Neurodegeneration with brain iron accumulation
Definition:
References:
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[1]. Andrzej Friedman, et al. Ferritin as an important player in neurodegeneration. Parkinsonism Relat Disord. 2011 Jul;17(6):423-30. [Content Brief]
[2]. Anthony Drecourt, et al. Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. Am J Hum Genet. 2018 Feb 1;102(2):266-277. [Content Brief]
[3]. Mahesh Kamate, et al. 'Eye-of-the-tiger' sign and classic pantothenate kinase associated neurodegeneration. Indian J Pediatr. 2011 Jan;78(1):121-2. [Content Brief]
[4]. Manju A Kurian, et al. Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Dev Med Child Neurol. 2011 May;53(5):394-404. [Content Brief]
[5]. Michael C Kruer, et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol. 2010 Nov;68(5):611-8. [Content Brief]
[6]. Penelope Hogarth, et al. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15;80(3):268-75. [Content Brief]
[7]. R Vidal, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol. 2004 Apr;63(4):363-80. [Content Brief]
[8]. Sabrina Dusi, et al. Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am J Hum Genet. 2014 Jan 2;94(1):11-22. [Content Brief]
[9]. Tobias B Haack, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet. 2012 Dec 7;91(6):1144-9. [Content Brief]