Article
Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms.
Annual review of genomics and human genetics - 1 Jan 2015
Meyer Esther, Kurian Manju A, Hayflick Susan J
Abstract excerpt
Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of progressive disorders with the common feature of excessive iron deposition in the brain. Over the last decade, advances in sequencing technologies have greatly facilitated rapid gene discovery, and several single-gene disorders are now included in this group. Identification of the genetic bases of the NBIA disorders has...
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