Published in Neurology on December 05, 2007
Brain Network Activation and Gait and Posture in FXTAS (FXTAS-BNA) | NCT02936531
CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome. Neuron (2013) 2.94
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients. EMBO J (2010) 2.43
Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol (2013) 2.41
FMR1: a gene with three faces. Biochim Biophys Acta (2009) 1.77
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem (2008) 1.59
Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum Mol Genet (2009) 1.54
Emerging topics in FXTAS. J Neurodev Disord (2014) 1.47
Novel methylation markers of the dysexecutive-psychiatric phenotype in FMR1 premutation women. Neurology (2015) 1.45
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet (2010) 1.24
Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome. Future Neurol (2009) 1.17
Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord (2008) 1.15
Psychological symptoms correlate with reduced hippocampal volume in fragile X premutation carriers. Am J Med Genet B Neuropsychiatr Genet (2010) 1.14
Young adult female fragile X premutation carriers show age- and genetically-modulated cognitive impairments. Brain Cogn (2011) 1.12
New clinical findings in the fragile X-associated tremor ataxia syndrome (FXTAS). Neurogenetics (2011) 1.06
Capturing the fragile X premutation phenotypes: a collaborative effort across multiple cohorts. Neuropsychology (2012) 0.96
FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95
Associated features in females with an FMR1 premutation. J Neurodev Disord (2014) 0.94
Molecular pathogenesis of fragile X-associated tremor/ataxia syndrome. J Investig Med (2009) 0.93
Genetic reduction of group 1 metabotropic glutamate receptors alters select behaviors in a mouse model for fragile X syndrome. Behav Brain Res (2011) 0.92
RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome. Brain Res (2012) 0.90
Abnormal dendrite and spine morphology in primary visual cortex in the CGG knock-in mouse model of the fragile X premutation. Epilepsia (2012) 0.89
High rates of parkinsonism in adults with autism. J Neurodev Disord (2015) 0.87
Regulatory RNAs in brain function and disorders. Brain Res (2010) 0.87
RNA-mediated pathogenesis in fragile X-associated disorders. Neurosci Lett (2009) 0.87
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysis. J Mol Diagn (2013) 0.87
Mouse models of the fragile x premutation and the fragile X associated tremor/ataxia syndrome. Results Probl Cell Differ (2012) 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
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
Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome. Neurobiol Aging (2013) 0.82
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet (2014) 0.82
Parkinsonism and cognitive decline in a fragile X mosaic male. Mov Disord (2010) 0.81
Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet (2015) 0.80
The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord (2014) 0.80
Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice. J Neurol (2014) 0.79
Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10. J Neuroinflammation (2012) 0.79
Parkinsonism in fragile X-associated tremor/ataxia syndrome (FXTAS): revisited. Parkinsonism Relat Disord (2014) 0.78
Temporal dynamics of attentional selection in adult male carriers of the fragile X premutation allele and adult controls. Front Hum Neurosci (2015) 0.78
Developmental profiles of infants with an FMR1 premutation. J Neurodev Disord (2016) 0.77
Eye movements reveal impaired inhibitory control in adult male fragile X premutation carriers asymptomatic for FXTAS. Neuropsychology (2014) 0.77
Association between macroorchidism and intelligence in FMR1 premutation carriers. Am J Med Genet A (2014) 0.76
Immune mediated disorders in women with a fragile X expansion and FXTAS. Am J Med Genet A (2014) 0.76
New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. Front Genet (2014) 0.76
A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population. Neurol Sci (2015) 0.75
X-inactivation in the clinical phenotype of fragile X premutation carrier sisters. Neurol Genet (2016) 0.75
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics (2016) 0.75
Fragile X-associated tremor/ataxia syndrome: another phenotype of the fragile X gene. Clin Neuropsychol (2016) 0.75
A cross-sectional analysis of orienting of visuospatial attention in child and adult carriers of the fragile X premutation. J Neurodev Disord (2014) 0.75
Current research, diagnosis, and treatment of fragile X-associated tremor/ataxia syndrome. Intractable Rare Dis Res (2014) 0.75
The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology. Clin Neuropsychol (2016) 0.75
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders. Genes (Basel) (2016) 0.75
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Motor Dysfunction Modeled in Mice. Cerebellum (2016) 0.75
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length. Am J Med Genet A (2017) 0.75
Implications of the FMR1 Premutation for Children, Adolescents, Adults, and Their Families. Pediatrics (2017) 0.75
The measurement of observer agreement for categorical data. Biometrics (1977) 216.56
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) 17.00
Unified Huntington's Disease Rating Scale: reliability and consistency. Huntington Study Group. Mov Disord (1996) 8.02
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
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
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci (1997) 4.50
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain (2005) 3.99
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol (2004) 2.90
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol (2002) 2.58
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
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet (2004) 2.33
Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Am J Med Genet (1994) 2.31
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology (2005) 2.04
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol (2007) 2.00
Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord (2007) 1.77
Intranuclear inclusions in neural cells with premutation alleles in fragile X associated tremor/ataxia syndrome. J Med Genet (2004) 1.77
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). J Neurol Sci (2006) 1.75
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet (2007) 1.66
Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology (2006) 1.55
Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol (2005) 1.48
Tests of stepping as indicators of mobility, balance, and fall risk in balance-impaired older adults. J Am Geriatr Soc (2004) 1.40
A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia (2004) 1.38
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet (2005) 1.37
Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol (2003) 1.22
Magnetic resonance imaging study in older fragile X premutation male carriers. Ann Neurol (2005) 1.16
FMR1 premutation as a rare cause of late onset ataxia--evidence for FXTAS in female carriers. J Neurol (2004) 1.15
Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome. Clin Genet (2003) 0.99
The fragile X premutation presenting as postprandial hypotension. Neurology (2004) 0.95
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology (2005) 0.95
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol (2005) 0.89
Serial analysis of gene expression. Science (1995) 60.15
Diagnosis and management of dementia with Lewy bodies: third report of the DLB Consortium. Neurology (2005) 21.67
Dramatic rise in plasma viremia after CD8(+) T cell depletion in simian immunodeficiency virus-infected macaques. J Exp Med (1999) 14.30
Smac, a mitochondrial protein that promotes cytochrome c-dependent caspase activation by eliminating IAP inhibition. Cell (2000) 11.90
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
Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop. Neurology (1996) 8.82
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
Role of LXRs in control of lipogenesis. Genes Dev (2000) 6.98
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
Regulation of absorption and ABC1-mediated efflux of cholesterol by RXR heterodimers. Science (2000) 6.52
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
Core assessment program for intracerebral transplantations (CAPIT). Mov Disord (1992) 5.51
Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway. Mol Cell (2001) 5.19
Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation (2000) 5.09
Arrhythmogenesis and contractile dysfunction in heart failure: Roles of sodium-calcium exchange, inward rectifier potassium current, and residual beta-adrenergic responsiveness. Circ Res (2001) 5.08
Ligand binding to integrins. J Biol Chem (2000) 4.94
The GA5 locus of Arabidopsis thaliana encodes a multifunctional gibberellin 20-oxidase: molecular cloning and functional expression. Proc Natl Acad Sci U S A (1995) 4.80
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature (2000) 4.68
The human homologue of yeast CRM1 is in a dynamic subcomplex with CAN/Nup214 and a novel nuclear pore component Nup88. EMBO J (1997) 4.65
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Breast cancer survival among women under age 50: is mammography detrimental? Lancet (1992) 4.46
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
Infectivity, transmission, and pathology of human-isolated H7N9 influenza virus in ferrets and pigs. Science (2013) 4.17
Assessment of thymic output in adults after haematopoietic stem-cell transplantation and prediction of T-cell reconstitution. Lancet (2000) 4.17
The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake. Cell (1994) 4.12
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
Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. Proc Natl Acad Sci U S A (2000) 4.08
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
From ab initio quantum mechanics to molecular neurobiology: a cation-pi binding site in the nicotinic receptor. Proc Natl Acad Sci U S A (1998) 3.99
Akt activation preserves cardiac function and prevents injury after transient cardiac ischemia in vivo. Circulation (2001) 3.98
A quantum dot single-photon turnstile device. Science (2000) 3.89
Immunobiochemical and molecular biologic characterization of the cell proliferation-associated nuclear antigen that is defined by monoclonal antibody Ki-67. Am J Pathol (1991) 3.82
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
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
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
Prevalence of parkinsonian signs and associated mortality in a community population of older people. N Engl J Med (1996) 3.48
An estrogen receptor-negative breast cancer subset characterized by a hormonally regulated transcriptional program and response to androgen. Oncogene (2006) 3.48
Role of CD8(+) lymphocytes in control of simian immunodeficiency virus infection and resistance to rechallenge after transient early antiretroviral treatment. J Virol (2001) 3.40
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
Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron (2001) 3.37
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell (1995) 3.34
Whole-body optical imaging of green fluorescent protein-expressing tumors and metastases. Proc Natl Acad Sci U S A (2000) 3.24
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
Determinants of car travel on daily journeys to school: cross sectional survey of primary school children. BMJ (1998) 3.11
'Seed' analysis of off-target siRNAs reveals an essential role of Mcl-1 in resistance to the small-molecule Bcl-2/Bcl-XL inhibitor ABT-737. Oncogene (2006) 3.10
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
Activity of neurons in anterior inferior temporal cortex during a short-term memory task. J Neurosci (1993) 3.04
Cardiac-specific expression of heme oxygenase-1 protects against ischemia and reperfusion injury in transgenic mice. Circ Res (2001) 2.98
Dapagliflozin, a novel SGLT2 inhibitor, induces dose-dependent glucosuria in healthy subjects. Clin Pharmacol Ther (2009) 2.98
Dapagliflozin, a novel, selective SGLT2 inhibitor, improved glycemic control over 2 weeks in patients with type 2 diabetes mellitus. Clin Pharmacol Ther (2009) 2.96
Protein composition of the intranuclear inclusions of FXTAS. Brain (2005) 2.95
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
New tricks for modelers from the crystallography toolkit: the particle mesh Ewald algorithm and its use in nucleic acid simulations. Structure (1999) 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
Sequence-directed curvature of DNA. Nature (1986) 2.89
DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology (2007) 2.86
A neural mechanism for working and recognition memory in inferior temporal cortex. Science (1991) 2.86
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
Search for a resonance decaying into WZ boson pairs in pp collisions. Phys Rev Lett (2010) 2.83
Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA (2001) 2.79
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell (1995) 2.78
Ran stimulates spindle assembly by altering microtubule dynamics and the balance of motor activities. Nat Cell Biol (2001) 2.78
Global gene expression profiles of Bacillus subtilis grown under anaerobic conditions. J Bacteriol (2000) 2.77
Mitochondrial endonuclease G is important for apoptosis in C. elegans. Nature (2001) 2.76
Capsulorhexis phymosis following uncomplicated phacoemulsification surgery. Eye (Lond) (1997) 2.76