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Thimerosal exposure in infants and neurodevelopmental disorders: An assessment of computerized medical records in the Vaccine Safety Datalink
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[Epub ahead of print] An interesting report not only of a mitochondrial dysfunction on autism, but also of a strong association with allergies
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Palmieri, L.1
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25
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Involvement of the PRKCB1 gene in autistic disorder: Significant genetic association and reduced neocortical gene expression
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Lintas C, Sacco R, Garbett K, et al. Involvement of the PRKCB1 gene in autistic disorder: significant genetic association and reduced neocortical gene expression. Mol Psychiatry 2008;14(7):705-718
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Persico, A.M.1
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27
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Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT
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A potential rapid screening of a genetic problem associated with a small percentage of autistic cases
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Cai G, Edelmann L, Goldsmith JE, et al. Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT. BMC Med Genomics 2008;1:50 A potential rapid screening of a genetic problem associated with a small percentage of autistic cases.
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BMC Med Genomics
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28
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67349112868
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Common genetic variants on 5p14.1 associate with autism spectrum disorders
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Important study showing gene abnormalities associated with encoding neuronal cell adhesion molecules in autism
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Nature
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Wang, K.1
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Ma, D.3
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29
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67349182343
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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Important study showing gene abnormalities associated with encoding neuronal cell adhesion molecules in autism
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Glessner JT, Wang K, Cai G, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009;459:569-573 Important study showing gene abnormalities associated with encoding neuronal cell adhesion molecules in autism.
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Nature
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Glessner, J.T.1
Wang, K.2
Cai, G.3
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30
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High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene
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[Epub ahead of print] Important study showing gene abnormalities associated with encoding neuronal cell calcium channels in autism
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Strom SP, Stone JL, Ten B, et al. High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Mol Psychiatry 2009. [Epub ahead of print] Important study showing gene abnormalities associated with encoding neuronal cell calcium channels in autism.
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Mol Psychiatry
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Strom, S.P.1
Stone, J.L.2
Ten, B.3
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31
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James SJ, Melnyk S, Jernigan S, et al. Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism. Am J Med Genet B Neuropsychiatr Genet 2006;141(8):947-956 (Pubitemid 44905454)
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James, S.J.1
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James SJ, Cutler P, Melnyk S, et al. Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. Am J Clin Nutr 2004;80(6):1611-1617 (Pubitemid 41103861)
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James, S.J.1
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Carvalho CM, Chew EH, Hashemy SI, et al. Inhibition of the human thioredoxin system. A molecular mechanism of mercury toxicity. J Biol Chem 2008;283(18):11913-11923
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J Biol Chem
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James SJ, Rose S, Melnyk S, et al. Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB 2009. [Epub ahead of print]
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FASEB
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35
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Important study showing increased oxidative stress and reduced detoxification ability in patients with ASDs
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Geier DA, Kern JK, Garver CR, et al. A prospective study of transsulfuration biomarkers in autistic disorders. Neurochem Res 2009;34(2):386-393 Important study showing increased oxidative stress and reduced detoxification ability in patients with ASDs.
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Neurochem Res
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Geier, D.A.1
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Biomarkers of environmental toxicity and susceptibility in autism
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Important study showing increased oxidative stress and reduced detoxification ability, especially for mercury, in patients with ASDs
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Geier DA, Kern JK, Garver CR, et al. Biomarkers of environmental toxicity and susceptibility in autism. J Neurol Sci 2008;280(1-2):101-108 Important study showing increased oxidative stress and reduced detoxification ability, especially for mercury, in patients with ASDs.
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J Neurol Sci
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Geier, D.A.1
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Oxidative stress in autism: Elevated cerebellar 3-nitrotyrosine levels
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Sajdel-Sulkowska EM, Lipinski B, Windom H, et al. Oxidative stress in autism: elevated cerebellar 3-nitrotyrosine levels. AM J Biochem Biotechnol 2008;4:73-84 Important study showing increased oxidative stress and increased mercury levels in the cerebellum of patients with ASDs. (Pubitemid 351573641)
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American Journal of Biochemistry and Biotechnology
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, pp. 73-84
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Sajdel-Sulkowska, E.M.1
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Investigation of antioxidant enzymes in children with autistic disorder
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Yorbik O, Sayal A, Akay C, et al. Investigation of antioxidant enzymes in children with autistic disorder. Prostaglandins Leukot Essent Fatty Acids 2002;67(5):341-343 (Pubitemid 35397373)
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Yorbik, O.1
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Abnormal transmethylation/ transsulfuration metabolism and DNA hypomethylation among parents of children with autism
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James JS, Melnyk S, Jernigan S, et al. Abnormal transmethylation/ transsulfuration metabolism and DNA hypomethylation among parents of children with autism. J Autism Dev Disord 2008;38(10):1966-1975
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J Autism Dev Disord
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James, J.S.1
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40
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4444347472
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Oxidative stress in autism: Increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin - The antioxidant proteins
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Chauhan A, Chauhan V, Brown WT, Cohen I. Oxidative stress in autism: increased lipid peroxidation and reduced serum levels of ceruloplasmin and transferrin-the antioxidant proteins. Life Sci 2004;75(21):2539-2549 (Pubitemid 39195260)
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Yao Y, Walsh WJ, McGinnis WR, Pratico D. Altered vascular phenotype in autism: correlation with oxidative stress. Arch Neurol 2006;63(8):1161-1164 (Pubitemid 44232325)
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Archives of Neurology
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Important study showing that there is mitochondrial disease and also a high prevalence of GI symptoms in patients with ASDs
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Weissman JR, Kelley RI, Bauman ML, et al. Mitochondrial disease in autism spectrum disorder patients: A cohort analysis. PloS One 2008;3(11):e3815 Important study showing that there is mitochondrial disease and also a high prevalence of GI symptoms in patients with ASDs.
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PloS One
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Weissman, J.R.1
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How environmental and genetic factors combine to cause autism: A redox/methylation hypothesis
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Useful review summarizing the evidence for reduced capacity to neutralize free oxygen radicals in ASDs
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Deth R, Muratore C, Benzecry J, et al. How environmental and genetic factors combine to cause autism: a redox/methylation hypothesis. Neurotoxicology 2008;29(1):190-201 Useful review summarizing the evidence for reduced capacity to neutralize free oxygen radicals in ASDs.
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Deth, R.1
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Good review of evidence of brain inflammation in ASDs
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Is autism an autoimmune disease?
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Good review of evidence of brain autoantibodies in ASDs
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Ashwood P, van de Water J. Is autism an autoimmune disease? Autoimmun Rev 2004;3(7-8):557-562 Good review of evidence of brain autoantibodies in ASDs.
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Ashwood P, Wills S, van de Water J. The immune response in autism: a new frontier for autism research. J Leukoc Biol 2006;80(1):1-15 (Pubitemid 44841805)
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Singer HS, Morris CM, Gause CD, et al. Antibodies against fetal brain in sera of mothers with autistic children. J Neuroimmunol 2008;194(1-2):165-172 Important study showing antifetal brain antibodies in mothers of autistic children, suggesting that the fetal BBB was disrupted in utero.
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Important study showing antifetal brain antibodies in mothers of autistic children, suggesting that the fetal BBB was disrupted in utero
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Braunschweig D, Ashwood P, Krakowiak P, et al. Autism: maternally derived antibodies specific for fetal brain proteins. Neurotoxicology 2008;29(2):226-231 Important study showing antifetal brain antibodies in mothers of autistic children, suggesting that the fetal BBB was disrupted in utero.
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