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      Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

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      Brain_2014_Foley_44_56.pdf (1.130Mb)
      Publication date
      01/2014
      Author
      Foley, A. Reghan
      Menezes, Manoj P.
      Pandraud, Amelie
      Gonzalez, Michael A.
      Al-Odaib, Ahmad
      Abrams, Alexander J.
      Sugano, Kumiko
      Yonezawa, Atsushi
      Manzur, Adnan Y.
      Burns, Joshua
      Hughes, Imelda
      McCullagh, B. Gary
      Jungbluth, Heinz
      Lim, Ming J.
      Lin, Jean-Pierre
      Megarbane, Andre
      Urtizberea, J. Andoni
      Shah, Ayaz H.
      Antony, Jayne
      Webster, Richard
      Broomfield, Alexander
      Ng, Joanne
      Mathew, Ann A.
      O'Byrne, James J.
      Forman, Eva
      Scoto, Mariacristina
      Prasad, Manish
      O'Brien, Katherine
      Olpin, Simon
      Oppenheim, Marcus
      Hargreaves, Iain
      Land, John M.
      Wang, Min X.
      Carpenter, Kevin
      Horvath, Rita
      Straub, Volker
      Lek, Monkol
      Gold, Wendy
      Farrell, Michael O.
      Brandner, Sebastian
      Phadke, Rahul
      Matsubara, Kazuo
      McGarvey, Michael L.
      Scherer, Steven S.
      Baxter, Peter S.
      King, Mary D.
      Clayton, Peter
      Rahman, Shamima
      Reilly, Mary M.
      Ouvrier, Robert A.
      Christodoulou, John
      Zuechner, Stephan
      Muntoni, Francesco
      Houlden, Henry
      Metadata
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      Citation
      Foley , A R , Menezes , M P , Pandraud , A , Gonzalez , M A , Al-Odaib , A , Abrams , A J , Sugano , K , Yonezawa , A , Manzur , A Y , Burns , J , Hughes , I , McCullagh , B G , Jungbluth , H , Lim , M J , Lin , J-P , Megarbane , A , Urtizberea , J A , Shah , A H , Antony , J , Webster , R , Broomfield , A , Ng , J , Mathew , A A , O'Byrne , J J , Forman , E , Scoto , M , Prasad , M , O'Brien , K , Olpin , S , Oppenheim , M , Hargreaves , I , Land , J M , Wang , M X , Carpenter , K , Horvath , R , Straub , V , Lek , M , Gold , W , Farrell , M O , Brandner , S , Phadke , R , Matsubara , K , McGarvey , M L , Scherer , S S , Baxter , P S , King , M D , Clayton , P , Rahman , S , Reilly , M M , Ouvrier , R A , Christodoulou , J , Zuechner , S , Muntoni , F & Houlden , H 2014 , ' Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2 ' , Brain , vol. 137 , no. 1 , pp. 44-56 . https://doi.org/10.1093/brain/awt315
      URI
      http://hdl.handle.net/2164/3396
      DOI
      https://doi.org/10.1093/brain/awt315
      Rights
      CC-BY
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