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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Nature genetics, 2014-02, Vol.46 (2), p.188-193
- Logan, Clare V
- Szabadkai, György
- Sharpe, Jenny A
- Parry, David A
- Torelli, Silvia
- Childs, Anne-Marie
- Kriek, Marjolein
- Phadke, Rahul
- Johnson, Colin A
- Roberts, Nicola Y
- Bonthron, David T
- Pysden, Karen A
- Whyte, Tamieka
- Munteanu, Iulia
- Foley, A Reghan
- Wheway, Gabrielle
- Szymanska, Katarzyna
- Natarajan, Subaashini
- Abdelhamed, Zakia A
- Morgan, Joanne E
- Roper, Helen
- Santen, Gijs W E
- Niks, Erik H
- van der Pol, W Ludo
- Lindhout, Dick
- Raffaello, Anna
- De Stefani, Diego
- den Dunnen, Johan T
- Sun, Yu
- Ginjaar, Ieke
- Sewry, Caroline A
- Hurles, Matthew
- Rizzuto, Rosario
- Duchen, Michael R
- Muntoni, Francesco
- Sheridan, Eamonn
2014
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PloS one, 2016-04, Vol.11 (4), p.e0152840
2016
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Human mutation, 2013-11, Vol.34 (11), p.1501-1509
- Baruffini, Enrico
- Dallabona, Cristina
- Invernizzi, Federica
- Yarham, John W.
- Melchionda, Laura
- Blakely, Emma L.
- Lamantea, Eleonora
- Donnini, Claudia
- Santra, Saikat
- Vijayaraghavan, Suresh
- Roper, Helen P.
- Burlina, Alberto
- Kopajtich, Robert
- Walther, Anett
- Strom, Tim M.
- Haack, Tobias B.
- Prokisch, Holger
- Taylor, Robert W.
- Ferrero, Ileana
- Zeviani, Massimo
- Ghezzi, Daniele
2013
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Annals of neurology, 2008-08, Vol.64 (2), p.177-186
- Quijano-Roy, Susana
- Mbieleu, Blaise
- Bönnemann, Carsten G.
- Jeannet, Pierre-Yves
- Colomer, Jaume
- Clarke, Nigel F.
- Cuisset, Jean-Marie
- Roper, Helen
- De Meirleir, Linda
- D'Amico, Adele
- Ben Yaou, Rabah
- Nascimento, Andrés
- Barois, Annie
- Demay, Laurence
- Bertini, Enrico
- Ferreiro, Ana
- Sewry, Caroline A.
- Romero, Norma B.
- Ryan, Monique
- Muntoni, Francesco
- Guicheney, Pascale
- Richard, Pascale
- Bonne, Gisèle
- Estournet, Brigitte
2008
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Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.269-281
- CIRAK, Sebahattin
- REGHAN FOLEY, Aileen
- ROPER, Helen
- LONGMAN, Cheryl
- KORINTHENBERG, Rudolf
- MARROSU, Gianni
- NÜRNBERG, Peter
- MICHELE, Daniel E
- PLAGNOL, Vincent
- HURLES, Matt
- MOORE, Steven A
- SEWRY, Caroline A
- HERRMANN, Ralf
- CAMPBELL, Kevin P
- VOIT, Thomas
- MUNTONI, Francesco
- WILLER, Tobias
- YAU, Shu
- STEVENS, Elizabeth
- TORELLI, Silvia
- BRODD, Lina
- KAMYNINA, Alisa
- VONDRACEK, Petr
2013
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Developmental medicine and child neurology, 2017-08, Vol.59 (8), p.837-842
2017
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Journal of applied physiology (1985), 2004-07, Vol.97 (1), p.197-203
2004
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Medicine and science in sports and exercise, 2008-10, Vol.40 (10), p.1789-1794
2008
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The Journal of pediatrics, 2010-03, Vol.156 (3), p.450-455.e1
2010
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Journal of spine surgery (Hong Kong), 2016-09, Vol.2 (3), p.185-194
2016
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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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Journal of spine surgery (Hong Kong), 2016-09, Vol.2 (3), p.185-194
2016
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Archives of Disease in Childhood, 2010-10, Vol.95 (10), p.845-849
2010
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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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JAMA : the journal of the American Medical Association, 2022-04, Vol.327 (15), p.1456
- Guglieri, Michela
- Bushby, Kate
- McDermott, Michael P
- Hart, Kimberly A
- Tawil, Rabi
- Martens, William B
- Herr, Barbara E
- McColl, Elaine
- Speed, Chris
- Wilkinson, Jennifer
- Kirschner, Janbernd
- King, Wendy M
- Eagle, Michelle
- Brown, Mary W
- Willis, Tracey
- Griggs, Robert C
- Straub, Volker
- van Ruiten, Henriette
- Childs, Anne-Marie
- Ciafaloni, Emma
- Shieh, Perry B
- Spinty, Stefan
- Maggi, Lorenzo
- Baranello, Giovanni
- Butterfield, Russell J
- Horrocks, I A
- Roper, Helen
- Alhaswani, Zoya
- Flanigan, Kevin M
- Kuntz, Nancy L
- Manzur, Adnan
- Darras, Basil T
- Kang, Peter B
- Morrison, Leslie
- Krzesniak-Swinarska, Monika
- Mah, Jean K
- Mongini, Tiziana E
- Ricci, Federica
- von der Hagen, Maja
- Finkel, Richard S
- O'Reardon, Kathleen
- Wicklund, Matthew
- Kumar, Ashutosh
- McDonald, Craig M
- Han, Jay J
- Joyce, Nanette
- Henricson, Erik K
- Schara-Schmidt, Ulrike
- Gangfuss, Andrea
- Wilichowski, Ekkehard
- Barohn, Richard J
- Statland, Jeffrey M
- Campbell, Craig
- Vita, Giuseppe
- Vita, Gian Luca
- Howard, Jr, James F
- Hughes, Imelda
- McMillan, Hugh J
- Pegoraro, Elena
- Bello, Luca
- Burnette, W Bryan
- Thangarajh, Mathula
- Chang, Taeun
2022
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Indian journal of gastroenterology, 2024-05
2024
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Human mutation, 2012-06, Vol.33 (6), p.981-988
- Klein, Andrea
- Lillis, Suzanne
- Munteanu, Iulia
- Scoto, Mariacristina
- Zhou, Haiyan
- Quinlivan, Ros
- Straub, Volker
- Manzur, Adnan Y.
- Roper, Helen
- Jeannet, Pierre-Yves
- Rakowicz, Wojtek
- Jones, David Hilton
- Jensen, Uffe Birk
- Wraige, Elizabeth
- Trump, Natalie
- Schara, Ulrike
- Lochmuller, Hanns
- Sarkozy, Anna
- Kingston, Helen
- Norwood, Fiona
- Damian, Maxwell
- Kirschner, Janbernd
- Longman, Cheryl
- Roberts, Mark
- Auer-Grumbach, Michaela
- Hughes, Imelda
- Bushby, Kate
- Sewry, Caroline
- Robb, Stephanie
- Abbs, Stephen
- Jungbluth, Heinz
- Muntoni, Francesco
2012
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Acta neuropathologica, 2017-12, Vol.134 (6), p.889-904
- Biancalana, Valérie
- Scheidecker, Sophie
- Miguet, Marguerite
- Laquerrière, Annie
- Romero, Norma B.
- Stojkovic, Tanya
- Abath Neto, Osorio
- Mercier, Sandra
- Voermans, Nicol
- Tanner, Laura
- Rogers, Curtis
- Ollagnon-Roman, Elisabeth
- Roper, Helen
- Boutte, Célia
- Ben-Shachar, Shay
- Lornage, Xavière
- Vasli, Nasim
- Schaefer, Elise
- Laforet, Pascal
- Pouget, Jean
- Moerman, Alexandre
- Pasquier, Laurent
- Marcorelle, Pascale
- Magot, Armelle
- Küsters, Benno
- Streichenberger, Nathalie
- Tranchant, Christine
- Dondaine, Nicolas
- Schneider, Raphael
- Gasnier, Claire
- Calmels, Nadège
- Kremer, Valérie
- Nguyen, Karine
- Perrier, Julie
- Kamsteeg, Erik Jan
- Carlier, Pierre
- Carlier, Robert-Yves
- Thompson, Julie
- Boland, Anne
- Deleuze, Jean-François
- Fardeau, Michel
- Zanoteli, Edmar
- Eymard, Bruno
- Laporte, Jocelyn
2017
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Neuropathology and applied neurobiology, 2022-02, Vol.48 (2), p.e12771-n/a
2022
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American journal of human genetics, 2017-03, Vol.100 (3), p.523-536
- Wiessner, Manuela
- Roos, Andreas
- Munn, Christopher J.
- Viswanathan, Ranjith
- Whyte, Tamieka
- Cox, Dan
- Schoser, Benedikt
- Sewry, Caroline
- Roper, Helen
- Phadke, Rahul
- Marini Bettolo, Chiara
- Barresi, Rita
- Charlton, Richard
- Bönnemann, Carsten G.
- Abath Neto, Osório
- Reed, Umbertina C.
- Zanoteli, Edmar
- Araújo Martins Moreno, Cristiane
- Ertl-Wagner, Birgit
- Stucka, Rolf
- De Goede, Christian
- Borges da Silva, Tamiris
- Hathazi, Denisa
- Dell’Aica, Margherita
- Zahedi, René P.
- Thiele, Simone
- Müller, Juliane
- Kingston, Helen
- Müller, Susanna
- Curtis, Elizabeth
- Walter, Maggie C.
- Strom, Tim M.
- Straub, Volker
- Bushby, Kate
- Muntoni, Francesco
- Swan, Laura E.
- Lochmüller, Hanns
- Senderek, Jan
2017
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Clinical pharmacology in drug development, 2019-10, Vol.8 (7), p.922-933
2019
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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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The lancet child & adolescent health, 2018-10, Vol.2 (10), p.715-725
- Alber, Fabienne Dietrich
- Johnson, Anthony L
- Nolan, Melinda
- Pressler, Ronit
- Schmitt, Bernhard
- Verity, Christopher M
- Abdel Aziz, Maysara
- Acharya, Triloknath
- Jones, Robert
- Marsh, Ben
- Adejare, Kemi
- Adiga, Rashmi
- Ahmed, Mansoor
- Sawal, Mohammad
- Al-Kharusi, Asya
- Al-Moasseb, Hassan
- Atkinson, Patricia
- Ayonrinde, Kunle
- Bala, Pronab
- Basheer, Nigel
- Rittey, Chris
- Borusiak, Peter
- Cagnoli, Sabine
- Calvert, Sophie
- Chaniyil, Ramesh
- Chinthapalli, Ravi
- Chow, Gabriel
- Whitehouse, William
- de Goede, Christian
- Basu, Helen
- Della Marina, Adela
- Dison, Penelope
- Eaton, Megan
- Ellison, Julie
- Fallon, Penny
- Ratnayaka, Mal
- Warriner, Stephen
- Garcia, Maria
- Gibbs, John
- Gupta, Rajesh
- Harris, Siân
- Eltze, Christin
- Kaliakatsos, Marios
- Murugan, Velayutham
- Hindley, Daniel
- Hussain, Nahin
- Jacobs, Julia
- Jones, Simon
- Kennedy, Colin
- Whitney, Andrea
- Kneen, Rachel
- Iyer, Anand
- Kumar, Ramesh
- Lewis, Helen
- Lloyd Evans, Andrew
- Maddicks, Hilary
- Luecke, Thomas
- MacKay, Mark
- Freeman, Jeremy
- Hayman, Michael
- Ware, Tyson
- Mancais, Penny
- Marinaki, Katina
- Massarano, Albert
- Melville, Colin
- Muhle, Hiltrud
- Nagmeldin, Eisawi
- Nelapatla, Suresh
- Gondwe, Jailosi
- Newton, Richard
- Martland, Tim
- Olabi, Anas
- O'Neill, Kevin
- Panzer, Axel
- Theophil, Manuela
- Smith, Martin
- Parker, Alasdair
- Chitre, Manali
- Philip, Sunny
- Pike, Mike
- Pridmore, Clair
- Krieg, Peter
- Rifkin, Rob
- Rowlandson, Piers
- Sadleir, Lynette
- O'Sullivan, Siobhan
- Rao, Sudhakar
- Schubert-Bast, Susanne
- Scott, Fraser
- Butterfill, Andrew
- Shute, Pauline
- Singh, Rajeeva
- Allogoa, Brigid
- Sivakumar, Puthuval
- Smith, Robert
- Sriskandan, Sivaranjini
- Steinert, Martin
- Strassburg, Michael
- Subramanian, Geeta
2018
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Neurology. Clinical practice, 2021-10, Vol.11 (5), p.e661-e668
2021
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BMJ open, 2018-12, Vol.8 (12), p.e022572-e022572
2018
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