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Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)
Gavazzi, Francesco, Pierce, Samuel R., Vithayathil, Joseph, Cunningham, Kristin, Anderson, Kim, McCann, Jacob, Moll, Ashley, Muirhead, Kayla, Sherbini, Omar, Prange, Erin, Dubbs, Holly, Tochen, Laura, Fraser, Jamie, Helbig, Ingo, Lewin, Naomi, Thakur, Nivedita, Adang, Laura A.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Hayflick, Susan J., Kruer, Michael C., Gregory, Allison, Haack, Tobias B., Kurian, Manju A., Houlden, Henry H., Anderson, James, Boddaert, Nathalie, Sanford, Lynn, Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Holden, Kenton R., Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Mignot, Cyril, Héron, Delphine, Saunders, Dawn E., Kaminska, Margaret, Lin, Jean-Pierre, Lascelles, Karine, Cuno, Stephan M., Meyer, Esther, Garavaglia, Barbara, Bhatia, Kailash, de Silva, Rajith, Crisp, Sarah, Lunt, Peter, Carey, Martyn, Hardy, John, Meitinger, Thomas, Prokisch, Holger, Hogarth, Penelope
Published in Brain (London, England : 1878) (01.06.2013)
Published in Brain (London, England : 1878) (01.06.2013)
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Journal Article
Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration
Belohlavkova, Anezka, Sterbova, Katalin, Betzler, Cornelia, Burkhard, Stuve, Panzer, Axel, Wolff, Markus, Lassuthova, Petra, Vlckova, Marketa, Kyncl, Martin, Benova, Barbora, Jahodova, Alena, Kudr, Martin, Goerg, Maria, Dusek, Petr, Seeman, Pavel, Kluger, Gerhard, Krsek, Pavel
Published in European journal of paediatric neurology (01.09.2020)
Published in European journal of paediatric neurology (01.09.2020)
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Journal Article