Published in Ann Neurol on January 01, 2005
Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A (2008) 2.91
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology (2007) 1.80
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
Size bias of fragile X premutation alleles in late-onset movement disorders. J Med Genet (2006) 1.54
Prevalence of CGG expansions of the FMR1 gene in a US population-based sample. Am J Med Genet B Neuropsychiatr Genet (2012) 1.49
Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS. Genes Brain Behav (2012) 1.44
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
The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am J Med Genet B Neuropsychiatr Genet (2009) 1.37
Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet (2008) 1.32
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
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. Am J Hum Genet (2008) 1.29
Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. Gen Hosp Psychiatry (2007) 1.26
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
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses. Genet Med (2011) 1.07
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA (2007) 1.04
Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice. Behav Brain Res (2011) 1.04
Cortisol response to behavior problems in FMR1 premutation mothers of adolescents and adults with fragile X syndrome: A diathesis-stress model. Int J Behav Dev (2012) 1.00
Daily health symptoms of mothers of adolescents and adults with fragile x syndrome and mothers of adolescents and adults with autism spectrum disorder. J Autism Dev Disord (2012) 0.99
Curvilinear association of CGG repeats and age at menopause in women with FMR1 premutation expansions. Am J Med Genet B Neuropsychiatr Genet (2014) 0.91
Unstable mutations in the FMR1 gene and the phenotypes. Adv Exp Med Biol (2012) 0.84
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet (2014) 0.82
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report. BMC Med Genet (2007) 0.82
Distribution and frequency of intranuclear inclusions in female CGG KI mice modeling the fragile X premutation. Brain Res (2012) 0.80
X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscul Disord (2012) 0.80
Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis. J Autism Dev Disord (2015) 0.80
Neurocognitive endophenotypes in CGG KI and Fmr1 KO mouse models of Fragile X-Associated disorders: an analysis of the state of the field. F1000Res (2013) 0.76
Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders. Genes (Basel) (2016) 0.75
A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics (2016) 0.75
X-inactivation in the clinical phenotype of fragile X premutation carrier sisters. Neurol Genet (2016) 0.75
Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism. Neurol Sci (2016) 0.75
A double-blind controlled trial of bilateral fetal nigral transplantation in Parkinson's disease. Ann Neurol (2003) 6.21
Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders. Mov Disord (2003) 4.56
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90
Missing pieces in the Parkinson's disease puzzle. Nat Med (2010) 2.90
Depression rating scales in Parkinson's disease: critique and recommendations. Mov Disord (2007) 2.62
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
Apathy and anhedonia rating scales in Parkinson's disease: critique and recommendations. Mov Disord (2008) 2.28
The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the non-motor symptoms of Parkinson's disease. Mov Disord (2011) 2.05
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol (2003) 2.01
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet (2003) 1.98
Levodopa-induced dyskinesias. Mov Disord (2007) 1.94
The placebo treatments in neurosciences: New insights from clinical and neuroimaging studies. Neurology (2008) 1.92
Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A (2003) 1.74
Parkinson disease with old-age onset: a comparative study with subjects with middle-age onset. Arch Neurol (2003) 1.74
Scales to assess psychosis in Parkinson's disease: Critique and recommendations. Mov Disord (2008) 1.71
A 12-year population-based study of psychosis in Parkinson disease. Arch Neurol (2010) 1.70
The Movement Disorder Society Evidence-Based Medicine Review Update: Treatments for the motor symptoms of Parkinson's disease. Mov Disord (2011) 1.70
Diffusion tensor imaging of Parkinson's disease, atypical parkinsonism, and essential tremor. Mov Disord (2013) 1.68
Priorities in Parkinson's disease research. Nat Rev Drug Discov (2011) 1.66
Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med (2006) 1.66
Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res (2004) 1.64
Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Mov Disord (2014) 1.63
Neuropathic features in fragile X premutation carriers. Am J Med Genet A (2007) 1.56
Progressive worsening of spatial and chromatic processing deficits in Parkinson disease. Arch Neurol (2002) 1.55
Sonic hedgehog signaling mediates epithelial-mesenchymal communication and promotes renal fibrosis. J Am Soc Nephrol (2012) 1.55
Sham neurosurgical procedures in clinical trials for neurodegenerative diseases: scientific and ethical considerations. Lancet Neurol (2012) 1.54
Part 1: the history of 19th century neurology and the American Neurological Association. Ann Neurol (2003) 1.54
A responsive outcome for Parkinson's disease neuroprotection futility studies. Ann Neurol (2005) 1.48
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
Measurement of costs and scales for outcome evaluation in health economic studies of Parkinson's disease. Mov Disord (2013) 1.44
Ultra-deep sequencing enables high-fidelity recovery of biodiversity for bulk arthropod samples without PCR amplification. Gigascience (2013) 1.42
Repeated visual hallucinations in Parkinson's disease as disturbed external/internal perceptions: focused review and a new integrative model. Mov Disord (2005) 1.41
The origins of scientific cinematography and early medical applications. Neurology (2004) 1.39
Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev (2004) 1.36
Health-related quality-of-life scales in Parkinson's disease: critique and recommendations. Mov Disord (2011) 1.31
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res (2011) 1.28
Tubule-specific ablation of endogenous β-catenin aggravates acute kidney injury in mice. Kidney Int (2012) 1.25
Anxiety rating scales in Parkinson's disease: critique and recommendations. Mov Disord (2008) 1.24
Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol (2003) 1.22
The etiopathogenesis of Parkinson disease and suggestions for future research. Part I. J Neuropathol Exp Neurol (2007) 1.21
Uncovering the genetic landscape for multiple sleep-wake traits. PLoS One (2009) 1.21
Expanded and independent validation of the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS). J Neurol (2012) 1.20
Dystonia rating scales: critique and recommendations. Mov Disord (2013) 1.17
Contribution of Jules Froment to the study of parkinsonian rigidity. Mov Disord (2007) 1.16
Clinical differences among mild cognitive impairment subtypes in Parkinson's disease. Mov Disord (2012) 1.15
Hallucinations in Parkinson disease. Nat Rev Neurol (2009) 1.13
Open-label flexible-dose pilot study to evaluate the safety and tolerability of aripiprazole in patients with psychosis associated with Parkinson's disease. Mov Disord (2006) 1.12
Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet (2009) 1.11
Scales to assess sleep impairment in Parkinson's disease: critique and recommendations. Mov Disord (2010) 1.10
Fatigue rating scales critique and recommendations by the Movement Disorders Society task force on rating scales for Parkinson's disease. Mov Disord (2010) 1.09
Glucocorticoids suppress selected components of the senescence-associated secretory phenotype. Aging Cell (2012) 1.08
Defining optimal cutoff scores for cognitive impairment using Movement Disorder Society Task Force criteria for mild cognitive impairment in Parkinson's disease. Mov Disord (2013) 1.07
Multicenter, open-label, trial of sarizotan in Parkinson disease patients with levodopa-induced dyskinesias (the SPLENDID Study). Clin Neuropharmacol (2004) 1.07
Validation of the Italian version of the Movement Disorder Society--Unified Parkinson's Disease Rating Scale. Neurol Sci (2012) 1.06
Short-term and practice effects of metronome pacing in Parkinson's disease patients with gait freezing while in the 'on' state: randomized single blind evaluation. Parkinsonism Relat Disord (2004) 1.05
Task force report: scales for screening and evaluating tremor: critique and recommendations. Mov Disord (2013) 1.05
Polymorphisms of CYP2C19 gene are associated with the efficacy of thalidomide based regimens in multiple myeloma. Haematologica (2007) 1.04
Dynamic refolding of IFN-gamma mRNA enables it to function as PKR activator and translation template. Nat Chem Biol (2009) 1.04
Identification of causal genes, networks, and transcriptional regulators of REM sleep and wake. Sleep (2011) 1.03
Non-linearity of Parkinson's disease progression: implications for sample size calculations in clinical trials. Clin Trials (2005) 1.02
Movement disorders caused by medical disease. Semin Neurol (2009) 1.02
Determinants of quality of life in children with Gilles de la Tourette syndrome. Mov Disord (2009) 1.01
Diagnosing PD-MCI by MDS Task Force criteria: how many and which neuropsychological tests? Mov Disord (2014) 1.01
Activation of hepatocyte growth factor receptor, c-met, in renal tubules is required for renoprotection after acute kidney injury. Kidney Int (2013) 0.99
Dissociations among daytime sleepiness, nighttime sleep, and cognitive status in Parkinson's disease. Parkinsonism Relat Disord (2013) 0.99
Using global statistical tests in long-term Parkinson's disease clinical trials. Mov Disord (2009) 0.98
Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol (2010) 0.98
Hallucinations in Parkinson disease in the prelevodopa era. Neurology (2006) 0.98
miR-181a sensitizes resistant leukaemia HL-60/Ara-C cells to Ara-C by inducing apoptosis. J Cancer Res Clin Oncol (2012) 0.98
The past, present, and future of telemedicine for Parkinson's disease. Mov Disord (2014) 0.97
Csnk1e is a genetic regulator of sensitivity to psychostimulants and opioids. Neuropsychopharmacology (2011) 0.96
Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A (2006) 0.96
Visuoperceptive region atrophy independent of cognitive status in patients with Parkinson's disease with hallucinations. Brain (2014) 0.95
Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet A (2003) 0.95
Association study of Parkin gene polymorphisms with idiopathic Parkinson disease. Arch Neurol (2003) 0.95
Wnt3a regulates proliferation, apoptosis and function of pancreatic NIT-1 beta cells via activation of IRS2/PI3K signaling. J Cell Biochem (2013) 0.95
Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med (2005) 0.95
Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. Arch Neurol (2004) 0.95
Single-blind clinical trial of psychotherapy for treatment of psychogenic movement disorders. Parkinsonism Relat Disord (2005) 0.94
Validation of the MDS-UPDRS Part I for nonmotor symptoms in Parkinson's disease. Mov Disord (2011) 0.93
Kidney tubular β-catenin signaling controls interstitial fibroblast fate via epithelial-mesenchymal communication. Sci Rep (2013) 0.93
Lasp anchors the Drosophila male stem cell niche and mediates spermatid individualization. Mech Dev (2008) 0.92
Single detection of human bocavirus 1 with a high viral load in severe respiratory tract infections in previously healthy children. BMC Infect Dis (2014) 0.91
Task force report on scales to assess dyskinesia in Parkinson's disease: critique and recommendations. Mov Disord (2010) 0.91
Clinical validation of Movement Disorder Society-recommended diagnostic criteria for Parkinson's disease with dementia. Mov Disord (2011) 0.91
Dysautonomia rating scales in Parkinson's disease: sialorrhea, dysphagia, and constipation--critique and recommendations by movement disorders task force on rating scales for Parkinson's disease. Mov Disord (2009) 0.90
Movement disorder society unified Parkinson disease rating scale experiences in daily living: longitudinal changes and correlation with other assessments. Mov Disord (2013) 0.90
The efficiency of the human observer for lesion detection and localization in emission tomography. Phys Med Biol (2009) 0.90
The MDS-UPDRS Part II (motor experiences of daily living) resulted useful for assessment of disability in Parkinson's disease. Parkinsonism Relat Disord (2013) 0.90
Deceased donor liver transplantation in infants and small children: are partial grafts riskier than whole organs? Liver Transpl (2013) 0.90
Force control deficits in individuals with Parkinson's disease, multiple systems atrophy, and progressive supranuclear palsy. PLoS One (2013) 0.89
A longitudinal program for biomarker development in Parkinson's disease: a feasibility study. Mov Disord (2009) 0.89
Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease. Neurobiol Dis (2008) 0.89
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr (2008) 0.88
Analysis of growth factor signaling in genetically diverse breast cancer lines. BMC Biol (2014) 0.88