Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown–Vialetto–Van Laere syndrome

por Nalini, Atchayaram, Pandraud, Amelie, Mok, Kin, Houlden, Henry
Publicado 2013

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease

por Kalmar, Bernadett, Innes, Amy, Wanisch, Klaus, Kolaszynska, Alicia Koyen, Pandraud, Amelie, Kelly, Gavin, Abramov, Andrey Y., Reilly, Mary M., Schiavo, Giampietro, Greensmith, Linda
Publicado 2017

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

por 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
Publicado 2017

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por 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, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014