Published in Neurology on August 28, 2007
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol (2013) 2.41
A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry (2009) 1.98
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
Advances in understanding the molecular basis of FXTAS. Hum Mol Genet (2010) 1.83
Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers. J Clin Psychiatry (2010) 1.79
Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging (2008) 1.57
Emerging topics in FXTAS. J Neurodev Disord (2014) 1.47
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44
Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms. Acta Neuropathol (2013) 1.41
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol (2011) 1.39
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32
Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics (2010) 1.31
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. J Clin Exp Neuropsychol (2008) 1.29
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Fragile X-associated disorders: a clinical overview. J Neurol (2011) 1.13
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11
A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome. Brain (2011) 1.09
Temporal ordering deficits in female CGG KI mice heterozygous for the fragile X premutation. Behav Brain Res (2010) 1.07
Immune-mediated disorders among women carriers of fragile X premutation alleles. Am J Med Genet A (2012) 1.04
An fMRI study of the prefrontal activity during the performance of a working memory task in premutation carriers of the fragile X mental retardation 1 gene with and without fragile X-associated tremor/ataxia syndrome (FXTAS). J Psychiatr Res (2010) 1.04
Diffusion tensor imaging in male premutation carriers of the fragile X mental retardation gene. Mov Disord (2011) 1.03
Enhanced manual and oral motor reaction time in young adult female fragile X premutation carriers. J Int Neuropsychol Soc (2011) 1.00
Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A (2012) 1.00
Fragile X-associated tremor/ataxia syndrome. Ann N Y Acad Sci (2015) 0.98
Fragile X-associated tremor/ataxia syndrome (FXTAS) in grey zone carriers. Clin Genet (2012) 0.97
Broad clinical involvement in a family affected by the fragile X premutation. J Dev Behav Pediatr (2009) 0.94
Associated features in females with an FMR1 premutation. J Neurodev Disord (2014) 0.94
TARGETED TREATMENTS IN AUTISM AND FRAGILE X SYNDROME. Res Autism Spectr Disord (2012) 0.94
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med (2009) 0.93
Female CGG knock-in mice modeling the fragile X premutation are impaired on a skilled forelimb reaching task. Neurobiol Learn Mem (2011) 0.93
Newborn screening and cascade testing for FMR1 mutations. Am J Med Genet A (2012) 0.91
Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome. Brain (2010) 0.90
Past, present and future therapeutics for cerebellar ataxias. Curr Neuropharmacol (2010) 0.88
PSYCHIATRIC DISORDERS ASSOCIATED WITH FXTAS. Curr Psychiatry Rev (2015) 0.87
Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment. Tremor Other Hyperkinet Mov (N Y) (2012) 0.86
The cognitive neuropsychological phenotype of carriers of the FMR1 premutation. J Neurodev Disord (2014) 0.85
Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome by utilizing Q-sort methodology. Aging Ment Health (2010) 0.85
Language dysfluencies in females with the FMR1 premutation. Brain Cogn (2013) 0.85
Prepulse inhibition in patients with fragile X-associated tremor ataxia syndrome. Neurobiol Aging (2010) 0.84
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Young adult male carriers of the fragile X premutation exhibit genetically modulated impairments in visuospatial tasks controlled for psychomotor speed. J Neurodev Disord (2012) 0.83
A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS. Curr Gerontol Geriatr Res (2011) 0.82
Conversion disorder in women with the FMR1 premutation. Am J Med Genet A (2009) 0.81
Phenotypes of hypofrontality in older female fragile X premutation carriers. Ann Neurol (2013) 0.81
Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res (2012) 0.80
Fragile X syndrome: an aging perspective. Dev Disabil Res Rev (2013) 0.79
Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder. Curr Pharm Des (2015) 0.79
Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses. Biologics (2008) 0.78
Towards an Understanding of Neuropsychiatric Manifestations in Fragile X Premutation Carriers. Future Neurol (2014) 0.78
Fragile X-associated tremor/ataxia syndrome - features, mechanisms and management. Nat Rev Neurol (2016) 0.77
Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology (2014) 0.77
Investigation of amygdala volume in men with the fragile X premutation. Brain Imaging Behav (2011) 0.77
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. Front Genet (2014) 0.76
Immune mediated disorders in women with a fragile X expansion and FXTAS. Am J Med Genet A (2014) 0.76
Abnormal semantic processing in females with fragile X-associated tremor/ataxia syndrome. Genes Brain Behav (2013) 0.76
Axonal neuropathy in female carriers of the fragile X premutation with fragile x-associated tremor ataxia syndrome. Muscle Nerve (2015) 0.75
Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety. J Neurodev Disord (2017) 0.75
Associated Clinical Disorders Diagnosed by Medical Specialists in 188 FMR1 Premutation Carriers Found in the Last 25 Years in the Spanish Basque Country: A Retrospective Study. Genes (Basel) (2016) 0.75
Fragile X premutation in women: recognizing the health challenges beyond primary ovarian insufficiency. J Assist Reprod Genet (2016) 0.75
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. Intractable Rare Dis Res (2014) 0.75
Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome. Case Rep Genet (2011) 0.75
Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families. Pediatrics (2017) 0.75
The sequence of the human genome. Science (2001) 101.55
Serial analysis of gene expression. Science (1995) 60.15
The minimal gene complement of Mycoplasma genitalium. Science (1995) 32.41
Mild cognitive impairment--beyond controversies, towards a consensus: report of the International Working Group on Mild Cognitive Impairment. J Intern Med (2004) 16.58
Dramatic rise in plasma viremia after CD8(+) T cell depletion in simian immunodeficiency virus-infected macaques. J Exp Med (1999) 14.30
Characterization of the yeast transcriptome. Cell (1997) 11.33
The role of a mutant CCR5 allele in HIV-1 transmission and disease progression. Nat Med (1996) 10.62
A public database for gene expression in human cancers. Cancer Res (1999) 8.81
Virologic and immunologic characterization of long-term survivors of human immunodeficiency virus type 1 infection. N Engl J Med (1995) 8.23
PUMA induces the rapid apoptosis of colorectal cancer cells. Mol Cell (2001) 7.95
14-3-3 sigma is a p53-regulated inhibitor of G2/M progression. Mol Cell (1997) 7.20
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet (2000) 6.73
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology (2001) 6.55
Analysis of human transcriptomes. Nat Genet (1999) 6.14
The evolution of H5N1 influenza viruses in ducks in southern China. Proc Natl Acad Sci U S A (2004) 5.87
Evolution and phylogeny of Wolbachia: reproductive parasites of arthropods. Proc Biol Sci (1995) 5.70
The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation. Nat Cell Biol (2001) 5.36
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
Ligand binding to integrins. J Biol Chem (2000) 4.94
American College of Rheumatology classification criteria for Sjögren's syndrome: a data-driven, expert consensus approach in the Sjögren's International Collaborative Clinical Alliance cohort. Arthritis Care Res (Hoboken) (2012) 4.82
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature (2000) 4.68
Anisotropic diffusion in human white matter: demonstration with MR techniques in vivo. Radiology (1990) 4.42
Microarrays: handling the deluge of data and extracting reliable information. Trends Biotechnol (2001) 4.38
VEGF enhances angiogenesis and promotes blood-brain barrier leakage in the ischemic brain. J Clin Invest (2000) 4.36
Rapid production and clearance of HIV-1 and hepatitis C virus assessed by large volume plasma apheresis. Lancet (1999) 4.36
Design and performance testing of quantitative real time PCR assays for influenza A and B viral load measurement. J Clin Virol (2004) 4.28
Delay or probability discounting in a model of impulsive behavior: effect of alcohol. J Exp Anal Behav (1999) 4.23
Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet (2000) 4.17
The decay of the latent reservoir of replication-competent HIV-1 is inversely correlated with the extent of residual viral replication during prolonged anti-retroviral therapy. Nat Med (2000) 4.08
Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A (1994) 4.07
Crystal structure of the cytochrome bc1 complex from bovine heart mitochondria. Science (1997) 4.07
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain (2002) 4.05
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain (2005) 3.99
A quantum dot single-photon turnstile device. Science (2000) 3.89
DNA supercoiling promotes formation of a bent repression loop in lac DNA. J Mol Biol (1987) 3.81
The genome reconstruction manager: a software environment for supporting high-throughput DNA sequencing. Genomics (1994) 3.69
Influenza neuraminidase inhibitors possessing a novel hydrophobic interaction in the enzyme active site: design, synthesis, and structural analysis of carbocyclic sialic acid analogues with potent anti-influenza activity. J Am Chem Soc (1997) 3.69
The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution. Neuron (2001) 3.68
Transgenic mice lacking class I major histocompatibility complex-restricted T cells have delayed viral clearance and increased mortality after influenza virus challenge. J Exp Med (1992) 3.63
Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet (1999) 3.60
TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J (1998) 3.49
HIV-1 drug resistance in newly infected individuals. JAMA (1999) 3.49
An estrogen receptor-negative breast cancer subset characterized by a hormonally regulated transcriptional program and response to androgen. Oncogene (2006) 3.48
Regulation of an endogenous locus using a panel of designed zinc finger proteins targeted to accessible chromatin regions. Activation of vascular endothelial growth factor A. J Biol Chem (2001) 3.38
Evidence-based recommendations for the role of exercise in the management of osteoarthritis of the hip or knee--the MOVE consensus. Rheumatology (Oxford) (2004) 3.38
LAT is required for TCR-mediated activation of PLCgamma1 and the Ras pathway. Immunity (1998) 3.36
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell (1995) 3.34
Analysis of effects of salts and uncharged solutes on protein and nucleic acid equilibria and processes: a practical guide to recognizing and interpreting polyelectrolyte effects, Hofmeister effects, and osmotic effects of salts. Adv Protein Chem (1998) 3.30
Dynamic actin polymerization drives T cell receptor-induced spreading: a role for the signal transduction adaptor LAT. Immunity (2001) 3.29
Multiple Morphologies of "Crew-Cut" Aggregates of Polystyrene-b-poly(acrylic acid) Block Copolymers. Science (1995) 3.16
Use of real-time PCR and molecular beacons to detect virus replication in human immunodeficiency virus type 1-infected individuals on prolonged effective antiretroviral therapy. J Virol (1999) 3.15
A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation. Nat Med (1998) 3.15
The transcription factor EPAS-1/hypoxia-inducible factor 2alpha plays an important role in vascular remodeling. Proc Natl Acad Sci U S A (2000) 3.12
High prevalence of cobalamin deficiency in elderly outpatients. J Am Geriatr Soc (1992) 3.12
Microevolution of the direct repeat region of Mycobacterium tuberculosis: implications for interpretation of spoligotyping data. J Clin Microbiol (2002) 3.12
PUMA, a potent killer with or without p53. Oncogene (2008) 3.09
TraI, a LuxI homologue, is responsible for production of conjugation factor, the Ti plasmid N-acylhomoserine lactone autoinducer. Proc Natl Acad Sci U S A (1994) 3.08
Identification and classification of p53-regulated genes. Proc Natl Acad Sci U S A (1999) 3.07
Molecular basis of T cell inactivation by CTLA-4. Science (1998) 3.00
Cardiac-specific expression of heme oxygenase-1 protects against ischemia and reperfusion injury in transgenic mice. Circ Res (2001) 2.98
Stroke risk profile, brain volume, and cognitive function: the Framingham Offspring Study. Neurology (2004) 2.97
Invasion of brain microvascular endothelial cells by group B streptococci. Infect Immun (1997) 2.97
Rickettsial relative associated with male killing in the ladybird beetle (Adalia bipunctata). J Bacteriol (1994) 2.97
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
Isolation of an efficient actin promoter for use in rice transformation. Plant Cell (1990) 2.94
Association between NS3 and NS5 proteins of dengue virus type 2 in the putative RNA replicase is linked to differential phosphorylation of NS5. J Biol Chem (1995) 2.93
Molecular cloning and sequencing of the Mexico isolate of hepatitis E virus (HEV). Virology (1992) 2.92
Sustained photobiological hydrogen gas production upon reversible inactivation of oxygen evolution in the green alga Chlamydomonas reinhardtii. Plant Physiol (2000) 2.92
Hydrogen peroxide is involved in abscisic acid-induced stomatal closure in Vicia faba. Plant Physiol (2001) 2.91
N-WASP deficiency reveals distinct pathways for cell surface projections and microbial actin-based motility. Nat Cell Biol (2001) 2.91
Midlife vascular risk factor exposure accelerates structural brain aging and cognitive decline. Neurology (2011) 2.91
Longitudinal volumetric MRI change and rate of cognitive decline. Neurology (2005) 2.90
Sequence-directed curvature of DNA. Nature (1986) 2.89
Stable exposure of the coreceptor-binding site in a CD4-independent HIV-1 envelope protein. Proc Natl Acad Sci U S A (1999) 2.88
Aerobic walking or strengthening exercise for osteoarthritis of the knee? A systematic review. Ann Rheum Dis (2005) 2.88
Proliferation and differentiation of progenitor cells in the cortex and the subventricular zone in the adult rat after focal cerebral ischemia. Neuroscience (2001) 2.84
Ran stimulates spindle assembly by altering microtubule dynamics and the balance of motor activities. Nat Cell Biol (2001) 2.78
White matter lesions impair frontal lobe function regardless of their location. Neurology (2004) 2.77
Visualizing the kinetics of tumor-cell clearance in living animals. Proc Natl Acad Sci U S A (1999) 2.76
Investigation of the flexibility of DNA using transient electric birefringence. Biopolymers (1981) 2.74
NMDA receptors mediate calcium accumulation in myelin during chemical ischaemia. Nature (2005) 2.74
Use of allelic loss to predict malignant risk for low-grade oral epithelial dysplasia. Clin Cancer Res (2000) 2.71
Evidence for the existence of stable curvature of DNA in solution. Proc Natl Acad Sci U S A (1984) 2.67
Adhesion formation after previous caesarean section-a meta-analysis and systematic review. BJOG (2010) 2.66
Site-directed alkylation and the alternating access model for LacY. Proc Natl Acad Sci U S A (2006) 2.65
The JIL-1 tandem kinase mediates histone H3 phosphorylation and is required for maintenance of chromatin structure in Drosophila. Cell (2001) 2.64
Wild-type human p53 and a temperature-sensitive mutant induce Fas/APO-1 expression. Mol Cell Biol (1995) 2.62