{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:27:05Z","timestamp":1790774825818,"version":"4.1.0"},"reference-count":180,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2014,10,1]],"date-time":"2014-10-01T00:00:00Z","timestamp":1412121600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"IRE-IFO (RF2008)"},{"name":"ISS-Fasc.5%3A (LR)"},{"name":"Tufts University Neuroscience Institute"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuroscience &amp; Biobehavioral Reviews"],"published-print":{"date-parts":[[2014,10]]},"DOI":"10.1016\/j.neubiorev.2014.04.007","type":"journal-article","created":{"date-parts":[[2014,4,23]],"date-time":"2014-04-23T23:55:05Z","timestamp":1398297305000},"page":"270-284","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"special_numbering":"P2","title":["One-carbon metabolism in neurodevelopmental disorders: Using broad-based nutraceutics to treat cognitive deficits in complex spectrum disorders"],"prefix":"10.1016","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1591-381X","authenticated-orcid":false,"given":"Laura","family":"Schaevitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne","family":"Berger-Sweeney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Ricceri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neubiorev.2014.04.007_bib0005","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/ng0693-147","article-title":"Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain","volume":"4","author":"Abitbol","year":"1993","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0010","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/1743-7075-8-34","article-title":"Nutritional and metabolic status of children with autism vs. neurotypical children, and the association with autism severity","volume":"8","author":"Adams","year":"2011","journal-title":"Nutr. Metab."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0015","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/2040-2392-2-4","article-title":"Review of neuroimaging in autism spectrum disorders: what have we learned and where we go from here","volume":"2","author":"Anagnostou","year":"2011","journal-title":"Mol. Autism"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0020","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1016\/j.jnutbio.2012.03.003","article-title":"Nutrition and epigenetics: an interplay of dietary methyl donors, one-carbon metabolism and DNA methylation","volume":"23","author":"Anderson","year":"2012","journal-title":"J. Nutr. Biochem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0025","doi-asserted-by":"crossref","first-page":"1825","DOI":"10.1007\/s00394-013-0560-4","article-title":"Nutrition and neurodevelopment in children: focus on NUTRIMENTHE project","volume":"52","author":"Anjos","year":"2013","journal-title":"Eur. J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0030","doi-asserted-by":"crossref","first-page":"e69","DOI":"10.1038\/tp.2011.65","article-title":"Age-related change in brain metabolite abnormalities in autism: a meta-analysis of proton magnetic resonance spectroscopy studies","volume":"2","author":"Aoki","year":"2012","journal-title":"Transl. Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0035","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1097\/00005072-199503000-00006","article-title":"Selective dendritic alterations in the cortex of Rett syndrome","volume":"54","author":"Armstrong","year":"1995","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0040","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.ntt.2013.05.002","article-title":"Dietary and genetic manipulations of folate metabolism differentially affect neocortical functions in mice","volume":"38","author":"Ash","year":"2013","journal-title":"Neurotoxicol. Teratol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0045","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1126\/science.173.3997.598","article-title":"Noradrenaline: fate and control of its biosynthesis","volume":"173","author":"Axelrod","year":"1971","journal-title":"Science"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0050","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1007\/s00109-002-0396-5","article-title":"Elevated methyl-CpG-binding protein 2 expression is acquired during postnatal human brain development and is correlated with alternative polyadenylation","volume":"81","author":"Balmer","year":"2003","journal-title":"J. Mol. Med."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0055","doi-asserted-by":"crossref","first-page":"3133","DOI":"10.1016\/j.ridd.2013.06.040","article-title":"Early socio-communicative forms and functions in typical Rett syndrome","volume":"34","author":"Bartl-Pokorny","year":"2013","journal-title":"Res. Dev. Disabil."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0060","doi-asserted-by":"crossref","first-page":"1509","DOI":"10.1097\/00001756-199407000-00025","article-title":"Rett syndrome: 3-D confocal microscopy of cortical pyramidal dendrites and afferents","volume":"5","author":"Belichenko","year":"1994","journal-title":"Neuroreport"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0065","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1002\/cne.22009","article-title":"Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks","volume":"514","author":"Belichenko","year":"2009","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0070","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1542\/peds.72.5.707","article-title":"Vitamin and mineral supplementation in Down's syndrome","volume":"72","author":"Bennett","year":"1983","journal-title":"Pediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0075","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/S0149-7634(03)00070-8","article-title":"The cholinergic basal forebrain system during development and its influence on cognitive processes: important questions and potential answers","volume":"27","author":"Berger-Sweeney","year":"2003","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0080","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.nlm.2011.05.006","article-title":"Cognitive deficits in Rett syndrome: what we know and what we need to know to treat them","volume":"96","author":"Berger-Sweeney","year":"2011","journal-title":"Neurobiol. Learn. Mem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0900","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0166-4328(96)02251-6","article-title":"Behavioral consequences of abnormal cortical development: insights into developmental disabilities","volume":"86","author":"Berger-Sweeney","year":"1997","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0085","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1111\/j.1469-8749.1989.tb04032.x","article-title":"The effects of multivitamins and minerals on children with Down syndrome","volume":"31","author":"Bidder","year":"1989","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0090","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1038\/nrg1878","article-title":"Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized","volume":"7","author":"Bienvenu","year":"2006","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0095","doi-asserted-by":"crossref","first-page":"e8394","DOI":"10.1371\/journal.pone.0008394","article-title":"Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status","volume":"5","author":"Blehaut","year":"2010","journal-title":"PloS one"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0100","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1002\/ajmg.c.30277","article-title":"The behavioral phenotype of FMR1 mutations","volume":"154C","author":"Boyle","year":"2010","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0105","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/0002-9343(84)90349-8","article-title":"Folate metabolism and chromosomal stability in the fragile X syndrome","volume":"77","author":"Branda","year":"1984","journal-title":"Am. J. Med."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0110","doi-asserted-by":"crossref","first-page":"2043","DOI":"10.1093\/hmg\/6.12.2043","article-title":"The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome","volume":"6","author":"Brodsky","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0115","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/ajmg.1320230120","article-title":"High dose folic acid treatment of fragile (X) males","volume":"23","author":"Brown","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0120","first-page":"19","article-title":"Whole-brain voxel-based morphometry study of children and adolescents with Down syndrome","volume":"28","author":"Carducci","year":"2013","journal-title":"Funct. Neurol."},{"issue":"SS02","key":"10.1016\/j.neubiorev.2014.04.007_bib0125","first-page":"1","article-title":"Prevalence of autism spectrum disorders \u2013 Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2010","volume":"63","author":"CDC","year":"2014","journal-title":"MMWR Surveill. Summ."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0130","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/0006-291X(85)91641-9","article-title":"Cystathionine beta synthase: gene dosage effect in trisomy 21","volume":"128","author":"Chadefaux","year":"1985","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0135","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1126\/science.1153252","article-title":"MeCP2, a key contributor to neurological disease, activates and represses transcription","volume":"320","author":"Chahrour","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0140","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuron.2007.10.001","article-title":"The story of Rett syndrome: from clinic to neurobiology","volume":"56","author":"Chahrour","year":"2007","journal-title":"Neuron"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0145","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.3945\/ajcn.112.037184","article-title":"Phosphatidylcholine supplementation in pregnant women consuming moderate-choline diets does not enhance infant cognitive function: a randomized, double-blind, placebo-controlled trial","volume":"96","author":"Cheatham","year":"2012","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0150","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1038\/85906","article-title":"Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice","volume":"27","author":"Chen","year":"2001","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0155","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/j.neurobiolaging.2007.11.026","article-title":"In vivo MRI identifies cholinergic circuitry deficits in a Down syndrome model","volume":"30","author":"Chen","year":"2009","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0160","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/j.ajhg.2009.09.007","article-title":"Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA","volume":"85","author":"Coffee","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0165","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1111\/j.1471-4159.2006.03769.x","article-title":"Choline acetyltransferase activity at different ages in brain of Ts65Dn mice, an animal model for Down's syndrome and related neurodegenerative diseases","volume":"97","author":"Contestabile","year":"2006","journal-title":"J. Neurochem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0170","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.mrrev.2009.06.001","article-title":"The complex relationship between folate\/homocysteine metabolism and risk of Down syndrome","volume":"682","author":"Coppede","year":"2009","journal-title":"Mutat. Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0175","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1177\/088307389400900419","article-title":"Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain","volume":"9","author":"Cornford","year":"1994","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0180","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1016\/j.brainres.2010.09.101","article-title":"Brain growth across the life span in autism: age-specific changes in anatomical pathology","volume":"1380","author":"Courchesne","year":"2011","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0185","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0306-4522(03)00103-9","article-title":"Involvement of cholinergic and gabaergic systems in the fragile X knockout mice","volume":"119","author":"D\u2019Antuono","year":"2003","journal-title":"Neuroscience"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0190","doi-asserted-by":"crossref","first-page":"11263","DOI":"10.1523\/JNEUROSCI.1019-09.2009","article-title":"Intact long-term potentiation but reduced connectivity between neocortical layer 5 pyramidal neurons in a mouse model of Rett syndrome","volume":"29","author":"Dani","year":"2009","journal-title":"J. Neurosci.: Off. J. Soc. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0195","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1074\/jbc.M807651200","article-title":"Gestational choline supply regulates methylation of histone H3, expression of histone methyltransferases G9a (Kmt1c) and Suv39h1 (Kmt1a), and DNA methylation of their genes in rat fetal liver and brain","volume":"284","author":"Davison","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0200","doi-asserted-by":"crossref","first-page":"1152","DOI":"10.1038\/npp.2011.301","article-title":"Modulation of RhoGTPases improves the behavioral phenotype and reverses astrocytic deficits in a mouse model of Rett syndrome","volume":"37","author":"De Filippis","year":"2012","journal-title":"Neuropsychopharmacol.: Off. Publ. Am. Coll. Neuropsychopharmacol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0205","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1016\/j.neuro.2007.09.010","article-title":"How environmental and genetic factors combine to cause autism: a redox\/methylation hypothesis","volume":"29","author":"Deth","year":"2008","journal-title":"Neurotoxicology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0210","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1097\/WNF.0b013e3181d6f7ad","article-title":"Cholinergic abnormalities in autism: is there a rationale for selective nicotinic agonist interventions?","volume":"33","author":"Deutsch","year":"2010","journal-title":"Clin. Neuropharmacol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0215","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/S0387-7604(88)80010-X","article-title":"Abnormal mitochondria in the Rett syndrome","volume":"10","author":"Eeg-Olofsson","year":"1988","journal-title":"Brain Dev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0220","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1136\/bmj.39465.544028.AE","article-title":"Supplementation with antioxidants and folinic acid for children with Down's syndrome: randomised controlled trial","volume":"336","author":"Ellis","year":"2008","journal-title":"BMJ"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0225","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.addr.2004.01.001","article-title":"Distribution, functionality and gene regulation of folate receptor isoforms: implications in targeted therapy","volume":"56","author":"Elnakat","year":"2004","journal-title":"Adv. Drug Deliv. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0230","doi-asserted-by":"crossref","first-page":"58R","DOI":"10.1203\/pdr.0b013e3180457635","article-title":"Epigenetic regulation of neural gene expression and neuronal function","volume":"61","author":"Feng","year":"2007","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0235","doi-asserted-by":"crossref","first-page":"41","DOI":"10.3945\/jn.112.169821","article-title":"Reduced MTHFD1 activity in male mice perturbs folate- and choline-dependent one-carbon metabolism as well as transsulfuration","volume":"143","author":"Field","year":"2012","journal-title":"J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0240","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/ajmg.1320300139","article-title":"Folic acid treatment of fragile X males: a further study","volume":"30","author":"Fisch","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0245","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/ajmg.1320230121","article-title":"Folic acid treatment in males and females with fragile-(X)-syndrome","volume":"23","author":"Froster-Iskenius","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0250","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/mp.2011.175","article-title":"Cerebral folate receptor autoantibodies in autism spectrum disorder","volume":"18","author":"Frye","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0255","first-page":"523","article-title":"The \u2018golden age\u2019 of DNA methylation in neurodegenerative diseases","volume":"51","author":"Fuso","year":"2012","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0260","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1212\/01.wnl.0000309223.98616.e4","article-title":"Mitochondrial diseases associated with cerebral folate deficiency","volume":"70","author":"Garcia-Cazorla","year":"2008","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0265","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/1471-2202-11-53","article-title":"Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain","volume":"11","author":"Gibson","year":"2010","journal-title":"BMC Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0270","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1177\/0883073808327827","article-title":"A study of the treatment of Rett syndrome with folate and betaine","volume":"24","author":"Glaze","year":"2009","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0275","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/S0895-6111(02)00016-2","article-title":"Proton MR spectroscopy in Rett syndrome","volume":"26","author":"Gokcay","year":"2002","journal-title":"Comput. Med. Imaging Graph."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0280","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/nrn2421","article-title":"Brain foods: the effects of nutrients on brain function","volume":"9","author":"Gomez-Pinilla","year":"2008","journal-title":"Nat. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0285","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.bandc.2011.01.001","article-title":"Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments","volume":"75","author":"Goodrich-Hunsaker","year":"2011","journal-title":"Brain Cogn."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0290","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/ana.21243","article-title":"Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP)","volume":"63","author":"Gothelf","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0295","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/1099-1492(200005)13:3<129::AID-NBM619>3.0.CO;2-V","article-title":"Proton NMR chemical shifts and coupling constants for brain metabolites","volume":"13","author":"Govindaraju","year":"2000","journal-title":"NMR Biomed."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0300","doi-asserted-by":"crossref","first-page":"794","DOI":"10.1016\/j.jaac.2010.05.005","article-title":"Autism spectrum disorders and epigenetics","volume":"49","author":"Grafodatskaya","year":"2010","journal-title":"J. Am. Acad. Child Adolesc. Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0305","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s00726-007-0500-9","article-title":"S-adenosylmethionine and its products","volume":"34","author":"Grillo","year":"2008","journal-title":"Amino Acids"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0310","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1038\/ejhg.2010.223","article-title":"A nonsense mutation in FMR1 causing fragile X syndrome","volume":"19","author":"Gronskov","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0315","doi-asserted-by":"crossref","first-page":"RC195","DOI":"10.1523\/JNEUROSCI.22-01-j0005.2002","article-title":"Prenatal choline supplementation protects against postnatal neurotoxicity","volume":"22","author":"Guo-Ross","year":"2002","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0320","first-page":"718","article-title":"S-adenosylmethionine and S-adenosylhomocysteine in plasma and cerebrospinal fluid in Rett syndrome and the effect of folinic acid supplementation","volume":"26","author":"Hagebeuk","year":"2013","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0325","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1177\/0883073811417184","article-title":"Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study","volume":"27","author":"Hagebeuk","year":"2012","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0330","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1177\/0883073810390037","article-title":"Clinical and electroencephalographic effects of folinic acid treatment in Rett syndrome patients","volume":"26","author":"Hagebeuk","year":"2011","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0335","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1002\/ajmg.1320230119","article-title":"Oral folic acid versus placebo in the treatment of males with the fragile X syndrome","volume":"23","author":"Hagerman","year":"1986","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0340","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1866-1955-4-23","article-title":"Fragile X syndrome: a pilot proton magnetic resonance spectroscopy study in premutation carriers","volume":"4","author":"Hallahan","year":"2012","journal-title":"J. Neurodev. Disord."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0345","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1055\/s-2008-1071344","article-title":"Elevated CSF glutamate in Rett syndrome","volume":"23","author":"Hamberger","year":"1992","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0350","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1542\/peds.69.5.670","article-title":"Treatment of fragile-X","volume":"69","author":"Harpey","year":"1982","journal-title":"Pediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0355","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/ajmg.a.35796","article-title":"Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project","volume":"161","author":"Hollis","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0360","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1212\/WNL.54.3.715","article-title":"Quantitative 1H MR spectroscopic imaging in early Rett syndrome","volume":"54","author":"Horska","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0365","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1176\/ajp.156.12.1879","article-title":"High brain myo-inositol levels in the predementia phase of Alzheimer's disease in adults with Down's syndrome: a 1H MRS study","volume":"156","author":"Huang","year":"1999","journal-title":"Am. J Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0370","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/(SICI)1096-9861(19971020)387:2<167::AID-CNE1>3.0.CO;2-Z","article-title":"Regional differences in synaptogenesis in human cerebral cortex","volume":"387","author":"Huttenlocher","year":"1997","journal-title":"J. Comp. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0375","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0304-3940(89)90826-4","article-title":"Acetyl-l-carnitine enhances acetylcholine release in the striatum and hippocampus of awake freely moving rats","volume":"107","author":"Imperato","year":"1989","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0380","doi-asserted-by":"crossref","first-page":"1611","DOI":"10.1093\/ajcn\/80.6.1611","article-title":"Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism","volume":"80","author":"James","year":"2004","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0385","doi-asserted-by":"crossref","first-page":"425","DOI":"10.3945\/ajcn.2008.26615","article-title":"Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism","volume":"89","author":"James","year":"2009","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0390","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1002\/ajmg.b.30366","article-title":"Metabolic endophenotype and related genotypes are associated with oxidative stress in children with autism","volume":"141B","author":"James","year":"2006","journal-title":"Am. J. Med. Genet B, Neuropsychiatr. Genet.: Off. Publ. Int. Soc. Psychiatric Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0395","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1002\/ajmg.b.31094","article-title":"A functional polymorphism in the reduced folate carrier gene and DNA hypomethylation in mothers of children with autism","volume":"153B","author":"James","year":"2010","journal-title":"Am. J. Med. Genet. B, Neuropsychiatr. Genet.: Off. Publ. Int. Soc. Psychiatric Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0400","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1177\/08830738030180100501","article-title":"Neurobiology of Rett syndrome","volume":"18","author":"Johnston","year":"2003","journal-title":"J. Child Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0405","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/ajmg.c.30050","article-title":"Folate supplementation in three genetic models: implications for understanding folate-dependent developmental pathways","volume":"135C","author":"Kappen","year":"2005","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0410","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/cercor\/10.10.981","article-title":"Dendritic anomalies in disorders associated with mental retardation","volume":"10","author":"Kaufmann","year":"2000","journal-title":"Cereb. Cortex"},{"issue":"Suppl. 1","key":"10.1016\/j.neubiorev.2014.04.007_bib0415","first-page":"75L 77","article-title":"Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates","volume":"6","author":"Kaufmann","year":"1997","journal-title":"Eur. Child Adolesc Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0420","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1365-2788.2011.01404.x","article-title":"Social impairments in Rett syndrome: characteristics and relationship with clinical severity","volume":"56","author":"Kaufmann","year":"2012","journal-title":"J. Intellect. Disabil. Res.: JIDR"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0425","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1002\/ajmg.a.32697","article-title":"Cholinergic dysfunction in fragile X syndrome and potential intervention: a preliminary 1H MRS study","volume":"149A","author":"Kesler","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0430","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0887-8994(01)00385-X","article-title":"Magnetic resonance spectroscopy and analysis of MECP2 in Rett syndrome","volume":"26","author":"Khong","year":"2002","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0435","doi-asserted-by":"crossref","first-page":"16025","DOI":"10.1073\/pnas.0504285102","article-title":"Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans","volume":"102","author":"Kohlmeier","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0440","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1111\/j.1741-4520.2009.00232.x","article-title":"Folic acid in the prevention of neural tube defects: awareness among laywomen and healthcare providers in Japan","volume":"49","author":"Kondo","year":"2009","journal-title":"Congenit. Anom."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0445","doi-asserted-by":"crossref","first-page":"31777","DOI":"10.1074\/jbc.M705539200","article-title":"Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression","volume":"282","author":"Kovacheva","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0450","doi-asserted-by":"crossref","first-page":"5033","DOI":"10.1128\/MCB.01665-05","article-title":"Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome","volume":"26","author":"Kriaucionis","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0455","doi-asserted-by":"crossref","first-page":"13860","DOI":"10.1523\/JNEUROSCI.2159-12.2012","article-title":"Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment","volume":"32","author":"Kron","year":"2012","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0460","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0887-8994(96)00218-4","article-title":"High levels of cerebrospinal fluid glutamate in Rett syndrome","volume":"15","author":"Lappalainen","year":"1996","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0465","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1038\/nrg887","article-title":"Chromatin modification and epigenetic reprogramming in mammalian development","volume":"3","author":"Li","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0470","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1016\/j.ygeno.2007.08.005","article-title":"Gene expression profiling in the adult Down syndrome brain","volume":"90","author":"Lockstone","year":"2007","journal-title":"Genomics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0475","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/mrdd.1025","article-title":"Down syndrome and Alzheimer's disease: a link between development and aging","volume":"7","author":"Lott","year":"2001","journal-title":"Ment. Retard. Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0480","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1177\/1073858410386967","article-title":"Epigenetic mechanisms: critical contributors to long-term memory formation","volume":"17","author":"Lubin","year":"2011","journal-title":"Neuroscientist: Rev. J. Bringing Neurobiol. Neurol. Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0485","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1042\/cs0810551","article-title":"Betaine-homocysteine methyltransferase: organ distribution in man, pig and rat and subcellular distribution in the rat","volume":"81","author":"McKeever","year":"1991","journal-title":"Clin. Sci. (Lond.)"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0490","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1002\/dev.420210405","article-title":"Pre- and postnatal choline supplementation produces long-term facilitation of spatial memory","volume":"21","author":"Meck","year":"1988","journal-title":"Dev. Psychobiol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0495","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1096\/fj.06-6597com","article-title":"Prenatal choline availability modulates hippocampal and cerebral cortical gene expression","volume":"21","author":"Mellott","year":"2007","journal-title":"FASEB J."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0500","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1007\/s10803-011-1260-7","article-title":"Metabolic imbalance associated with methylation dysregulation and oxidative damage in children with autism","volume":"42","author":"Melnyk","year":"2011","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0505","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1037\/a0019590","article-title":"Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome","volume":"124","author":"Moon","year":"2010","journal-title":"Behav. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0510","doi-asserted-by":"crossref","first-page":"1934","DOI":"10.1016\/j.neuropsychologia.2004.05.002","article-title":"A neuropsychological investigation of male premutation carriers of fragile X syndrome","volume":"42","author":"Moore","year":"2004","journal-title":"Neuropsychologia"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0515","doi-asserted-by":"crossref","first-page":"2672","DOI":"10.1093\/brain\/awh256","article-title":"The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy","volume":"127","author":"Moore","year":"2004","journal-title":"Brain"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0520","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.physbeh.2012.03.003","article-title":"Choline dietary supplementation improves LiCl-induced context aversion retention in adult rats","volume":"106","author":"Moreno","year":"2012","journal-title":"Physiol. Behav."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0525","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1523\/JNEUROSCI.2623-05.2006","article-title":"Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome","volume":"26","author":"Moretti","year":"2006","journal-title":"J. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0530","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1007\/s10803-007-0492-z","article-title":"Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency","volume":"38","author":"Moretti","year":"2008","journal-title":"J. Autism Dev. Disord."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0535","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1212\/01.WNL.0000154641.08211.B7","article-title":"Cerebral folate deficiency with developmental delay, autism, and response to folinic acid","volume":"64","author":"Moretti","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0540","doi-asserted-by":"crossref","first-page":"801","DOI":"10.3945\/an.112.002535","article-title":"The role of B vitamins in preventing and treating cognitive impairment and decline","volume":"3","author":"Morris","year":"2012","journal-title":"Adv. Nutr. (Bethesda, MD)"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0545","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.nbd.2007.02.003","article-title":"Postnatal dietary choline supplementation alters behavior in a mouse model of Rett syndrome","volume":"26","author":"Nag","year":"2007","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0550","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.brainres.2008.08.042","article-title":"Effects of postnatal dietary choline supplementation on motor regional brain volume and growth factor expression in a mouse model of Rett syndrome","volume":"1237","author":"Nag","year":"2008","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0555","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1016\/j.neubiorev.2008.03.007","article-title":"Nutritional factors in a mouse model of Rett syndrome","volume":"33","author":"Nag","year":"2008","journal-title":"Neurosci. Biobehav. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0560","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.4161\/epi.1.4.3514","article-title":"Reduced MeCP2 expression is frequent in autism frontal cortex and correlates with aberrant MECP2 promoter methylation","volume":"1","author":"Nagarajan","year":"2006","journal-title":"Epigenetics"},{"issue":"Suppl. 1","key":"10.1016\/j.neubiorev.2014.04.007_bib0565","first-page":"14L 17","article-title":"Rett syndrome: natural history and underlying disease mechanisms","volume":"6","author":"Naidu","year":"1997","journal-title":"Eur. Child Adolesc. Psychiatry"},{"issue":"Suppl. 1","key":"10.1016\/j.neubiorev.2014.04.007_bib0570","first-page":"S62L 71","article-title":"Neuroimaging studies in Rett syndrome","volume":"23","author":"Naidu","year":"2001","journal-title":"Brain Dev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0575","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.brainres.2008.08.046","article-title":"Prenatal choline supplementation in rats increases the expression of IGF2 and its receptor IGF2R and enhances IGF2-induced acetylcholine release in hippocampus and frontal cortex","volume":"1237","author":"Napoli","year":"2008","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0580","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0585","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1212\/01.WNL.0000166032.58239.6C","article-title":"Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome","volume":"64","author":"Neul","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0590","doi-asserted-by":"crossref","first-page":"3036","DOI":"10.1096\/fj.10-154484","article-title":"Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain","volume":"24","author":"Nguyen","year":"2010","journal-title":"FASEB J."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0595","doi-asserted-by":"crossref","first-page":"500","DOI":"10.3945\/jn.112.166165","article-title":"Serum folate but not vitamin B-12 concentrations are positively associated with cognitive test scores in children aged 6\u201316 years","volume":"143","author":"Nguyen","year":"2013","journal-title":"J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0600","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1096\/fj.05-4707com","article-title":"Dietary choline deficiency alters global and gene-specific DNA methylation in the developing hippocampus of mouse fetal brains","volume":"20","author":"Niculescu","year":"2006","journal-title":"FASEB J."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0605","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1002\/mnfr.201200162","article-title":"Blood biomarkers of methylation in Down syndrome and metabolic simulations using a mathematical model","volume":"56","author":"Obeid","year":"2012","journal-title":"Mol. Nutr. Food Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0610","doi-asserted-by":"crossref","first-page":"380","DOI":"10.1055\/s-2005-873078","article-title":"Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid","volume":"36","author":"Ormazabal","year":"2005","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0615","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0304-3940(96)12889-5","article-title":"An evaluation of neuronal nicotinic acetylcholine receptor activation by quaternary nitrogen compounds indicates that choline is selective for the alpha 7 subtype","volume":"213","author":"Papke","year":"1996","journal-title":"Neurosci. Lett."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0620","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1177\/1073858409333075","article-title":"The state of synapses in fragile X syndrome","volume":"15","author":"Pfeiffer","year":"2009","journal-title":"Neuroscientist"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0625","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1086\/321262","article-title":"Homocysteine metabolism in children with Down syndrome: in vitro modulation","volume":"69","author":"Pogribna","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0630","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.3945\/ajcn.110.008938","article-title":"The relation of dietary choline to cognitive performance and white-matter hyperintensity in the Framingham Offspring Cohort","volume":"94","author":"Poly","year":"2011","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0635","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1055\/s-2008-1065354","article-title":"Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits","volume":"38","author":"Ramaekers","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0640","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1212\/01.WNL.0000078939.64774.1B","article-title":"Reduced folate transport to the CNS in female Rett patients","volume":"61","author":"Ramaekers","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0645","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/mp.2012.22","article-title":"Role of folate receptor autoantibodies in infantile autism","volume":"18","author":"Ramaekers","year":"2013","journal-title":"Mol. Psychiatry"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0650","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1055\/s-2007-991148","article-title":"Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome","volume":"38","author":"Ramaekers","year":"2007","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0655","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/ana.410340220","article-title":"Neuroanatomy of Rett syndrome: a volumetric imaging study","volume":"34","author":"Reiss","year":"1993","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0660","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1074\/jbc.M110.106922","article-title":"Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction","volume":"286","author":"Resseguie","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0665","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1037\/0735-7044.112.6.1387","article-title":"Postnatal choline supplementation in preweanling mice: sexually dimorphic behavioral and neurochemical effects","volume":"112","author":"Ricceri","year":"1998","journal-title":"Behav. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0670","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.bbr.2011.03.051","article-title":"Cholinergic hypofunction in MeCP 2-308 mice: beneficial neurobehavioural effects of neonatal choline supplementation","volume":"221","author":"Ricceri","year":"2011","journal-title":"Behav. Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0675","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1016\/S0140-6736(03)12987-X","article-title":"Down's syndrome","volume":"361","author":"Roizen","year":"2003","journal-title":"Lancet"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0680","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1179\/147683009X423454","article-title":"Understanding the role of nutrition in the brain and behavioral development of toddlers and preschool children: identifying and addressing methodological barriers","volume":"12","author":"Rosales","year":"2009","journal-title":"Nutr. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0685","first-page":"471","article-title":"Gene-environment interactions, folate metabolism and the embryonic nervous system","volume":"2","author":"Ross","year":"2010","journal-title":"Wiley Interdiscip. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0690","first-page":"CD008476","article-title":"Folic acid for fragile X syndrome","author":"Rueda","year":"2011","journal-title":"Cochrane Database Syst. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0695","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1002\/ddrr.1127","article-title":"Aging and intellectual disability: insights from mouse models of Down syndrome","volume":"18","author":"Ruparelia","year":"2013","journal-title":"Dev. Disabil. Res. Rev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0700","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/S0006-8993(02)02900-1","article-title":"Prenatal choline supplementation increases NGF levels in the hippocampus and frontal cortex of young and adult rats","volume":"947","author":"Sandstrom","year":"2002","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0705","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1016\/j.bbrc.2005.12.080","article-title":"Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism","volume":"340","author":"Saywell","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0710","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1093\/ilar.53.3-4.322","article-title":"Gene-environment interactions and epigenetic pathways in autism: the importance of one-carbon metabolism","volume":"53","author":"Schaevitz","year":"2012","journal-title":"ILAR J."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0715","doi-asserted-by":"crossref","first-page":"e51586","DOI":"10.1371\/journal.pone.0051586","article-title":"Acetyl-l-carnitine improves behavior and dendritic morphology in a mouse model of rett syndrome","volume":"7","author":"Schaevitz","year":"2012","journal-title":"PloS one"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0720","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1002\/dneu.21000","article-title":"Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders","volume":"72","author":"Schaevitz","year":"2012","journal-title":"Dev. Neurobiol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0725","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1001\/archneur.1990.00530090047012","article-title":"Lumbar cerebrospinal fluid choline in healthy aging and in Down's syndrome","volume":"47","author":"Schapiro","year":"1990","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0730","doi-asserted-by":"crossref","first-page":"80","DOI":"10.3945\/ajcn.110.004416","article-title":"Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (CHildhood Autism Risks from Genetics and Environment) case-control study","volume":"96","author":"Schmidt","year":"2012","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0735","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.brainres.2010.09.061","article-title":"Bridging the gap between MRI and postmortem research in autism","volume":"1380","author":"Schumann","year":"2011","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0740","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1016\/j.drudis.2012.07.008","article-title":"Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects","volume":"17","author":"Serrano","year":"2012","journal-title":"Drug Discov. Today"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0745","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S0896-6273(02)00768-7","article-title":"Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3","volume":"35","author":"Shahbazian","year":"2002","journal-title":"Neuron"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0750","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.chc.2010.02.001","article-title":"Psychiatric features in children with genetic syndromes: toward functional phenotypes","volume":"19","author":"Siegel","year":"2010","journal-title":"Child Adolesc. Psychiatr. Clin. N. Am."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0755","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1016\/S1734-1140(10)70369-8","article-title":"Amino acid metabolic processes in the temporal lobes assessed by proton magnetic resonance spectroscopy (1H MRS) in children with Down syndrome","volume":"62","author":"Smigielska-Kuzia","year":"2010","journal-title":"Pharmacol. Rep.: PR"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0760","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/S0022-3476(84)80118-3","article-title":"Use of megadoses of vitamins with minerals in Down syndrome","volume":"105","author":"Smith","year":"1984","journal-title":"J. Pediatr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0765","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.3945\/ajcn.111.030791","article-title":"Maternal folate status in early pregnancy and child emotional and behavioral problems: the Generation R Study","volume":"95","author":"Steenweg-de Graaff","year":"2012","journal-title":"Am. J. Clin. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0770","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.ajhg.2009.08.005","article-title":"Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism","volume":"85","author":"Steinfeld","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0775","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1017\/S0007114512005077","article-title":"Choline status and neurodevelopmental outcomes at 5 years of age in the Seychelles Child Development Nutrition Study","volume":"110","author":"Strain","year":"2013","journal-title":"Br. J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0780","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1002\/ajmg.1320440529","article-title":"Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin) for the treatment of fragile X syndrome","volume":"44","author":"Strom","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0785","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1001\/jama.2012.155925","article-title":"Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children","volume":"309","author":"Suren","year":"2013","journal-title":"JAMA"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0790","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1007\/BF00289445","article-title":"Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives","volume":"53","author":"Sutherland","year":"1979","journal-title":"Hum. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0795","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.braindev.2008.05.003","article-title":"Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment","volume":"31","author":"Temudo","year":"2009","journal-title":"Brain Dev."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0800","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1002\/bdra.20713","article-title":"Prenatal choline supplementation mitigates behavioral alterations associated with prenatal alcohol exposure in rats","volume":"88","author":"Thomas","year":"2010","journal-title":"Birth Defects Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0805","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1177\/0748233711420469","article-title":"Treatment with folic acid ameliorated the histopathological alterations caused by propylthiouracil-induced hypothyroid rat testes","volume":"28","author":"Tousson","year":"2012","journal-title":"Toxicol. Ind. Health"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0810","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.3945\/jn.108.093641","article-title":"Cognitive impairment in folate-deficient rats corresponds to depleted brain phosphatidylcholine and is prevented by dietary methionine without lowering plasma homocysteine","volume":"138","author":"Troen","year":"2008","journal-title":"J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0815","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1097\/DBP.0b013e3182690727","article-title":"Evaluation of cognitive and motor development in toddlers with congenital hypothyroidism diagnosed by neonatal screening","volume":"33","author":"van der Sluijs Veer","year":"2012","journal-title":"J. Dev. Behav. Pediatr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0820","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.3945\/jn.109.118075","article-title":"Higher maternal plasma folate but not vitamin B-12 concentrations during pregnancy are associated with better cognitive function scores in 9- to 10-year-old children in South India","volume":"140","author":"Veena","year":"2010","journal-title":"J. Nutr."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0825","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.nbd.2013.04.016","article-title":"Maternal choline supplementation improves spatial learning and adult hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome","volume":"58C","author":"Velazquez","year":"2013","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0830","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1517\/14728222.2010.528394","article-title":"Oxidative pathways as a drug target for the treatment of autism","volume":"14","author":"Villagonzalo","year":"2010","journal-title":"Expert Opin. Ther. Targets"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0835","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.1320170123","article-title":"Folate metabolism in cells from fragile X syndrome patients and carriers","volume":"17","author":"Wang","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0840","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1111\/j.1471-4159.2008.05768.x","article-title":"Neurochemical changes in a mouse model of Rett syndrome: changes over time and in response to perinatal choline nutritional supplementation","volume":"108","author":"Ward","year":"2009","journal-title":"J. Neurochem."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0845","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.bandc.2010.10.005","article-title":"Distortions and disconnections: disrupted brain connectivity in autism","volume":"75","author":"Wass","year":"2011","journal-title":"Brain Cogn."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0850","first-page":"214","article-title":"Effects of nutritional supplementation on IQ and certain other variables associated with Down syndrome","volume":"88","author":"Weathers","year":"1983","journal-title":"Am. J. Ment. Defic."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0855","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1055\/s-2007-973476","article-title":"Altered cholinergic function in the basal forebrain of girls with Rett syndrome","volume":"30","author":"Wenk","year":"1999","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0860","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.brainres.2008.08.074","article-title":"Spatial memory and hippocampal plasticity are differentially sensitive to the availability of choline in adulthood as a function of choline supply in utero","volume":"1237","author":"Wong-Goodrich","year":"2008","journal-title":"Brain Res."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0865","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.nbd.2008.01.008","article-title":"Prenatal choline supplementation attenuates neuropathological response to status epilepticus in the adult rat hippocampus","volume":"30","author":"Wong-Goodrich","year":"2008","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0870","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1016\/S0736-5748(00)00043-5","article-title":"In vitro 1H and 31P NMR spectroscopic evidence of multiple aberrant biochemical pathways in murine trisomy 16 brain development","volume":"18","author":"Yao","year":"2000","journal-title":"Int. J. Dev. Neurosci.: Off. J. Int. Soc. Dev. Neurosci."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0875","doi-asserted-by":"crossref","first-page":"4311","DOI":"10.1093\/hmg\/ddr357","article-title":"15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain","volume":"20","author":"Yasui","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0880","doi-asserted-by":"crossref","first-page":"193","DOI":"10.2147\/IJWH.S36610","article-title":"Nutrition in pregnancy: the argument for including a source of choline","volume":"5","author":"Zeisel","year":"2013","journal-title":"Int. J. Womens Health"},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0885","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/S0022-3565(25)33590-1","article-title":"Formation of methylamines from ingested choline and lecithin","volume":"225","author":"Zeisel","year":"1983","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0890","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1002\/ana.410250109","article-title":"Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome","volume":"25","author":"Zoghbi","year":"1989","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neubiorev.2014.04.007_bib0895","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1056\/NEJM198510103131504","article-title":"Reduction of biogenic amine levels in the Rett syndrome","volume":"313","author":"Zoghbi","year":"1985","journal-title":"N. Engl. J. Med."}],"container-title":["Neuroscience &amp; Biobehavioral Reviews"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763414000918?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0149763414000918?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T14:51:34Z","timestamp":1746197494000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0149763414000918"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,10]]},"references-count":180,"alternative-id":["S0149763414000918"],"URL":"https:\/\/doi.org\/10.1016\/j.neubiorev.2014.04.007","relation":{},"ISSN":["0149-7634"],"issn-type":[{"value":"0149-7634","type":"print"}],"subject":[],"published":{"date-parts":[[2014,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"One-carbon metabolism in neurodevelopmental disorders: Using broad-based nutraceutics to treat cognitive deficits in complex spectrum disorders","name":"articletitle","label":"Article Title"},{"value":"Neuroscience & Biobehavioral Reviews","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neubiorev.2014.04.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}