoni, Francesco
- Osorio, Andrés Nascimento
- Schara, Ulrike
- Sejersen, Thomas
- Shieh, Perry B
- Sweeney, H Lee
- Topaloglu, Haluk
- Tulinius, Már
- Vilchez, Juan J
- Voit, Thomas
- Wong, Brenda
- Elfring, Gary
- Kroger, Hans
- Luo, Xiaohui
- McIntosh, Joseph
- Ong, Tuyen
- Riebling, Peter
- Souza, Marcio
- Spiegel, Robert J
- Peltz, Stuart W
- Mercuri, Eugenio
- Alfano, Lindsay N
- Eagle, Michelle
- James, Meredith K
- Lowes, Linda
- Mayhew, Anna
- Mazzone, Elena S
- Nelson, Leslie
- Rose, Kristy J
- Abdel-Hamid, Hoda Z
- Apkon, Susan D
- Barohn, Richard J
- Bertini, Enrico
- Bloetzer, Clemens
- de Vaud, Lausanne Canton
- Butterfield, Russell J
- Chabrol, Brigitte
- Chae, Jong-Hee
- Jongno-gu, Daehak-ro
- Comi, Giacomi Pietro
- Darras, Basil T
- Dastgir, Jahannaz
- Desguerre, Isabelle
- Escobar, Raul G
- Finanger, Erika
- Guglieri, Michela
- Hughes, Imelda
- Iannaccone, Susan T
- Jones, Kristi J
- Karachunski, Peter
- Kudr, Martin
- Lotze, Timothy
- Mah, Jean K
- Mathews, Katherine
- Nevo, Yoram
- Parsons, Julie
- Péréon, Yann
- de Queiroz Campos Araujo, Alexandra Prufer
- Renfroe, J Ben
- de Resende, Maria Bernadete Dutra
- Ryan, Monique
- Selby, Kathryn
- Tennekoon, Gihan
- Vita, Giuseppe
2017
Link zum Volltext
Developmental medicine and child neurology, 2019-12, Vol.61 (12), p.1439-1447
- Remerand, Ganaelle
- Boespflug‐Tanguy, Odile
- Tonduti, Davide
- Touraine, Renaud
- Rodriguez, Diana
- Curie, Aurore
- Perreton, Nathalie
- Des Portes, Vincent
- Sarret, Catherine
- Afenjar, Alexandra
- Burglen, Lydie
- Castellotti, Barbara
- Cuntz, Danielle
- Desguerre, Isabelle
- Doummar, Diane
- Estienne, Margherita
- Freri, Elena
- Heron, Delphine
- Moutard, Marie‐Laure
- Novara, Francesca
- Orcesi, Simona
- Saletti, Veronica
- Zibordi, Federica
2019
Link zum Volltext
Lancet neurology, 2022-01, Vol.21 (1), p.42-52
- Nascimento, Andres
- Vuillerot, Carole
- Boespflug-Tanguy, Odile
- Kirschner, Janbernd
- Kostera-Pruszczyk, Anna
- Kletzl, Heidemarie
- Day, John W
- Volpe, Joseph J.
- Posner, John
- Daron, Aurore
- Delbeke, Patricia
- Wittevrongel, Sylvia
- De Vos, Elke
- De Waele, Liesbeth
- Prufer de Queiroz Campos Araujo, Alexandra
- Haefeli, Lorena
- Chiu, Angela
- Oskoui, Maryam
- Toffoli, Daniela
- Turgeon Desilets, Sarah
- Wang, Yi
- Shen, Li
- Li, Hui
- Sang, Tian
- Barisic, Nina
- Galiot Delic, Martina
- Ivkic, Petra Kristina
- Kern, Ivana
- Momtchilova, Marta Milkova
- Milascevic, Darko
- Aubertin, Guillaume
- Coopman, Stephanie
- Debruyne, Philippe
- Derlyn, Gilles
- Danjoux, Loïc
- Deladrière, Élodie
- Germa, Virginie
- Billaud, Fanny
- Le Goff, Lucie
- Letellier, Guy
- De-Montferrand, Camille
- Le-Goff, Laure
- Fontaine, Stephanie
- Lagréze, Wolf
- Bertini, Enrico
- D'Amico, Adele
- Carlesi, Adelina
- Zuffi, Ambra
- Comi, Giacomo Pietro
- Daniele, Velardo
- Minorini, Valeria
- Fassini, Federica
- Foa, Michaela
- Parente, Valeria
- Masson, Riccardo
- Tremolada, Gemma
- Amorelli, Giulia Maria
- Orazi, Lorenzo
- Coratti, Giorgia
- Morishita, Yuko
- Goto, Miwako
- Tsutsui, Saki
- Takatsuji, Yuta
- Komaki, Hirofumi
- Omori, Miina
- Nagura, Hiroe
- Usui, Manami
- Fudeyasu, Kenishi
- Hirata, Kazuhiko
- Michiue, Kana
- Fujitani, Junko
- Seki, Maiko
- Fukuyama, Koji
- Shibata, Minoru
- Kobayashi, Kyoko
- Nakamura, Yukie
- Sikorski, Adam
- Koberda, Mateusz
- Stodolska-Koberda, Urszula
- Waskowska, Agnieszka
- Kolendo, Jagoda
- Steinborn, Barbara
- Klimas, Monika
- Stopa, Marcin
- Gajewska, Ewa
- Leppenen, Natalya
- Brankovic, Vesna
- Djokic, Olivera
- Planas Pascual, Bernat
- Salinas, Marta Peña
- Padros, Nuria
- Oncel, Ibrahim
- Eroglu Ertugru, Nesibe
- Kadayifçilar, Sibel
- Karaduman, Aynur Ayse
- Chiriboga, Claudia
- Marquet, Anne
- Muelhardt, Nicoletta
- Trundell, Dylan
2022
Link zum Volltext
Brain (London, England : 1878), 2014-06, Vol.137 (Pt 6), p.1676-1700
2014
Link zum Volltext
The lancet child & adolescent health, 2021-03, Vol.5 (3), p.167-177
- Lindan, Camilla E
- Mankad, Kshitij
- Ram, Dipak
- Kociolek, Larry K
- Silvera, V Michelle
- Boddaert, Nathalie
- Stivaros, Stavros Michael
- Palasis, Susan
- Akhtar, Sameen
- Alden, Douglas
- Amonkar, Suraj
- Aouad, Pascale
- Aubart, Mélodie
- Bacalla, Jose Alejandro
- Barbosa, Alcino A
- Basmaci, Romain
- Berteloot, Laureline
- Blauwblomme, Thomas
- Brun, Gilles
- Carney, Olivia
- Chareyre, Judith
- Chéron, Gérard
- Coimbra, Pablo Picasso De Araujo
- Dangouloff-Ros, Volodia
- D'Arco, Felice
- Dineen, Rob
- De-Pontual, Loic
- Desguerre, Isabelle
- Elfallal, Wissam
- Evans, D. Gareth
- Ferraciolli, Suely Fazio
- Girard, Nadine
- Gonçalves, Fabrício Guimarães
- Gonzalez, Ivan
- Grant, P. Ellen
- Grévent, David
- Guimaraes, Carolina Valduga de Alencastro
- Hassell, Jane
- Hirata, Fabiana C.C.
- Kamaly-Asl, Ian
- Jacob, Jeffrey
- Jackson, Kandise
- Jones, Blaise V.
- Joseph, Robin
- Jung, Ah Young
- Kashgari, Amna
- Kilday, John-Paul
- Kirsch, Alyssa
- Kossorotoff, Manoelle
- Krishnan, Anant
- Kulkarni, Shilpa
- Leruez-Vill, Marianne
- Lesage, Fabrice
- Levy, Raphaël
- Li, Yi
- Lima, Carol Cavalcante de Vasconcelos
- Lingappa, Lokesh
- Löbel, Ulrike
- Lopez-Alberola, Roberto
- Lucato, Leandro Tavares
- Moreira, Daniela Duarte
- Murnick, Jonathan G.
- Nahmani, Sarah
- Pagariya, Shubra
- Pavaine, Julija
- Philbrook, Bryan
- Piovesan, Ana Cláudia
- Poisson, Kelsey E.
- Reddy, Nihaal
- Riley, Phil
- Romsauerova, Andrea
- Roux, Charlies-Joris
- Rugilo, Carlos
- Saigal, Gaurav
- Salvador, Gabriel Lucca de Oliveira
- Seidenwurm, David
- Sermet-Gaudelus, Isabelle
- Sidpra, Jai
- Sudhakar, Sniya Valsa
- Toronchik, María Sol
- Vézina, Gilbert
2021
Link zum Volltext
Neuromuscular disorders : NMD, 2014-04, Vol.24 (4), p.289-311
2014
Link zum Volltext
Neurology, 2021-03, Vol.96 (9), p.e1319
- Masnada, Silvia
- Pichiecchio, Anna
- Formica, Manuela
- Arrigoni, Filippo
- Borrelli, Paola
- Accorsi, Patrizia
- Bonanni, Paolo
- Borgatti, Renato
- Bernardina, Bernardo Dalla
- Danieli, Alberto
- Darra, Francesca
- Deconinck, Nicolas
- De Giorgis, Valentina
- Dulac, Olivier
- Gataullina, Svetlana
- Giordano, Lucio
- Guerrini, Renzo
- La Briola, Francesca
- Mastrangelo, Massimo
- Montomoli, Martino
- Mortilla, Marzia
- Osanni, Elisa
- Parisi, Pasquale
- Perucca, Emilio
- Pinelli, Lorenzo
- Romaniello, Romina
- Severino, Mariasavina
- Vigevano, Federico
- Vignoli, Aglaia
- Bahi-Buisson, Nadia
- Cavallin, Mara
- Accogli, Andrea
- Burgeois, Marie
- Capra, Valeria
- Chaves-Vischer, Virgine
- Chiapparini, Luisa
- Colafati, GiovannaStefania
- D'Arrigo, Stefano
- Desguerre, Isabelle
- Doco-Fenzy, Martine
- d'Orsi, Giuseppe
- Epitashvili, Nino
- Fazzi, Elisa
- Ferretti, Alessandro
- Fiorini, Elena
- Fradin, Melanie
- Fusco, Carlo
- Granata, Tiziana
- Johannesen, Katrine Marie
- Lebon, Sebastien
- Loget, Philippe
- Moller, Rikke Steensjerre
- Montanaro, Domenico
- Orcesi, Simona
- Quelin, Chloe
- Rebessi, Erika
- Romeo, Antonino
- Solazzi, Roberta
- Spagnoli, Carlotta
- Uebler, Christian
- Zara, Federico
- Arzimanoglou, Alexis
- Veggiotti, Pierangelo
2021
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Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.223-244
2013
Link zum Volltext
Neurology and therapy, 2023-04, Vol.12 (2), p.543-557
2023
Link zum Volltext
European journal of pain, 2018-02, Vol.22 (2), p.261-271
- Boulkedid, R.
- Abdou, A.Y.
- Desselas, E.
- Monégat, M.
- Leeuw, T.G.
- Avez‐Couturier, J.
- Dugue, S.
- Mareau, C.
- Charron, B.
- Alberti, C.
- Kaguelidou, F.
- Bali, Donjeta
- Hoxha(Qosja), Alketa
- Kola, Ermira
- Talvik, Inga
- Andrieu‐Galien, Juliette
- Annequin, Daniel
- Blanchet, Romy
- Desguerre, Isabelle
- Fournier‐Charrière, Elisabeth
- Tourniaire, Barbara
- Wood, Chantal
- Neubert, Antje
- Trollmann, Regina
- Wimmer, Stefan
- Garini, Eleana
- Mammi, Panagoula
- Allegretti, Marcello
- Bellagamba, Ornella
- Benini, Franca
- Bonifazi, Donato
- Caprino, Daniela
- Ceci, Adriana
- Congedi, Sabrina
- Craig, Francesco
- Dallorso, Sandro
- Divisic, Antuan
- Felisi, Mariagrazia
- Gentile, Marco
- De Giacomo, Andrea
- Lundin, Rebecca
- Manfredini, Luca
- Mangiarini, Laura
- Matera, Emilia
- Margari, Lucia
- Mazza, Alessandro
- Pace, Virgilio
- Di Pede, Chiara
- Giuseppina Petruzzelli, Maria
- Ruffini, Pieradelchi
- Tagliavacca, Luigina
- Traverso, Maria
- Mensink, Maarten O
- Tibboel, Dick
- Wildt, Saskia N
- Zanden, Tjitske
- Pasqua, Oscar Della
- Healy, Paul
2018
Link zum Volltext
Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.122-122, Article 122
2019
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Neurology and therapy, 2023-10, Vol.12 (5), p.1799-1801
2023
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Trials, 2019-01, Vol.20 (1), p.49-49, Article 49
2019
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Journal of comparative effectiveness research, 2021-12, Vol.10 (18), p.1337-1347
2021
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BMJ open, 2019-02, Vol.9 (2), p.e023296-e023296
2019
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