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Title:

?-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
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; Heron, Delphine; Saunders, Dawn E; Kaminska, Margaret; Lin, Jean-Pierre; Lascelles, Karine; Cuno, Stephan M; Meyer, Esther; Garavaglia...     »
Abstract:
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 causative gene for neurodegeneration with brain iron accumulation located on the X chromo...     »
Journal title abbreviation:
Brain
Year:
2013
Journal volume:
136
Journal issue:
Pt 6
Pages contribution:
1708-17
Language:
eng
Fulltext / DOI:
doi:10.1093/brain/awt095
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/23687123
Print-ISSN:
0006-8950
TUM Institution:
Institut für Humangenetik
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