Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA by Haack, Tobias B., Hogarth, Penelope, Kruer, Michael C., Gregory, Allison, Wieland, Thomas, Schwarzmayr, Thomas, Graf, Elisabeth, Sanford, Lynn, Meyer, Esther, Kara, Eleanna, Cuno, Stephan M., Harik, Sami I., Dandu, Vasuki H., Nardocci, Nardo, Zorzi, Giovanna, Dunaway, Todd, Tarnopolsky, Mark, Skinner, Steven, Frucht, Steven, Hanspal, Era, Schrander-Stumpel, Connie, Héron, Delphine, Mignot, Cyril, Garavaglia, Barbara, Bhatia, Kailash, Hardy, John, Strom, Tim M., Boddaert, Nathalie, Houlden, Henry H., Kurian, Manju A., Meitinger, Thomas, Prokisch, Holger, Hayflick, Susan J.

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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation by HAYF LICK, Susan J, KRUER, Michael C, DANDU, Vasuki H, NARDOCCI, Nardo, ZORZI, Giovanna, DUNAWAY, Todd, TARNOPOLSKY, Mark, SKINNER, Steven, HOLDEN, Kenton R, FRUCHT, Steven, HANSPAL, Era, SCHRANDER-STUMPEL, Connie, GREGORY, Allison, MIGNOT, Cyril, HERON, Delphine, SAUNDERS, Dawn E, KAMINSKA, Margaret, LIN, Jean-Pierre, LASCELLES, Karine, CUNO, Stephan M, MEYER, Esther, GARAVAGLIA, Barbara, BHATIA, Kailash, HAACK, Tobias B, DE SILVA, Rajith, CRISP, Sarah, LUNT, Peter, CAREY, Martyn, HARDY, John, MEITINGER, Thomas, PROKISCH, Holger, HOGARTH, Penelope, KURIAN, Manju A, HOULDEN, Henry H, ANDERSON, James, BODDAERT, Nathalie, SANFORD, Lynn, HARIK, Sami I

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Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia by Tuschl, Karin, Meyer, Esther, Valdivia, Leonardo E., Zhao, Ningning, Dadswell, Chris, Abdul-Sada, Alaa, Hung, Christina Y., Simpson, Michael A., Chong, W. K., Jacques, Thomas S., Woltjer, Randy L., Eaton, Simon, Gregory, Allison, Sanford, Lynn, Kara, Eleanna, Houlden, Henry, Cuno, Stephan M., Prokisch, Holger, Valletta, Lorella, Tiranti, Valeria, Younis, Rasha, Maher, Eamonn R., Spencer, John, Straatman-Iwanowska, Ania, Gissen, Paul, Selim, Laila A. M., Pintos-Morell, Guillem, Coroleu-Lletget, Wifredo, Mohammad, Shekeeb S., Yoganathan, Sangeetha, Dale, Russell C., Thomas, Maya, Rihel, Jason, Bodamer, Olaf A., Enns, Caroline A., Hayflick, Susan J., Clayton, Peter T., Mills, Philippa B., Kurian, Manju A., Wilson, Stephen W.

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