Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.
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M. Elstner | T. Meitinger | T. Strom | V. Tiranti | H. Prokisch | H. Kretzschmar | J. Winkelmann | T. Gasser | G. Schmitz | T. Haack | S. Jóźwiak | C. Trenkwalder | V. Tarabin | M. Hempel | S. Roeber | T. Klopstock | K. Oexle | S. Dusi | K. Heim | T. Kmieć | E. Jurkiewicz | A. Iuso | M. Krajewska-Walasek | W. Mueller-Felber | M. Hartig | Monika B Hartig
[1] A. Gregory,et al. Genetics of Neurodegeneration with Brain Iron Accumulation , 2011, Current neurology and neuroscience reports.
[2] J. Hardy,et al. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) , 2010, Annals of neurology.
[3] J. Hardy,et al. Genetic Analysis of Pathways to Parkinson Disease , 2010, Neuron.
[4] Christian Gieger,et al. A genome-wide association study identifies three loci associated with mean platelet volume. , 2009, American journal of human genetics.
[5] J. Gomori,et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. , 2008, American journal of human genetics.
[6] Tatiana A. Tatusova,et al. NCBI Reference Sequences: current status, policy and new initiatives , 2008, Nucleic Acids Res..
[7] D. Hernandez,et al. Characterization of PLA2G6 as a locus for dystonia‐parkinsonism , 2008, Annals of neurology.
[8] Peter F. Johnson,et al. Transcriptional Regulation of Fatty Acid Translocase/CD36 Expression by CCAAT/Enhancer-binding Protein α* , 2008, Journal of Biological Chemistry.
[9] Colin A. Johnson,et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron , 2006, Nature Genetics.
[10] T. Meitinger,et al. Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation , 2006, Annals of neurology.
[11] M. Slatkin,et al. Estimating allele age. , 2003, Annual review of genomics and human genetics.
[12] T. Meitinger,et al. An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria. , 2003, Human molecular genetics.
[13] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.
[14] Shawn K. Westaway,et al. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome , 2001, Nature Genetics.
[15] J. Hughes,et al. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. , 1992, Journal of neurology, neurosurgery, and psychiatry.
[16] M. Schwartz,et al. Studies of RFLP closely linked to the cystic fibrosis locus throughout Europe lead to new considerations in populations genetics , 1990, Human Genetics.
[17] D. Bates,et al. Newton-Raphson and EM Algorithms for Linear Mixed-Effects Models for Repeated-Measures Data , 1988 .
[18] G. Abecasis,et al. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees , 2002, Nature Genetics.