Bibliography
- VRahimzadeh, GBartlett. Genetics and primary care: where are we headed? J Transl Med 2014;12:238
- LRBrunham, MRHayden. Hunting human disease genes: lessons from the past, challenges for the future. Hum Genet 2013;132:603-17
- SHKatsanis, NKatsanis. Molecular genetic testing and the future of clinical genomics. Nat Rev Genet 2013;14:415-26
- SASchneider, PDusek, JHardy, et al. Genetics and pathophysiology of neurodegeneration with brain iron accumulation (NBIA). Curr Neuropharmacol 2013;11:59-79
- TBHaack, PHogarth, MCKruer, et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 2012;91:1144-9
- HSaitsu, TNishimura, KMuramatsu, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013;45:445-9; 449e441
- CPaisan-Ruiz, KPBhatia, ALi, et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 2009;65:19-23
- CMarras, KLohmann, ALang, CKlein. Fixing the broken system of genetic locus symbols: parkinson disease and dystonia as examples. Neurology 2012;78:1016-24
- TKlopstock. News on TIRCON. In: Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside; RWaler, editor. Tremor Other Hyperkinet Mov (N Y) 2014
- CBettencourt, MRyten, SWiethoff, et al. Neurodegeneration with Brain Iron Accumulation (NBIA): insights from Gene Co-Expression Networks. In: Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside; RWaler, editor. Tremor Other Hyperkinet Mov (N Y) 2014
- GZorzi, FZibordi, LChiapparini, et al. Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: Results of a phase II pilot trial. Mov Disord 2011;26:1756-9
- BKalman, RLautenschlaeger, FKohlmayer, et al. An international registry for neurodegeneration with brain iron accumulation. Orphanet J Rare Dis 2012;7:66
- ARana, ESeinen, KSiudeja, et al. Pantethine rescues a Drosophila model for pantothenate kinase-associated neurodegeneration. Proc Natl Acad Sci USA 2010;107:6988-93
- RALambrechts, BSrinivasan, Mvan der Zwaag, et al. 4-thiobutyltriphenylphosphonium pantetheine, a novel pantetheine derivative. In: Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside; RWaler, editor. Tremor Other Hyperkinet Mov (N Y) 2014
- RKarda, SMBuckley, CNMattar, et al. Perinatal systemic gene delivery using adeno-associated viral vectors. Front Mol Neurosci 2014;7:89
- ACampanella, DPrivitera, MGuaraldo, et al. Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties. Hum Mol Genet 2012;21(18):4049-59
- BBrandl, SASchneider, JFLoring, et al. Stem cell reprogramming: basic implications and future perspective for movement disorders. Mov Disord 2014. [Epub ahead of print]
- SASchneider, UHSchneider, CKlein. Genetic testing for neurologic disorders. Semin Neurol 2011;31:542-52
- BCsányi, AGregory, PHogarth, et al. Best practices in the care and management of people with NBIA: development of a Guideline for PKAN. In: Proceedings of the Third Joint Symposium on Neuroacanthocytosis and Neurodegeneration with Brain Iron Accumulation: From Benchside to Bedside; RWaler, editor. Tremor Other Hyperkinet Mov (N Y) 2014
- LMei, QTang, BSun, LXu. Noninvasive prenatal testing in China: future detection of rare genetic diseases? Intractable Rare Dis Res 2014;3:87-90