Foley, A. ReghanMenezes, Manoj P.Pandraud, AmelieGonzalez, Michael A.Al-Odaib, AhmadAbrams, Alexander J.Sugano, KumikoYonezawa, AtsushiManzur, Adnan Y.Burns, JoshuaHughes, ImeldaMcCullagh, B. GaryJungbluth, HeinzLim, Ming J.Lin, Jean-PierreMegarbane, AndreUrtizberea, J. AndoniShah, Ayaz H.Antony, JayneWebster, RichardBroomfield, AlexanderNg, JoanneMathew, Ann A.O'Byrne, James J.Forman, EvaScoto, MariacristinaPrasad, ManishO'Brien, KatherineOlpin, SimonOppenheim, MarcusHargreaves, IainLand, John M.Wang, Min X.Carpenter, KevinHorvath, RitaStraub, VolkerLek, MonkolGold, WendyFarrell, Michael O.Brandner, SebastianPhadke, RahulMatsubara, KazuoMcGarvey, Michael L.Scherer, Steven S.Baxter, Peter S.King, Mary D.Clayton, PeterRahman, ShamimaReilly, Mary M.Ouvrier, Robert A.Christodoulou, JohnZuechner, StephanMuntoni, FrancescoHoulden, Henry2014-08-282014-08-282014-01Foley, 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/awt3150006-8950http://hdl.handle.net/2164/3396131185321engchildhood neuronopathyBrown-Vialetto-Van Laere syndromeriboflavin therapyRFVT2SLC52A2Vialetto-Van-LaereFazio-Londe-Diseaseautosomal recessive inheritanceprogressive bulbar paralysispontobulbar palsyVanlaere syndromedeafnessoverlapfamilybrainR MedicineRTreatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2Journal article10.1093/brain/awt3151371