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; et al. (Brain (London, England : 1878), 2013)
Keywords: Adolescent; Adult; Basal ganglia; Biological and medical sciences; Brain - metabolism; Carrier Proteins - genetics; Cohort Studies; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Female; Genetic Diseases, X-Linked - diagnosis; Genetic Diseases, X-Linked - genetics; Genetic Diseases, X-Linked - metabolism; Humans; Iron - metabolism; Male; Medical sciences; Middle Aged; Mutation - genetics; Neurodegenerative Diseases - diagnosis; Neurodegenerative Diseases - genetics; Neurodegenerative Diseases - metabolism; Neurology; Original; Young Adult; Nervous system diseases; autophagy; basal ganglia; Central nervous system; NBIA; Iron; Basal ganglion; Protein; Genetic disease; Cerebral disorder; Encephalon; Central nervous system disease; Rett syndrome; Degenerative disease; iron