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Annals of neurology, 2015-05, Vol.77 (5), p.753-759
2015
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EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a
2018
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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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European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.148-163
2023
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Genome Biology, 2020-09, Vol.21 (1), p.248-34, Article 248
2020
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Annals of neurology, 2008-01, Vol.63 (1), p.35-39
2008
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Human mutation, 2011-11, Vol.32 (11), p.1319-1325
2011
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Annals of neurology, 2022-01, Vol.91 (1), p.117-130
2022
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Nature communications, 2021-02, Vol.12 (1), p.1135-13, Article 1135
- Oláhová, Monika
- Peter, Bradley
- Szilagyi, Zsolt
- Diaz-Maldonado, Hector
- Singh, Meenakshi
- Sommerville, Ewen W
- Blakely, Emma L
- Collier, Jack J
- Hoberg, Emily
- Stránecký, Viktor
- Hartmannová, Hana
- Bleyer, Anthony J
- McBride, Kim L
- Bowden, Sasigarn A
- Korandová, Zuzana
- Pecinová, Alena
- Ropers, Hans-Hilger
- Kahrizi, Kimia
- Najmabadi, Hossein
- Tarnopolsky, Mark A
- Brady, Lauren I
- Weaver, K Nicole
- Prada, Carlos E
- Õunap, Katrin
- Wojcik, Monica H
- Pajusalu, Sander
- Syeda, Safoora B
- Pais, Lynn
- Estrella, Elicia A
- Bruels, Christine C
- Kunkel, Louis M
- Kang, Peter B
- Bonnen, Penelope E
- Mráček, Tomáš
- Kmoch, Stanislav
- Gorman, Gráinne S
- Falkenberg, Maria
- Gustafsson, Claes M
- Taylor, Robert W
2021
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PloS one, 2014-12, Vol.9 (12), p.e114462
2014
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Frontiers in physiology, 2023-06, Vol.14, p.1163496-1163496
2023
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The Journal of clinical investigation, 2022-07, Vol.132 (13)
- Shintaku, Jonathan
- Pernice, Wolfgang M
- Eyaid, Wafaa
- Gc, Jeevan B
- Brown, Zuben P
- Juanola-Falgarona, Marti
- Torres-Torronteras, Javier
- Sommerville, Ewen W
- Hellebrekers, Debby Mei
- Blakely, Emma L
- Donaldson, Alan
- van de Laar, Ingrid Mbh
- Leu, Cheng-Shiun
- Marti, Ramon
- Frank, Joachim
- Tanji, Kurenai
- Koolen, David A
- Rodenburg, Richard J
- Chinnery, Patrick F
- Smeets, H J M
- Gorman, Gráinne S
- Bonnen, Penelope E
- Taylor, Robert W
- Hirano, Michio
2022
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European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.769-775
2011
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Clinical science (1979), 2015-06, Vol.128 (12), p.895
2015
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EBioMedicine, 2018-04, Vol.30, p.86-93
- Ng, Yi Shiau
- Lax, Nichola Z.
- Maddison, Paul
- Alston, Charlotte L.
- Blakely, Emma L.
- Hepplewhite, Philippa D.
- Riordan, Gillian
- Meldau, Surita
- Chinnery, Patrick F.
- Pierre, Germaine
- Chronopoulou, Efstathia
- Du, Ailian
- Hughes, Imelda
- Morris, Andrew A.
- Kamakari, Smaragda
- Chrousos, Georgia
- Rodenburg, Richard J.
- Saris, Christiaan G.J.
- Feeney, Catherine
- Hardy, Steven A.
- Sakakibara, Takafumi
- Sudo, Akira
- Okazaki, Yasushi
- Murayama, Kei
- Mundy, Helen
- Hanna, Michael G.
- Ohtake, Akira
- Schaefer, Andrew M.
- Champion, Mike P.
- Turnbull, Doug M.
- Taylor, Robert W.
- Pitceathly, Robert D.S.
- McFarland, Robert
- Gorman, Gráinne S.
2018
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BMJ neurology open, 2022-12, Vol.4 (2), p.e000352
2022
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Journal of clinical medicine, 2020-03, Vol.9 (3), p.788
2020
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Biochimica et biophysica acta, 2010-02, Vol.1797 (2), p.113-128
2010
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Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.36-50
2020
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Journal of clinical medicine, 2019-06, Vol.8 (6), p.789
2019
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Investigative ophthalmology & visual science, 2010-07, Vol.51 (7), p.3340-3346
2010
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PLoS genetics, 2014-06, Vol.10 (6), p.e1004424-e1004424
- Yarham, John W
- Lamichhane, Tek N
- Pyle, Angela
- Mattijssen, Sandy
- Baruffini, Enrico
- Bruni, Francesco
- Donnini, Claudia
- Vassilev, Alex
- He, Langping
- Blakely, Emma L
- Griffin, Helen
- Santibanez-Koref, Mauro
- Bindoff, Laurence A
- Ferrero, Ileana
- Chinnery, Patrick F
- McFarland, Robert
- Maraia, Richard J
- Taylor, Robert W
- Larsson, Nils-Göran
2014
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Cerebellum & ataxias, 2015-12, Vol.2 (1), p.16-16, Article 16
2015
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Brain (London, England : 1878), 2008-02, Vol.131 (2), p.329-337
2008
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The FEBS journal, 2005-07, Vol.272 (14), p.3583-3592
2005
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