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1, 2023
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The international journal of biochemistry & cell biology, 2014-03, Vol.48 (100), p.77-84
2014
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FEBS letters, 2018-03, Vol.592 (5), p.703-717
2018
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Essays in biochemistry, 2018-07, Vol.62 (3), p.321
2018
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Annals of neurology, 2015-05, Vol.77 (5), p.753-759
2015
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International journal of molecular sciences, 2023-05, Vol.24 (10), p.8505
2023
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Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1397
- Parikh, Sumit
- Goldstein, Amy
- Karaa, Amel
- Koenig, Mary Kay
- Anselm, Irina
- Brunel-Guitton, Catherine
- Christodoulou, John
- Cohen, Bruce H
- Dimmock, David
- Enns, Gregory M
- Falk, Marni J
- Feigenbaum, Annette
- Frye, Richard E
- Ganesh, Jaya
- Griesemer, David
- Haas, Richard
- Horvath, Rita
- Korson, Mark
- Kruer, Michael C
- Mancuso, Michelangelo
- McCormack, Shana
- Raboisson, Marie Josee
- Reimschisel, Tyler
- Salvarinova, Ramona
- Saneto, Russell P
- Scaglia, Fernando
- Shoffner, John
- Stacpoole, Peter W
- Sue, Carolyn M
- Tarnopolsky, Mark
- Van Karnebeek, Clara
- Wolfe, Lynne A
- Cunningham, Zarazuela Zolkipli
- Rahman, Shamima
- Chinnery, Patrick F
2017
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Brain (London, England : 1878), 2015-02, Vol.138 (2), p.276-283
2015
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Brain (London, England : 1878), 2023-03, Vol.146 (3), p.791-792
2023
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JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68
- Taylor, Robert W
- Pyle, Angela
- Griffin, Helen
- Blakely, Emma L
- Duff, Jennifer
- He, Langping
- Smertenko, Tania
- Alston, Charlotte L
- Neeve, Vivienne C
- Best, Andrew
- Yarham, John W
- Kirschner, Janbernd
- Schara, Ulrike
- Talim, Beril
- Topaloglu, Haluk
- Baric, Ivo
- Holinski-Feder, Elke
- Abicht, Angela
- Czermin, Birgit
- Kleinle, Stephanie
- Morris, Andrew A M
- Vassallo, Grace
- Gorman, Grainne S
- Ramesh, Venkateswaran
- Turnbull, Douglass M
- Santibanez-Koref, Mauro
- McFarland, Robert
- Horvath, Rita
- Chinnery, Patrick F
2014
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Cell reports (Cambridge), 2019-10, Vol.29 (5), p.1274-1286.e6
2019
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The Journal of clinical investigation, 2022-07, Vol.132 (13), p.1-15
2022
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Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.427-435
2015
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American journal of human genetics, 2016-06, Vol.98 (6), p.1130-1145
- Olsen, Rikke K.J.
- Koňaříková, Eliška
- Giancaspero, Teresa A.
- Mosegaard, Signe
- Boczonadi, Veronika
- Mataković, Lavinija
- Veauville-Merllié, Alice
- Terrile, Caterina
- Schwarzmayr, Thomas
- Haack, Tobias B.
- Auranen, Mari
- Leone, Piero
- Galluccio, Michele
- Imbard, Apolline
- Gutierrez-Rios, Purificacion
- Palmfeldt, Johan
- Graf, Elisabeth
- Vianey-Saban, Christine
- Oppenheim, Marcus
- Schiff, Manuel
- Pichard, Samia
- Rigal, Odile
- Pyle, Angela
- Chinnery, Patrick F.
- Konstantopoulou, Vassiliki
- Möslinger, Dorothea
- Feichtinger, René G.
- Talim, Beril
- Topaloglu, Haluk
- Coskun, Turgay
- Gucer, Safak
- Botta, Annalisa
- Pegoraro, Elena
- Malena, Adriana
- Vergani, Lodovica
- Mazzà, Daniela
- Zollino, Marcella
- Ghezzi, Daniele
- Acquaviva, Cecile
- Tyni, Tiina
- Boneh, Avihu
- Meitinger, Thomas
- Strom, Tim M.
- Gregersen, Niels
- Mayr, Johannes A.
- Horvath, Rita
- Barile, Maria
- Prokisch, Holger
2016
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Nature genetics, 2011-08, Vol.43 (8), p.806-810
2011
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Ophthalmology (Rochester, Minn.), 2010-08, Vol.117 (8), p.1538-1546.e1
2010
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Human molecular genetics, 2019-07, Vol.28 (14), p.2339-2351
2019
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Nature genetics, 2009-07, Vol.41 (7), p.833-837
2009
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Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2820-2837
- Manole, Andreea
- Jaunmuktane, Zane
- Hargreaves, Iain
- Ludtmann, Marthe H R
- Salpietro, Vincenzo
- Bello, Oscar D
- Pope, Simon
- Pandraud, Amelie
- Horga, Alejandro
- Scalco, Renata S
- Li, Abi
- Ashokkumar, Balasubramaniem
- Lourenço, Charles M
- Heales, Simon
- Horvath, Rita
- Chinnery, Patrick F
- Toro, Camilo
- Singleton, Andrew B
- Jacques, Thomas S
- Abramov, Andrey Y
- Muntoni, Francesco
- Hanna, Michael G
- Reilly, Mary M
- Revesz, Tamas
- Kullmann, Dimitri M
- Jepson, James E C
- Houlden, Henry
2017
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Brain (London, England : 1878), 2014-01, Vol.137 (Pt 1), p.44-56
- FOLEY, A. Reghan
- MENEZES, Manoj P
- HUGHES, Imelda
- MCCULLAGH, B. Gary
- JUNGBLUTH, Heinz
- LIM, Ming J
- LIN, Jean-Pierre
- MEGARBANE, Andre
- ANDONI URTIZBEREA, J
- SHAH, Ayaz H
- ANTONY, Jayne
- WEBSTER, Richard
- PANDRAUD, Amelie
- BROOMFIELD, Alexander
- NG, Joanne
- MATHEW, Ann A
- O'BYRNE, James J
- FORMAN, Eva
- SCOTO, Mariacristina
- PRASAD, Manish
- O'BRIEN, Katherine
- OLPIN, Simon
- OPPENHEIM, Marcus
- GONZALEZ, Michael A
- HARGREAVES, Iain
- LAND, John M
- WANG, Min X
- CARPENTER, Kevin
- HORVATH, Rita
- STRAUB, Volker
- LEK, Monkol
- GOLD, Wendy
- FARRELL, Michael O
- BRANDNER, Sebastian
- AL-ODAIB, Ahmad
- PHADKE, Rahul
- MATSUBARA, Kazuo
- McCGARVEY, Michael L
- SCHERER, Steven S
- BAXTER, Peter S
- KING, Mary D
- CLAYTON, Peter
- RAHMAN, Shamima
- REILLY, Mary M
- OUVRIER, Robert A
- ABRAMS, Alexander J
- CHRISTODOULOU, John
- ZÜCHNER, Stephan
- MUNTONI, Francesco
- HOULDEN, Henry
- SUGANO, Kumiko
- YONEZAWA, Atsushi
- MANZUR, Adnan Y
- BURNS, Joshua
2014
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Nature genetics, 2009-06, Vol.41 (6), p.654-656
2009
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JMIR research protocols, 2023-06, Vol.12, p.e45992-e45992
2023
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British journal of ophthalmology, 2014-05, Vol.98 (5), p.711-713
2014
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EMBO molecular medicine, 2020-03, Vol.12 (3), p.e11589-n/a
2020
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International journal of molecular sciences, 2018-12, Vol.19 (12), p.4072
2018
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