Belmonte MK, Bourgeron T: Fragile X syndrome and autism at the intersection of genetic and neural networks. Nat Neurosci. 2006, 9: 1221-1225. 10.1038/nn1765.
Article
CAS
PubMed
Google Scholar
Hagerman RJ, Rivera SM, Hagerman PJ: The fragile X family of disorders: A model for autism and targeted treatments. Curr Pediatr Rev. 2008, 4: 40-52. 10.2174/157339608783565770.
Article
CAS
Google Scholar
Kaufmann WE, Cortell R, Kau AS, Bukelis I, Tierney E, Gray RM, Cox C, Capone GT, Stanard P: Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet. 2004, 129A: 225-234. 10.1002/ajmg.a.30229.
Article
PubMed
Google Scholar
Rogers SJ, Wehner EA, Hagerman RJ: The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J Dev Behav Pediatr. 2001, 22: 409-417.
Article
CAS
PubMed
Google Scholar
Hatton DD, Sideris J, Skinner M, Mankowski J, Bailey DB, Roberts JE, Mirrett P: Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006, 140: 1804-1813.
Article
Google Scholar
Harris SW, Hessl D, Goodlin-Jones B, Ferranti J, Bacalman S, Barbato I, Tassone F, Hagerman PJ, Herman H, Hagerman RJ: Autism profiles of males with fragile X syndrome. Am J Ment Retard. 2008, 113: 427-438. 10.1352/2008.113:427-438.
Article
PubMed Central
PubMed
Google Scholar
Bassell GJ, Warren ST: Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function. Neuron. 2008, 60: 201-214. 10.1016/j.neuron.2008.10.004.
Article
PubMed Central
CAS
PubMed
Google Scholar
Pfeiffer BE, Huber KM: The state of synapses in fragile X syndrome. Neuroscientist. 2009, 15: 549-567. 10.1177/1073858409333075.
Article
PubMed Central
CAS
PubMed
Google Scholar
Qin M, Kang J, Burlin TV, Jiang C, Smith CB: Postadolescent changes in regional cerebral protein synthesis: an in vivo study in the FMR1 null mouse. J Neurosci. 2005, 25: 5087-5095. 10.1523/JNEUROSCI.0093-05.2005.
Article
CAS
PubMed
Google Scholar
Jin P, Warren ST: New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci. 2003, 28: 152-158. 10.1016/S0968-0004(03)00033-1.
Article
CAS
PubMed
Google Scholar
Moro F, Pisano T, Bernardina BD, Polli R, Murgia A, Zoccante L, Darra F, Battaglia A, Pramparo T, Zuffardi O, Guerrini R: Periventricular heterotopia in fragile X syndrome. Neurology. 2006, 67: 713-715. 10.1212/01.wnl.0000230223.51595.99.
Article
CAS
PubMed
Google Scholar
Dunn H, Renpenning H, Gerrard J, Miller J, Tabata T, Federoff S: Mental retardation as a sex-linked defect. Am J Ment Defic. 1963, 67: 827-848.
Google Scholar
Desai HB, Donat J, Shokeir MH, Munoz DG: Amyotrophic lateral sclerosis in a patient with fragile X syndrome. Neurology. 1990, 40: 378-380.
Article
CAS
PubMed
Google Scholar
Richter JD, Klann E: Making synaptic plasticity and memory last: mechanisms of translational regulation. Genes Dev. 2009, 23: 1-11. 10.1101/gad.1735809.
Article
CAS
PubMed
Google Scholar
Lintas C, Persico AM: Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist. J Med Genet. 2009, 46: 1-8. 10.1136/jmg.2008.060871.
Article
PubMed Central
CAS
PubMed
Google Scholar
Darnell JC, Mostovetsky O, Darnell RB: FMRP RNA targets: identification and validation. Genes Brain Behav. 2005, 4: 341-349. 10.1111/j.1601-183X.2005.00144.x.
Article
CAS
PubMed
Google Scholar
Rosales-Reynoso MA, Ochoa-Hernandez AB, Barros-Nunez P: [Diseases caused by triplet expansion]. Rev Neurol. 2009, 49: 79-87.
CAS
PubMed
Google Scholar
Hagerman R, Hoem G, Hagerman P: Fragile X and autism: Intertwined at the molecular level leading to targeted treatments. Mol Autism. 2010, 1: 12-10.1186/2040-2392-1-12.
Article
PubMed Central
PubMed
Google Scholar
Darnell JC, van Dreische S, Zhang C, Mele A, Zang JB, Fak JJ, C S-W, Richter J, Darnell RB: HITS-CLIP Identifies Specific Neuronal mRNA Targets of Translational Repression by the Fragile X Mental Retardation Protein, FMRP [abstract]. Keystone Symposia; Snowbird, UT. 2010, 56-Abstract # 016
Google Scholar
Luo Y, Shan G, Guo W, Smrt RD, Johnson EB, Li X, Pfeiffer RL, Szulwach KE, Duan R, Barkho BZ, Li W, Liu C, Jin P, Zhao X: Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. PLoS Genet. 2010, 6: e1000898-10.1371/journal.pgen.1000898.
Article
PubMed Central
PubMed
Google Scholar
Reiss AL, Lee J, Freund L: Neuroanatomy of fragile X syndrome: the temporal lobe. Neurology. 1994, 44: 1317-1324.
Article
CAS
PubMed
Google Scholar
Kates WR, Abrams MT, Kaufmann WE, Breiter SN, Reiss AL: Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome. Psychiatry Res: Neuroimaging. 1997, 75: 31-48. 10.1016/S0925-4927(97)00019-X.
Article
CAS
PubMed
Google Scholar
Gothelf D, Furfaro JA, Hoeft F, Eckert MA, Hall SS, O'Hara R, Erba HW, Ringel J, Hayashi KM, Patnaik S, Golianu B, Kraemer HC, Thompson PM, Piven J, Reiss AL: Neuroanatomy of fragile X syndrome is associated with aberrant behavior and the fragile X mental retardation protein (FMRP). Ann Neurol. 2008, 63: 40-51. 10.1002/ana.21243.
Article
PubMed Central
PubMed
Google Scholar
Greco CM, Hagerman RJ, Tassone F, Chudley A, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ: Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain. 2002, 125: 1760-1771. 10.1093/brain/awf184.
Article
CAS
PubMed
Google Scholar
Whitney ER, Kemper TL, Rosene DL, Bauman ML, Blatt GJ: Calbindin-D28k is a more reliable marker of human Purkinje cells than standard Nissl stains: a stereological experiment. J Neurosci Methods. 2008, 168: 42-47. 10.1016/j.jneumeth.2007.09.009.
Article
CAS
PubMed
Google Scholar
Tassone F, Pan R, Amiri K, Taylor AK, Hagerman PJ: A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations. J Mol Diagn. 2008, 10: 43-49. 10.2353/jmoldx.2008.070073.
Article
PubMed Central
CAS
PubMed
Google Scholar
Hessl D, Rivera SM, Reiss AL: The neuroanatomy and neuroendocrinology of fragile X syndrome. Ment Retard Dev Disabil Res Rev. 2004, 10: 17-24. 10.1002/mrdd.20004.
Article
PubMed
Google Scholar
Jakala P, Hanninen T, Ryynanen M, Laakso M, Partanen K, Mannermaa A, Soininen H: Fragile-X: neuropsychological test performance, CGG triplet repeat lengths, and hippocampal volumes. J Clin Invest. 1997, 100: 331-338. 10.1172/JCI119538.
Article
PubMed Central
CAS
PubMed
Google Scholar
Sloviter RS, Kudrimoti HS, Laxer KD, Barbaro NM, Chan S, Hirsch LJ, Goodman RR, Pedley TA: "Tectonic" hippocampal malformations in patients with temporal lobe epilepsy. Epilepsy Res. 2004, 59: 123-153. 10.1016/j.eplepsyres.2004.04.001.
Article
PubMed
Google Scholar
Reiss AL, Patel S, Kumar AJ, Freund L: Preliminary communication: neuroanatomical variations of the posterior fossa in men with the fragile X (Martin-Bell) syndrome. Am J Med Genet. 1988, 31: 407-414. 10.1002/ajmg.1320310220.
Article
CAS
PubMed
Google Scholar
Holroyd S, Reiss AL, Bryan RN: Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry. 1991, 29: 287-294. 10.1016/0006-3223(91)91291-X.
Article
CAS
PubMed
Google Scholar
Mostofsky SH, Reiss AL, Lockhart P, Denckla MB: Evaluation of cerebellar size in attention-deficit hyperactivity disorder. J Child Neurol. 1998, 13: 434-439. 10.1177/088307389801300904.
Article
CAS
PubMed
Google Scholar
Nopoulos PC, Ceilley JW, Gailis EA, Andreasen NC: An MRI study of cerebellar vermis morphology in patients with schizophrenia: evidence in support of the cognitive dysmetria concept. Biol Psychiatry. 1999, 46: 703-711. 10.1016/S0006-3223(99)00093-1.
Article
CAS
PubMed
Google Scholar
Eliez S, Schmitt JE, White CD, Wellis VG, Reiss AL: A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiatry. 2001, 49: 540-546. 10.1016/S0006-3223(00)01005-2.
Article
CAS
PubMed
Google Scholar
Campbell LE, Daly E, Toal F, Stevens A, Azuma R, Catani M, Ng V, van Amelsvoort T, Chitnis X, Cutter W, Murphy DG, Murphy KC: Brain and behaviour in children with 22q11.2 deletion syndrome: a volumetric and voxel-based morphometry MRI study. Brain. 2006, 129: 1218-1228. 10.1093/brain/awl066.
Article
PubMed
Google Scholar
Amaral DG, Schumann CM, Nordahl CW: Neuroanatomy of autism. Trends Neurosci. 2008, 31: 137-145. 10.1016/j.tins.2007.12.005.
Article
CAS
PubMed
Google Scholar
Kemper TL, Bauman M: Neuropathology of infantile autism. J Neuropathol Exp Neurol. 1998, 57: 645-652. 10.1097/00005072-199807000-00001.
Article
CAS
PubMed
Google Scholar
Webb SJ, Sparks BF, Friedman SD, Shaw DW, Giedd J, Dawson G, Dager SR: Cerebellar vermal volumes and behavioral correlates in children with autism spectrum disorder. Psychiatry Res. 2009, 172: 61-67. 10.1016/j.pscychresns.2008.06.001.
Article
PubMed Central
PubMed
Google Scholar
Ichimiya T, Okubo Y, Suhara T, Sudo Y: Reduced volume of the cerebellar vermis in neuroleptic-naive schizophrenia. Biol Psychiatry. 2001, 49: 20-27. 10.1016/S0006-3223(00)01081-7.
Article
CAS
PubMed
Google Scholar
Daskalakis ZJ, Christensen BK, Fitzgerald PB, Fountain SI, Chen R: Reduced cerebellar inhibition in schizophrenia: a preliminary study. Am J Psychiatry. 2005, 162: 1203-1205. 10.1176/appi.ajp.162.6.1203.
Article
PubMed
Google Scholar
Mazzocco MM, Kates WR, Baumgardner TL, Freund LS, Reiss AL: Autistic behaviors among girls with fragile X syndrome. J Autism Dev Disord. 1997, 27: 415-435. 10.1023/A:1025857422026.
Article
CAS
PubMed
Google Scholar
Arnold SE, Hyman BT, Van Hoesen GW, Damasio AR: Some cytoarchitectural abnormalities of the entorhinal cortex in schizophrenia. Arch Gen Psychiatry. 1991, 48: 625-632.
Article
CAS
PubMed
Google Scholar
Arnold SE, Ruscheinsky DD, Han LY: Further evidence of abnormal cytoarchitecture of the entorhinal cortex in schizophrenia using spatial point pattern analyses. Biol Psychiatry. 1997, 42: 639-647. 10.1016/S0006-3223(97)00142-X.
Article
CAS
PubMed
Google Scholar
Jakob H, Beckmann H: Prenatal developmental disturbances in the limbic allocortex in schizophrenics. J Neural Transm. 1986, 65: 303-326. 10.1007/BF01249090.
Article
CAS
PubMed
Google Scholar
Wegiel J, Kuchna I, Nowicki K, Imaki H, Wegiel J, Marchi E, Ma SY, Chauhan A, Chauhan V, Bobrowicz TW, de Leon M, Louis LA, Cohen IL, London E, Brown WT, Wisniewski T: The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changes. Acta Neuropathol. 2010, 119: 755-770. 10.1007/s00401-010-0655-4.
Article
PubMed Central
PubMed
Google Scholar
Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P: A clinicopathological study of autism. Brain. 1998, 121 (Pt 5): 889-905. 10.1093/brain/121.5.889.
Article
PubMed
Google Scholar
Bernstein HG, Krell D, Baumann B, Danos P, Falkai P, Diekmann S, Henning H, Bogerts B: Morphometric studies of the entorhinal cortex in neuropsychiatric patients and controls: clusters of heterotopically displaced lamina II neurons are not indicative of schizophrenia. Schizophr Res. 1998, 33: 125-132. 10.1016/S0920-9964(98)00071-1.
Article
CAS
PubMed
Google Scholar
Akil M, Lewis DA: Cytoarchitecture of the entorhinal cortex in schizophrenia. Am J Psychiatry. 1997, 154: 1010-1012.
Article
CAS
PubMed
Google Scholar
Krimer LS, Herman MM, Saunders RC, Boyd JC, Hyde TM, Carter JM, Kleinman JE, Weinberger DR: A qualitative and quantitative analysis of the entorhinal cortex in schizophrenia. Cereb Cortex. 1997, 7: 732-739. 10.1093/cercor/7.8.732.
Article
CAS
PubMed
Google Scholar
Fatemi SH, Kneeland RE, Liesch SB, Folsom TD: Fragile X mental retardation protein levels are decreased in major psychiatric disorders. Schizophr Res. 2010, 124: 246-7. 10.1016/j.schres.2010.07.017.
Article
PubMed Central
PubMed
Google Scholar
Fatemi SH, Folsom TD: The role of fragile X mental retardation protein in major mental disorders. Neuropharmacology. 2010
Google Scholar
Oguro-Ando A, Bomar J, Abrahams B, Herman E, Werling D, Roesensweig C, Nishimura Y, Dong H, DH G: Functional analysis of CYFIP as an Autism Candidate Gene using a BAC transgenic model [abstract]. Keystone Symposia: Towards Defining the Pathophysiology of Autistic behavior; April 11-15; Snowbird, Utah, USA. 2010, 116-Abstract # 201
Google Scholar
Napoli I, Mercaldo V, Boyl PP, Eleuteri B, Zalfa F, De Rubeis S, Di Marino D, Mohr E, Massimi M, Falconi M, Witke W, Costa-Mattioli M, Sonenberg N, Achsel T, Bagni C: The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell. 2008, 134: 1042-1054. 10.1016/j.cell.2008.07.031.
Article
CAS
PubMed
Google Scholar
Nowicki ST, Tassone F, Ono MY, Ferranti J, Croquette MF, Goodlin-Jones B, Hagerman RJ: The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr. 2007, 28: 133-138. 10.1097/01.DBP.0000267563.18952.c9.
Article
PubMed
Google Scholar
D'Hulst C, Heulens I, Brouwer JR, Willemsen R, De Geest N, Reeve SP, De Deyn PP, Hassan BA, Kooy RF: Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS). Brain Research. 2009, 1253: 176-183.
Article
PubMed
Google Scholar
Selby L, Zhang C, Sun QQ: Major defects in neocortical GABAergic inhibitory circuits in mice lacking the fragile X mental retardation protein. Neurosci Lett. 2007, 412: 227-232. 10.1016/j.neulet.2006.11.062.
Article
PubMed Central
CAS
PubMed
Google Scholar
Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ: Aging in fragile X syndrome. J Neurodev Disord. 2010, 2: 70-76. 10.1007/s11689-010-9047-2.
Article
PubMed Central
PubMed
Google Scholar
Eadie B, Christie B: Abnormal neurogenesis in the hippocampus of a mouse model of fragile X syndromes. Clin Invest Med. 2007, 30 (Suppl): S80-
Google Scholar
Rudelli RD, Jenkins EC, Wisniewski K, Moretz R, Byrne J, Brown WT: Testicular size in fetal fragile X syndrome. Lancet. 1983, 1: 1221-1222. 10.1016/S0140-6736(83)92498-4.
Article
CAS
PubMed
Google Scholar
Rudelli RD, Brown WT, Wisniewski K, Jenkins EC, Laure-Kamionowska M, Connell F, Wisniewski HM: Adult fragile X syndrome. Clinico-neuropathologic findings. Acta Neuropathologica. 1985, 67: 289-295. 10.1007/BF00687814.
Article
CAS
PubMed
Google Scholar
Hinton VJ, Brown WT, Wisniewski K, Rudelli RD: Analysis of neocortex in three males with the fragile X syndrome. Am J Med Genet. 1991, 41: 289-294. 10.1002/ajmg.1320410306.
Article
CAS
PubMed
Google Scholar
Wisniewski KE, Segan SM, Miezejeski CM, Sersen EA, Rudelli RD: The Fra(X) syndrome: neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet. 1991, 38: 476-480. 10.1002/ajmg.1320380267.
Article
CAS
PubMed
Google Scholar
Sabaratnam M: Pathological and neuropathological findings in two males with fragile X syndrome. J Intellect Disabil Res. 2000, 44: 81-85. 10.1046/j.1365-2788.2000.00261.x.
Article
PubMed
Google Scholar
Irwin SA, Patel B, Idupulapati M, Harris JB, Crisostomo RA, Larsen BP, Kooy F, Willems PJ, Cras P, Kozlowski PB, Swain RA, Weiler IJ, Greenough WT: Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet. 2001, 98: 161-167. 10.1002/1096-8628(20010115)98:2<161::AID-AJMG1025>3.0.CO;2-B.
Article
CAS
PubMed
Google Scholar