Turner G, Webb T, Wake S, Robinson H. Prevalence of fragile × syndrome. Am J Med Genet 1996; 64: 196–197.
Verkerk AJ et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905–914.
Hagerman RJ, Hagerman PJ. Fragile X Syndrome: Diagnosis, Treatmen, and Research, Vol xii Johns Hopkins University Press: Baltimore, 2002 540pp.
Kooy RF, Willemsen R, Oostra BA. Fragile X syndrome at the turn of the century. Mol Med Today 2000; 6: 193–198.
O'Donnell WT, Warren ST. A decade of molecular studies of fragile X syndrome. Annu Rev Neurosci 2002; 25: 315–338.
Greenough WT et al. Synaptic regulation of protein synthesis and the fragile X protein. Proc Natl Acad Sci (USA) 2001; 98: 7101–7106.
Bakker CE et al. Fmr1 knockout mice—a model to study fragile X mental retardation. Cell 1994; 78: 23–33.
Peier AM et al. (Over)correction of FMR1 deficiency with YAC transgenics: behavioral and physical features. Hum Mol Genet 2000; 9: 1145–1159.
Nielsen DM, Derber WJ, McClellan DA, Crnic LS. Alterations in the auditory startle response in Fmr1 targeted mutant mouse models of fragile X syndrome. Brain Res 2002; 927: 8–17.
Miller LJ et al. Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report. Am J Med Genet 1999; 83: 268–279.
Geyer MA, McIlwain KL, Paylor R. Mouse genetic models for prepulse inhibition: an early review. Mol Psychiatry 2002; 7: 1039–1053.
Sparrow SS, Balla D, Cicchetti DV. Vineland Adaptive Behavior Scales. American Guidance Service: Circle Pines, MN, 1984.
Achenbach TM. Manual of the Child Behavior Checklist. University of Vermont: Burlington, VT, 1991.
Berument SK, Rutter M, Lord C, Pickles A, Bailey A. Autism screening questionnaire: diagnostic validity. Br J Psychiatry 1999; 175: 444–451.
Kaufman AS, Kaufman NL. Kaufman Brief Intelligence Test. American Guidance Service: Circle Pines, MN, 1990.
Ornitz EM et al. Prepulse inhibition of startle and the neurobiology of primary nocturnal enuresis. Biol Psychiatry 1999; 45: 1455–1466.
Carvalho OM, Silva AJ, Balleine BW. Evidence of selective learning deficits on tests of Pavlovian and instrumental conditioning on alpha-CaMKII-T286 mutant mice. Int J Comp Psychol 2001; 14: 161–174.
Dickinson A, Squire S, Varga Z, Smith JW. Omission learning after instrumental pretraining. Quart J Exp Psychol Comp Physiol Psychol 1998; 51B: 271–286.
Hutchison KE, Swift R. Effect of D-amphetamine on prepulse inhibition of the startle reflex in humans. Psychopharmacology (Berl) 1999; 143: 394–400.
Swerdlow NR et al. Dopamine agonist effects on startle and sensorimotor gating in normal male subjects: time course studies. Psychopharmacology (Berl) 2002; 161: 189–201.
Abduljawad KA, Langley RW, Bradshaw CM, Szabadi E. Effects of bromocriptine and haloperidol on prepulse inhibition of the acoustic startle response in man. J Psychopharmacol 1998; 12: 239–245.
Abduljawad KA, Langley RW, Bradshaw CM, Szabadi E. Effects of clonidine and diazepam on prepulse inhibition of the acoustic startle response and the N1/P2 auditory evoked potential in man. J Psychopharmacol 2001; 15: 237–242.
Schachinger H, Muller BU, Strobel W, Langewitz W, Ritz R. Midazolam effects on prepulse inhibition of the acoustic blink reflex. Br J Clin Pharmacol 1999; 47: 421–426.
Mackeprang T, Kristiansen KT, Glenthoj BY. Effects of antipsychotics on prepulse inhibition of the startle response in drug-naive schizophrenic patients. Biol Psychiatry 2002; 52: 863–873.
Graham SJ, Langley RW, Bradshaw CM, Szabadi E. Effects of haloperidol and clozapine on prepulse inhibition of the acoustic startle response and the N1/P2 auditory evoked potential in man. J Psychopharmacol 2001; 15: 243–250.
Pouretemad HR, Thompson PJ, Fenwick PB. Sensorimotor gating in patients with non-epileptic seizures. Epilepsy Res 1998; 31: 1–12.
Geyer MA, Krebs-Thomson K, Braff DL, Swerdlow NR. Pharmacological studies of prepulse inhibition models of sensorimotor gating deficits in schizophrenia: a decade in review. Psychopharmacology 2001; 156: 117–154.
Braff DL, Geyer MA, Swerdlow NR. Human studies of prepulse inhibition of startle: normal subjects, patient groups, and pharmacological studies. Psychopharmacology (Berl) 2001; 156: 234–258.
Chen L, Toth M. Fragile X mice develop sensory hyperreactivity to auditory stimuli. Neuroscience 2001; 103: 1043–1050.
Van Dam D et al. Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice. Behav Brain Res 2000; 117: 127–136.
Dobkin C et al. Fmr1 knockout mouse has a distinctive strain-specific learning impairment. Neuroscience 2000; 100: 423–429.
Qin M, Kang J, Smith CB. Increased rates of cerebral glucose metabolism in a mouse model of fragile X mental retardation. Proc Natl Acad Sci (USA) 2002; 99: 15758–15763.
D'Hooge R et al. Mildly impaired water maze performance in male Fmr1 knockout mice. Neuroscience 1997; 76: 367–376.
Fisch GS, Hao HK, Bakker C, Oostra BA. Learning and memory in the FMR1 knockout mouse. Am J Med Genet 1999; 84: 277–282.
Squire LR, Knowlton B, Musen G. The structure and organization of memory. Annu Rev Psychol 1993; 44: 453–495.
Balleine BW, Dickinson A. Goal-directed instrumental action: contingency and incentive learning and their cortical substrates. Neuropharmacology 1998; 37: 407–419.
Watase K, Zoghbi HY. Modelling brain diseases in mice: the challenges of design and analysis. Nat Rev Genet 2003; 4: 296–307.
Jin P, Warren ST. New insights into fragile X syndrome: from molecules to neurobehaviors. Trends Biochem Sci 2003; 28: 152–158.
Feng Y et al. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1997; 1: 109–118.
Tamanini F et al. Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis. Hum Mol Genet 1997; 6: 1315–1322.
Bontekoe CJ et al. Knockout mouse model for Fxr2: a model for mental retardation. Hum Mol Genet 2002; 11: 487–498.