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Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

dc.contributor.authorFoley, A. Reghan
dc.contributor.authorMenezes, Manoj P.
dc.contributor.authorPandraud, Amelie
dc.contributor.authorGonzalez, Michael A.
dc.contributor.authorAl-Odaib, Ahmad
dc.contributor.authorAbrams, Alexander J.
dc.contributor.authorSugano, Kumiko
dc.contributor.authorYonezawa, Atsushi
dc.contributor.authorManzur, Adnan Y.
dc.contributor.authorBurns, Joshua
dc.contributor.authorHughes, Imelda
dc.contributor.authorMcCullagh, B. Gary
dc.contributor.authorJungbluth, Heinz
dc.contributor.authorLim, Ming J.
dc.contributor.authorLin, Jean-Pierre
dc.contributor.authorMegarbane, Andre
dc.contributor.authorUrtizberea, J. Andoni
dc.contributor.authorShah, Ayaz H.
dc.contributor.authorAntony, Jayne
dc.contributor.authorWebster, Richard
dc.contributor.authorBroomfield, Alexander
dc.contributor.authorNg, Joanne
dc.contributor.authorMathew, Ann A.
dc.contributor.authorO'Byrne, James J.
dc.contributor.authorForman, Eva
dc.contributor.authorScoto, Mariacristina
dc.contributor.authorPrasad, Manish
dc.contributor.authorO'Brien, Katherine
dc.contributor.authorOlpin, Simon
dc.contributor.authorOppenheim, Marcus
dc.contributor.authorHargreaves, Iain
dc.contributor.authorLand, John M.
dc.contributor.authorWang, Min X.
dc.contributor.authorCarpenter, Kevin
dc.contributor.authorHorvath, Rita
dc.contributor.authorStraub, Volker
dc.contributor.authorLek, Monkol
dc.contributor.authorGold, Wendy
dc.contributor.authorFarrell, Michael O.
dc.contributor.authorBrandner, Sebastian
dc.contributor.authorPhadke, Rahul
dc.contributor.authorMatsubara, Kazuo
dc.contributor.authorMcGarvey, Michael L.
dc.contributor.authorScherer, Steven S.
dc.contributor.authorBaxter, Peter S.
dc.contributor.authorKing, Mary D.
dc.contributor.authorClayton, Peter
dc.contributor.authorRahman, Shamima
dc.contributor.authorReilly, Mary M.
dc.contributor.authorOuvrier, Robert A.
dc.contributor.authorChristodoulou, John
dc.contributor.authorZuechner, Stephan
dc.contributor.authorMuntoni, Francesco
dc.contributor.authorHoulden, Henry
dc.date.accessioned2014-08-28T15:27:01Z
dc.date.available2014-08-28T15:27:01Z
dc.date.issued2014-01
dc.identifier40057623
dc.identifierb9040a09-aebe-4ad4-a27a-2ab3f7c70fca
dc.identifier000330434000008
dc.identifier84892712366
dc.identifier.citationFoley , 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/awt315en
dc.identifier.issn0006-8950
dc.identifier.urihttp://hdl.handle.net/2164/3396
dc.format.extent13
dc.format.extent1185321
dc.language.isoeng
dc.relation.ispartofBrainen
dc.subjectchildhood neuronopathyen
dc.subjectBrown-Vialetto-Van Laere syndromeen
dc.subjectriboflavin therapyen
dc.subjectRFVT2en
dc.subjectSLC52A2en
dc.subjectVialetto-Van-Laereen
dc.subjectFazio-Londe-Diseaseen
dc.subjectautosomal recessive inheritanceen
dc.subjectprogressive bulbar paralysisen
dc.subjectpontobulbar palsyen
dc.subjectVanlaere syndromeen
dc.subjectdeafnessen
dc.subjectoverlapen
dc.subjectfamilyen
dc.subjectbrainen
dc.subjectR Medicineen
dc.subject.lccRen
dc.titleTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2en
dc.typeJournal articleen
dc.contributor.institutionUniversity of Aberdeen.University of Aberdeenen
dc.description.statusPeer revieweden
dc.identifier.doi10.1093/brain/awt315


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