Published in Expert Opin Investig Drugs on November 20, 2013
Dysregulation and restoration of translational homeostasis in fragile X syndrome. Nat Rev Neurosci (2015) 0.91
Location-dependent signaling of the group 1 metabotropic glutamate receptor mGlu5. Mol Pharmacol (2014) 0.85
Learning and behavioral deficits associated with the absence of the fragile X mental retardation protein: what a fly and mouse model can teach us. Learn Mem (2014) 0.85
Fragile X syndrome as a rare disease in China - Therapeutic challenges and opportunities. Intractable Rare Dis Res (2015) 0.83
A Randomized, Double-Blind, Placebo-Controlled Trial of Low-Dose Sertraline in Young Children With Fragile X Syndrome. J Dev Behav Pediatr (2016) 0.79
Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study. BMC Psychiatry (2016) 0.75
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet (2003) 5.51
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA (2004) 4.88
Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status. Arch Neurol (2003) 4.37
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Advances in the treatment of fragile X syndrome. Pediatrics (2009) 3.10
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J Dev Behav Pediatr (2006) 2.73
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet (2005) 2.35
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period. Arch Neurol (2002) 1.92
The mGluR5 antagonist MPEP decreased nicotine self-administration in rats and mice. Psychopharmacology (Berl) (2003) 1.83
Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord (2007) 1.77
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol (2010) 1.59
A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A (2008) 1.59
Molecular and cognitive predictors of the continuum of autistic behaviours in fragile X. Neurosci Biobehav Rev (2006) 1.58
Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J (2010) 1.58
Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. Am J Ment Retard (2004) 1.58
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging (2008) 1.57
The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment. Neurocase (2005) 1.49
Human PET studies of metabotropic glutamate receptor subtype 5 with 11C-ABP688. J Nucl Med (2007) 1.48
Nicotine potentiation of brain stimulation reward reversed by DH beta E and SCH 23390, but not by eticlopride, LY 314582 or MPEP in rats. Psychopharmacology (Berl) (2001) 1.47
Metabotropic glutamate 5 receptor blockade may attenuate cocaine self-administration by decreasing brain reward function in rats. Psychopharmacology (Berl) (2004) 1.47
Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol (2006) 1.47
Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc (2005) 1.45
Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics. J Clin Invest (2012) 1.42
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization. J Neurodev Disord (2010) 1.34
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome. Genet Med (2012) 1.33
Radiosynthesis and preclinical evaluation of 11C-ABP688 as a probe for imaging the metabotropic glutamate receptor subtype 5. J Nucl Med (2006) 1.32
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. J Clin Endocrinol Metab (2009) 1.32
Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (2010) 1.31
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Mov Disord (2007) 1.28
Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ (2012) 1.27
Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord (2012) 1.23
Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet (2011) 1.23
Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol (2003) 1.22
Group II metabotropic and alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA)/kainate glutamate receptors regulate the deficit in brain reward function associated with nicotine withdrawal in rats. J Pharmacol Exp Ther (2003) 1.20
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A (2013) 1.19
Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet B Neuropsychiatr Genet (2009) 1.16
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord (2008) 1.15
Evaluation of the metabotropic glutamate receptor subtype 5 using PET and 11C-ABP688: assessment of methods. J Nucl Med (2007) 1.14
AFQ056 treatment of levodopa-induced dyskinesias: results of 2 randomized controlled trials. Mov Disord (2011) 1.10
Fragile x syndrome. Curr Genomics (2011) 1.09
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome. Neurobiol Dis (2011) 1.09
Dementia with mood symptoms in a fragile X premutation carrier with the fragile X-associated tremor/ataxia syndrome: clinical intervention with donepezil and venlafaxine. J Neuropsychiatry Clin Neurosci (2006) 1.08
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns (2007) 1.07
The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl) (2013) 1.05
Transient receptor potential channel polymorphisms are associated with the somatosensory function in neuropathic pain patients. PLoS One (2011) 1.02
Fibromyalgia in fragile X mental retardation 1 gene premutation carriers. Rheumatology (Oxford) (2011) 1.02
MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics (2013) 1.01
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cogn Behav Neurol (2006) 1.01
Spiro[2.2]pentane as a dissymmetric scaffold for conformationally constrained analogues of glutamic acid: focus on racemic 1-aminospiro[2.2]pentyl-1,4-dicarboxylic acids. J Org Chem (2002) 1.01
Metabotropic glutamate receptor mGluR5 is not involved in the early hemodynamic response. J Cereb Blood Flow Metab (2011) 1.01
Early acceleration of head circumference in children with fragile x syndrome and autism. J Dev Behav Pediatr (2007) 1.00
Translating molecular advances in fragile X syndrome into therapy: a review. J Clin Psychiatry (2014) 1.00
Chronic but not acute treatment with a metabotropic glutamate 5 receptor antagonist reverses the akinetic deficits in a rat model of parkinsonism. J Neurosci (2002) 0.99
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant. Psychopharmacology (Berl) (2012) 0.98
Early onset of neurological symptoms in fragile X premutation carriers exposed to neurotoxins. Neurotoxicology (2010) 0.97
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. Eur J Hum Genet (2008) 0.97
Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord (2006) 0.97
The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet (2013) 0.96
Paediatric adverse drug reactions reported in Sweden from 1987 to 2001. Pharmacoepidemiol Drug Saf (2005) 0.96
Aging in fragile X syndrome. J Neurodev Disord (2010) 0.95
Metabotropic glutamate receptors: their therapeutic potential in anxiety. Curr Top Behav Neurosci (2010) 0.95
Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. Arch Neurol (2004) 0.95
Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development. Psychopharmacology (Berl) (2014) 0.95
Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet (2008) 0.95
FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95
Investigating word learning in fragile X syndrome: a fast-mapping study. J Autism Dev Disord (2013) 0.95
Non-nicotinic neuropharmacological strategies for nicotine dependence: beyond bupropion. Drug Discov Today (2003) 0.94
FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles. J Mol Diagn (2011) 0.94
Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study. Circ Cardiovasc Genet (2010) 0.93
Autonomic regulation in fragile X syndrome. Dev Psychobiol (2011) 0.93
Treatment of neurodevelopmental disorders in adulthood. J Neurosci (2012) 0.93
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One (2010) 0.93
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice. Behav Brain Res (2012) 0.93
Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr (2012) 0.92
Effect of the metabotropic glutamate receptor type 5 antagonists MPEP and MTEP in parkinsonian monkeys. Neuropharmacology (2010) 0.92
Screen for expanded FMR1 alleles in patients with essential tremor. Mov Disord (2004) 0.92
mGlu5 receptor antagonists: a novel class of anxiolytics? Drug News Perspect (2004) 0.91
Radiation dosimetry and biodistribution of 11C-ABP688 measured in healthy volunteers. Eur J Nucl Med Mol Imaging (2007) 0.91
Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord (2011) 0.91
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Brain (2010) 0.90
Quantitative evaluation of 11C-ABP688 as PET ligand for the measurement of the metabotropic glutamate receptor subtype 5 using autoradiographic studies and a beta-scintillator. Neuroimage (2007) 0.90
Relationship of drug metabolizing enzyme genotype to plasma levels as well as myelotoxicity of cyclophosphamide in breast cancer patients. Eur J Clin Pharmacol (2011) 0.90
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles. J Med Genet (2014) 0.90