Article
β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
Brain : a journal of neurology - 1 Jun 2013
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
Abstract excerpt
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in WDR45, a new...
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