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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...Neuromuscular disorders : NMD, 2024-01, Vol.34, p.27-31
2024
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Practical neurology, 2021-02, Vol.21 (1), p.43-47
2021
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Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.2847-2858
- Halter, Joerg P
- Michael, W
- Schüpbach, M
- Mandel, Hanna
- Casali, Carlo
- Orchard, Kim
- Collin, Matthew
- Valcarcel, David
- Rovelli, Attilio
- Filosto, Massimiliano
- Dotti, Maria T
- Marotta, Giuseppe
- Pintos, Guillem
- Barba, Pere
- Accarino, Anna
- Ferra, Christelle
- Illa, Isabel
- Beguin, Yves
- Bakker, Jaap A
- Boelens, Jaap J
- de Coo, Irenaeus F M
- Fay, Keith
- Sue, Carolyn M
- Nachbaur, David
- Zoller, Heinz
- Sobreira, Claudia
- Pinto Simoes, Belinda
- Hammans, Simon R
- Savage, David
- Martí, Ramon
- Chinnery, Patrick F
- Elhasid, Ronit
- Gratwohl, Alois
- Hirano, Michio
2015
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JAMA neurology, 2016-12, Vol.73 (12), p.1433
- Lynch, David S
- Zhang, Wei Jia
- Lakshmanan, Rahul
- Kinsella, Justin A
- Uzun, Günes Altiokka
- Karbay, Merih
- Tüfekçioglu, Zeynep
- Hanagasi, Hasmet
- Burke, Georgina
- Foulds, Nicola
- Hammans, Simon R
- Bhattacharjee, Anupam
- Wilson, Heather
- Adams, Matthew
- Walker, Mark
- Nicoll, James A R
- Chataway, Jeremy
- Fox, Nick
- Davagnanam, Indran
- Phadke, Rahul
- Houlden, Henry
2016
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Neurology, 2013-01, Vol.80 (3), p.268-275
- Hogarth, Penelope
- Gregory, Allison
- Kruer, Michael C
- Sanford, Lynn
- Wagoner, Wendy
- Natowicz, Marvin R
- Egel, Robert T
- Subramony, S H
- Goldman, Jennifer G
- Berry-Kravis, Elizabeth
- Foulds, Nicola C
- Hammans, Simon R
- Desguerre, Isabelle
- Rodriguez, Diana
- Wilson, Callum
- Diedrich, Andrea
- Green, Sarah
- Tran, Huong
- Reese, Lindsay
- Woltjer, Randall L
- Hayflick, Susan J
2013
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Neuromuscular disorders : NMD, 2021-03, Vol.31 (3), p.249-252
2021
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Nature communications, 2024-10, Vol.15 (1), p.8955-1, Article 8955
- Cortese, Andrea
- Beecroft, Sarah J.
- Facchini, Stefano
- Curro, Riccardo
- Cabrera-Serrano, Macarena
- Stevanovski, Igor
- Chintalaphani, Sanjog R.
- Gamaarachchi, Hasindu
- Weisburd, Ben
- Folland, Chiara
- Monahan, Gavin
- Scriba, Carolin K.
- Dofash, Lein
- Johari, Mridul
- Grosz, Bianca R.
- Ellis, Melina
- Fearnley, Liam G.
- Tankard, Rick
- Read, Justin
- Merve, Ashirwad
- Dominik, Natalia
- Vegezzi, Elisa
- Schnekenberg, Ricardo P.
- Fernandez-Eulate, Gorka
- Masingue, Marion
- Giovannini, Diane
- Delatycki, Martin B.
- Storey, Elsdon
- Gardner, Mac
- Amor, David J.
- Nicholson, Garth
- Vucic, Steve
- Henderson, Robert D.
- Robertson, Thomas
- Dyke, Jason
- Fabian, Vicki
- Mastaglia, Frank
- Davis, Mark R.
- Kennerson, Marina
- Quinlivan, Ros
- Hammans, Simon
- Tucci, Arianna
- Bahlo, Melanie
- McLean, Catriona A.
- Laing, Nigel G.
- Stojkovic, Tanya
- Houlden, Henry
- Hanna, Michael G.
- Deveson, Ira W.
- Lockhart, Paul J.
- Lamont, Phillipa J.
- Fahey, Michael C.
- Bugiardini, Enrico
- Ravenscroft, Gianina
2024
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Nature communications, 2024-07, Vol.15 (1), p.6327-15, Article 6327
- Cortese, Andrea
- Beecroft, Sarah J.
- Facchini, Stefano
- Curro, Riccardo
- Cabrera-Serrano, Macarena
- Stevanovski, Igor
- Chintalaphani, Sanjog R.
- Gamaarachchi, Hasindu
- Weisburd, Ben
- Folland, Chiara
- Monahan, Gavin
- Scriba, Carolin K.
- Dofash, Lein
- Johari, Mridul
- Grosz, Bianca R.
- Ellis, Melina
- Fearnley, Liam G.
- Tankard, Rick
- Read, Justin
- Merve, Ashirwad
- Dominik, Natalia
- Vegezzi, Elisa
- Schnekenberg, Ricardo P.
- Fernandez-Eulate, Gorka
- Masingue, Marion
- Giovannini, Diane
- Delatycki, Martin B.
- Storey, Elsdon
- Gardner, Mac
- Amor, David J.
- Nicholson, Garth
- Vucic, Steve
- Henderson, Robert D.
- Robertson, Thomas
- Dyke, Jason
- Fabian, Vicki
- Mastaglia, Frank
- Davis, Mark R.
- Kennerson, Marina
- Quinlivan, Ros
- Hammans, Simon
- Tucci, Arianna
- Bahlo, Melanie
- McLean, Catriona A.
- Laing, Nigel G.
- Stojkovic, Tanya
- Houlden, Henry
- Hanna, Michael G.
- Deveson, Ira W.
- Lockhart, Paul J.
- Lamont, Phillipa J.
- Fahey, Michael C.
- Bugiardini, Enrico
- Ravenscroft, Gianina
2024
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Neurogenetics, 2017-04, Vol.18 (2), p.111-117
2017
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Human mutation, 2013-09, Vol.34 (9), p.1260-1268
- Blakely, Emma L.
- Yarham, John W.
- Alston, Charlotte L.
- Craig, Kate
- Poulton, Joanna
- Brierley, Charlotte
- Park, Soo-Mi
- Dean, Andrew
- Xuereb, John H.
- Anderson, Kirstie N.
- Compston, Alistair
- Allen, Chris
- Sharif, Saba
- Enevoldson, Peter
- Wilson, Martin
- Hammans, Simon R.
- Turnbull, Douglass M.
- McFarland, Robert
- Taylor, Robert W.
2013
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Scientific reports, 2015-05, Vol.5 (1), p.10042-10042, Article 10042
2015
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Journal of neurology, 2017-05, Vol.264 (5), p.979-988
- Wood, Libby
- Cordts, Isabell
- Atalaia, Antonio
- Marini-Bettolo, Chiara
- Maddison, Paul
- Phillips, Margaret
- Roberts, Mark
- Rogers, Mark
- Hammans, Simon
- Straub, Volker
- Petty, Richard
- Orrell, Richard
- Monckton, Darren G.
- Nikolenko, Nikoletta
- Jimenez-Moreno, Aura Cecilia
- Thompson, Rachel
- Hilton-Jones, David
- Turner, Chris
- Lochmüller, Hanns
2017
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Acta neuropathologica, 2011-03, Vol.121 (3), p.421-427
2011
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Journal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A73-A73
2023
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Journal of neurology, neurosurgery and psychiatry, 2023-11, Vol.94 (Suppl 1), p.A78-A78
2023
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Brain (London, England : 1878), 2006-02, Vol.129 (2), p.411-425
2006
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Annals of neurology, 2000-06, Vol.47 (6), p.792-800
- Nishino, Ichizo
- Spinazzola, Antonella
- Papadimitriou, Alexandros
- Hammans, Simon
- Steiner, Israel
- Hahn, Cecil D.
- Connolly, Anne M.
- Verloes, Alain
- Guimarães, João
- Maillard, Ivan
- Hamano, Hitoshi
- Donati, M. Alice
- Semrad, Carol E.
- Russell, James A.
- Andreu, Antonio L.
- Hadjigeorgiou, Giorgos M.
- Vu, Tuan H.
- Tadesse, Saba
- Nygaard, Torbjoern G.
- Nonaka, Ikuya
- Hirano, Ikuo
- Bonilla, Eduardo
- Rowland, Lewis P.
- DiMauro, Salvatore
- Hirano, Michio
2000
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Human genetics, 2005-03, Vol.116 (4), p.267-271
2005
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Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
2020
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Nature genetics, 2012-03, Vol.44 (3), p.338-342
- Anderson, Beverley H
- Kasher, Paul R
- Mayer, Josephine
- Szynkiewicz, Marcin
- Jenkinson, Emma M
- Bhaskar, Sanjeev S
- Urquhart, Jill E
- Daly, Sarah B
- Dickerson, Jonathan E
- O'Sullivan, James
- Leibundgut, Elisabeth Oppliger
- Muter, Joanne
- Abdel-Salem, Ghada M H
- Babul-Hirji, Riyana
- Baxter, Peter
- Berger, Andrea
- Bonafé, Luisa
- Brunstom-Hernandez, Janice E
- Buckard, Johannes A
- Chitayat, David
- Chong, Wui K
- Cordelli, Duccio M
- Ferreira, Patrick
- Fluss, Joel
- Forrest, Ewan H
- Franzoni, Emilio
- Garone, Caterina
- Hammans, Simon R
- Houge, Gunnar
- Hughes, Imelda
- Jacquemont, Sebastien
- Jeannet, Pierre-Yves
- Jefferson, Rosalind J
- Kumar, Ram
- Kutschke, Georg
- Lundberg, Staffan
- Lourenço, Charles M
- Mehta, Ramesh
- Naidu, Sakkubai
- Nischal, Ken K
- Nunes, Luís
- Õunap, Katrin
- Philippart, Michel
- Prabhakar, Prab
- Risen, Sarah R
- Schiffmann, Raphael
- Soh, Calvin
- Stephenson, John B P
- Stewart, Helen
- Stone, Jon
- Tolmie, John L
- van der Knaap, Marjo S
- Vieira, Jose P
- Vilain, Catheline N
- Wakeling, Emma L
- Wermenbol, Vanessa
- Whitney, Andrea
- Lovell, Simon C
- Meyer, Stefan
- Livingston, John H
- Baerlocher, Gabriela M
- Black, Graeme C M
- Rice, Gillian I
- Crow, Yanick J
2012
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Nature genetics, 2011-06, Vol.43 (6), p.595-600
- Klein, Christopher J
- Botuyan, Maria-Victoria
- Wu, Yanhong
- Ward, Christopher J
- Nicholson, Garth A
- Hammans, Simon
- Hojo, Kaori
- Yamanishi, Hiromitch
- Karpf, Adam R
- Wallace, Douglas C
- Simon, Mariella
- Lander, Cecilie
- Boardman, Lisa A
- Cunningham, Julie M
- Smith, Glenn E
- Litchy, William J
- Boes, Benjamin
- Atkinson, Elizabeth J
- Middha, Sumit
- B Dyck, P James
- Parisi, Joseph E
- Mer, Georges
- Smith, David I
- Dyck, Peter J
2011
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1, 2008
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Nature communications, 2022-04, Vol.13 (1), p.2306-18, 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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Brain (London, England : 1878), 2024-05, Vol.147 (5), p.1887-1898
- Currò, Riccardo
- Dominik, Natalia
- Facchini, Stefano
- Vegezzi, Elisa
- Sullivan, Roisin
- Galassi Deforie, Valentina
- Fernández-Eulate, Gorka
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- Rossi, Salvatore
- Garibaldi, Matteo
- Kwarciany, Mariusz
- Taroni, Franco
- Brusco, Alfredo
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- Cavalcanti, Francesca
- Hammans, Simon
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- Parolin Schnekenberg, Ricardo
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2024
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Muscle & nerve, 2018-03, Vol.57 (3), p.380-387
2018
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