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Cochrane database of systematic reviews, 2016-05, Vol.2016 (5), p.CD003725
2016
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PloS one, 2019-09, Vol.14 (9), p.e0221097-e0221097
2019
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Developmental medicine and child neurology, 2022-08, Vol.64 (8), p.979-988
- Zambon, Alberto A.
- Ayyar Gupta, Vandana
- Ridout, Deborah
- Manzur, Adnan Y.
- Baranello, Giovanni
- Trucco, Federica
- Muntoni, Francesco
- Tirupath, Sandya
- Douglas, Melanie
- McFetridge, Jaci
- Parasuraman, Deepak
- Alhaswani, Zoya
- McMurchie, Heather
- Rabb, Rosanna
- Majumdar, Anirban
- Vijayakumar, Kayal
- Amin, Sam
- Mason, Faye
- Frimpong‐Ansah, Claire
- Gibbon, Frances
- Parson, Bethan
- Naismith, Karen
- Burslem, Julie
- Baxter, Alex
- Eadie, Clare
- Horrocks, Iain
- Di Marco, Marina
- Childs, Anne‐Marie
- Pallant, Lindsey
- Spinty, Stefan
- Shillington, Alison
- Gregson, Sarah
- Cheshman, Laura
- Wraige, Elizabeth
- Gowda, Vasantha
- Jungbluth, Heinz
- Sheehan, Jennie
- Hughes, Imelda
- Warner, Sinead
- Straub, Volker
- Guglieri, Michela
- Mayhew, Anna
- Chow, Gabby
- Williamson, Sarah
- Willis, Tracey
- Kulshrestha, Richa
- Emery, Nicholas
- Ramdas, Sithara
- Ramjattan, Hayley
- de Goede, Christian
- Selley, Andrea
- Ong, Min
- White, Kay
- Illingworth, Marjorie
- Geary, Michelle
- Palmer, Jenni
- White, Cathy
- Greenfield, Kate
- Hewawitharana, Gemunu
- Julien, Yvonne
- Stephens, Elma
- Tewnion, Jane
- Ambegaonkar, Gautam
- Krishnakumar, Deepa
- Taylor, Jacqui
- Ward, Catherine
- Wright, Elizabeth
- Rylance, Claire
2022
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Annals of neurology, 2017-04, Vol.81 (4), p.597-603
- Salpietro, Vincenzo
- Lin, Weichun
- Delle Vedove, Andrea
- Storbeck, Markus
- Liu, Yun
- Efthymiou, Stephanie
- Manole, Andreea
- Wiethoff, Sarah
- Ye, Qiaohong
- Saggar, Anand
- McElreavey, Kenneth
- Krishnakumar, Shyam S.
- Pitt, Matthew
- Bello, Oscar D.
- Rothman, James E.
- Basel‐Vanagaite, Lina
- Hubshman, Monika Weisz
- Aharoni, Sharon
- Manzur, Adnan Y.
- Wirth, Brunhilde
- Houlden, Henry
2017
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PloS one, 2023-04, Vol.18 (4), p.e0283669-e0283669
- Ayyar Gupta, Vandana
- Pitchforth, Jacqueline M
- Domingos, Joana
- Ridout, Deborah
- Iodice, Mario
- Rye, Catherine
- Chesshyre, Mary
- Wolfe, Amy
- Selby, Victoria
- Mayhew, Anna
- Mazzone, Elena S
- Ricotti, Valeria
- Hogrel, Jean-Yves
- Niks, Erik H
- de Groot, Imelda
- Servais, Laurent
- Straub, Volker
- Mercuri, Eugenio
- Manzur, Adnan Y
- Muntoni, Francesco
- Alway, Stephen E
2023
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Nature genetics, 2011-12, Vol.43 (12), p.1189-1192
- LOGAN, Clare V
- LUCKE, Barbara
- ELLIS, Ian
- MANZUR, Adnan Y
- MARKHAM, Alexander F
- SHIRES, Mike
- HELLIWELL, Tim
- SCOTO, Mariacristina
- HÜBNER, Christoph
- BONTHRON, David T
- TAYLOR, Graham R
- SHERIDAN, Eamonn
- POTTINGER, Caroline
- MUNTONI, Francesco
- CARR, Ian M
- SCHUELKE, Markus
- JOHNSON, Colin A
- ABDELHAMED, Zakia A
- PARRY, David A
- SZYMANSKA, Katarzyna
- DIGGLE, Christine P
- RIESEN, Anne Van
- MORGAN, Joanne E
- MARKHAM, Grace
2011
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Human mutation, 2013-07, Vol.34 (7), p.986-996
2013
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Annals of clinical and translational neurology, 2020-11, Vol.7 (11), p.2288-2296
2020
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Human molecular genetics, 2017-01, Vol.26 (2), p.320-332
2017
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Neurology, 2015-01, Vol.84 (1), p.28
2015
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Journal of neurology, neurosurgery and psychiatry, 2013-06, Vol.84 (6), p.698-705
2013
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Neurology, 2023-04, Vol.100 (15), p.e1540
- Muntoni, Francesco
- Signorovitch, James
- Sajeev, Gautam
- Lane, Henry
- Jenkins, Madeline
- Dieye, Ibrahima
- Ward, Susan J
- McDonald, Craig
- Goemans, Nathalie
- Niks, Erik H
- Wong, Brenda
- Servais, Laurent
- Straub, Volker
- Guglieri, Michela
- de Groot, Imelda J M
- Chesshyre, Mary
- Tian, Cuixia
- Manzur, Adnan Y
- Mercuri, Eugenio
- Aartsma-Rus, Annemieke
2023
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Journal of medical genetics, 2018-08, Vol.55 (8), p.515
- Garone, Caterina
- Taylor, Robert W
- Nascimento, Andrés
- Poulton, Joanna
- Fratter, Carl
- Domínguez-González, Cristina
- Evans, Julie C
- Loos, Mariana
- Isohanni, Pirjo
- Suomalainen, Anu
- Ram, Dipak
- Hughes, M Imelda
- McFarland, Robert
- Barca, Emanuele
- Lopez Gomez, Carlos
- Jayawant, Sandeep
- Thomas, Neil D
- Manzur, Adnan Y
- Kleinsteuber, Karin
- Martin, Miguel A
- Kerr, Timothy
- Gorman, Grainne S
- Sommerville, Ewen W
- Chinnery, Patrick F
- Hofer, Monika
- Karch, Christoph
- Ralph, Jeffrey
- Cámara, Yolanda
- Madruga-Garrido, Marcos
- Domínguez-Carral, Jana
- Ortez, Carlos
- Emperador, Sonia
- Montoya, Julio
- Chakrapani, Anupam
- Kriger, Joshua F
- Schoenaker, Robert
- Levin, Bruce
- Thompson, John L P
- Long, Yuelin
- Rahman, Shamima
- Donati, Maria Alice
- DiMauro, Salvatore
- Hirano, Michio
2018
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Brain (London, England : 1878), 2007-10, Vol.130 (10), p.2725-2735
- Godfrey, Caroline
- Clement, Emma
- Mein, Rachael
- Brockington, Martin
- Smith, Janine
- Talim, Beril
- Straub, Volker
- Robb, Stephanie
- Quinlivan, Ros
- Feng, Lucy
- Jimenez-Mallebrera, Cecilia
- Mercuri, Eugenio
- Manzur, Adnan Y.
- Kinali, Maria
- Torelli, Silvia
- Brown, Susan C.
- Sewry, Caroline A.
- Bushby, Kate
- Topaloglu, Haluk
- North, Kathryn
- Abbs, Stephen
- Muntoni, Francesco
2007
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Journal of neurology, neurosurgery and psychiatry, 2016-02, Vol.87 (2), p.149-155
2016
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The Journal of pediatrics, 2017-09, Vol.188, p.181-185.e6
2017
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Neurology, 2015-02, Vol.84 (7), p.668
- Scoto, Mariacristina
- Rossor, Alexander M
- Harms, Matthew B
- Cirak, Sebahattin
- Calissano, Mattia
- Robb, Stephanie
- Manzur, Adnan Y
- Martínez Arroyo, Amaia
- Rodriguez Sanz, Aida
- Mansour, Sahar
- Fallon, Penny
- Hadjikoumi, Irene
- Klein, Andrea
- Yang, Michele
- De Visser, Marianne
- Overweg-Plandsoen, W C G Truus
- Baas, Frank
- Taylor, J Paul
- Benatar, Michael
- Connolly, Anne M
- Al-Lozi, Muhammad T
- Nixon, John
- de Goede, Christian G E L
- Foley, A Reghan
- Mcwilliam, Catherine
- Pitt, Matthew
- Sewry, Caroline
- Phadke, Rahul
- Hafezparast, Majid
- Chong, W K Kling
- Mercuri, Eugenio
- Baloh, Robert H
- Reilly, Mary M
- Muntoni, Francesco
2015
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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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Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.765-781
- Byrne, Susan
- Jansen, Lara
- U-King-Im, Jean-Marie
- Siddiqui, Ata
- Lidov, Hart G W
- Bodi, Istvan
- Smith, Luke
- Mein, Rachael
- Cullup, Thomas
- Dionisi-Vici, Carlo
- Al-Gazali, Lihadh
- Al-Owain, Mohammed
- Bruwer, Zandre
- Al Thihli, Khalid
- El-Garhy, Rana
- Flanigan, Kevin M
- Manickam, Kandamurugu
- Zmuda, Erik
- Banks, Wesley
- Gershoni-Baruch, Ruth
- Mandel, Hanna
- Dagan, Efrat
- Raas-Rothschild, Annick
- Barash, Hila
- Filloux, Francis
- Creel, Donnell
- Harris, Michael
- Hamosh, Ada
- Kölker, Stefan
- Ebrahimi-Fakhari, Darius
- Hoffmann, Georg F
- Manchester, David
- Boyer, Philip J
- Manzur, Adnan Y
- Lourenco, Charles Marques
- Pilz, Daniela T
- Kamath, Arveen
- Prabhakar, Prab
- Rao, Vamshi K
- Rogers, R Curtis
- Ryan, Monique M
- Brown, Natasha J
- McLean, Catriona A
- Said, Edith
- Schara, Ulrike
- Stein, Anja
- Sewry, Caroline
- Travan, Laura
- Wijburg, Frits A
- Zenker, Martin
- Mohammed, Shehla
- Fanto, Manolis
- Gautel, Mathias
- Jungbluth, Heinz
2016
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Chest, 2020-10, Vol.158 (4), p.1606-1616
2020
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Journal of neurology, neurosurgery and psychiatry, 2018-11, Vol.89 (11), p.1230
2018
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Neurology, 2016-10, Vol.87 (15), p.1607
2016
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Archives of disease in childhood, 2016-10, Vol.101 (10), p.957-961
2016
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European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1249-1252
2013
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Genetics in medicine, 2018-01, Vol.20 (1), p.42-54
- Giunta, Cecilia
- Baumann, Matthias
- Fauth, Christine
- Lindert, Uschi
- Abdalla, Ebtesam M.
- Brady, Angela F.
- Collins, James
- Dastgir, Jahannaz
- Donkervoort, Sandra
- Ghali, Neeti
- Johnson, Diana S.
- Kariminejad, Ariana
- Koch, Johannes
- Kraenzlin, Marius
- Lahiri, Nayana
- Lozic, Bernarda
- Manzur, Adnan Y.
- Morton, Jenny E.V.
- Pilch, Jacek
- Pollitt, Rebecca C.
- Schreiber, Gudrun
- Shannon, Nora L.
- Sobey, Glenda
- Vandersteen, Anthony
- van Dijk, Fleur S.
- Witsch-Baumgartner, Martina
- Zschocke, Johannes
- Pope, F. Michael
- Bönnemann, Carsten G.
- Rohrbach, Marianne
2018
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