Published in Neurology on March 16, 2010
Preclinical research in Rett syndrome: setting the foundation for translational success. Dis Model Mech (2012) 1.66
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. J Med Genet (2014) 1.58
Comorbidity clusters in autism spectrum disorders: an electronic health record time-series analysis. Pediatrics (2013) 1.46
Genetic and biologic classification of infantile spasms. Pediatr Neurol (2011) 1.40
NMDA receptor regulation prevents regression of visual cortical function in the absence of Mecp2. Neuron (2012) 1.35
Network hyperexcitability in hippocampal slices from Mecp2 mutant mice revealed by voltage-sensitive dye imaging. J Neurophysiol (2011) 1.33
Experimental models of Rett syndrome based on Mecp2 dysfunction. Exp Biol Med (Maywood) (2011) 1.27
β2-Adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A (2014) 1.23
MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan. J Neurosci (2011) 1.19
The relationship of Rett syndrome and MECP2 disorders to autism. Dialogues Clin Neurosci (2012) 1.18
Rett syndrome: exploring the autism link. Arch Neurol (2011) 1.11
Growth failure and outcome in Rett syndrome: specific growth references. Neurology (2012) 1.10
Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome. Sci Transl Med (2011) 1.04
Rett Syndrome: Crossing the Threshold to Clinical Translation. Trends Neurosci (2016) 0.99
Activity-dependent BDNF release and TRPC signaling is impaired in hippocampal neurons of Mecp2 mutant mice. Proc Natl Acad Sci U S A (2012) 0.93
The phenotype associated with a large deletion on MECP2. Eur J Hum Genet (2012) 0.91
Autism spectrum disorder and epilepsy: Disorders with a shared biology. Epilepsy Behav (2015) 0.88
Epileptogenesis: can the science of epigenetics give us answers? Epilepsy Curr (2012) 0.85
Rett Syndrome: Reaching for Clinical Trials. Neurotherapeutics (2015) 0.85
Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes. Front Cell Neurosci (2015) 0.84
Management of epilepsy in patients with Rett syndrome: perspectives and considerations. Ther Clin Risk Manag (2015) 0.84
The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders. Pediatr Neurol (2015) 0.83
Clinical characteristics of children with rett syndrome. Ann Rehabil Med (2012) 0.83
Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence. PLoS One (2016) 0.82
Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs. Dis Model Mech (2015) 0.82
Clinical review of genetic epileptic encephalopathies. Eur J Med Genet (2012) 0.81
Comparative DNA methylation among females with neurodevelopmental disorders and seizures identifies TAC1 as a MeCP2 target gene. J Neurodev Disord (2013) 0.81
Evaluation of current pharmacological treatment options in the management of Rett syndrome: from the present to future therapeutic alternatives. Curr Clin Pharmacol (2013) 0.80
Longitudinal course of epilepsy in Rett syndrome and related disorders. Brain (2016) 0.80
MeCP2 deficiency results in robust Rett-like behavioural and motor deficits in male and female rats. Hum Mol Genet (2016) 0.78
What you seize is what you get: do we yet understand epilepsy in rett syndrome? Epilepsy Curr (2014) 0.78
Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice. Front Syst Neurosci (2014) 0.78
Genetic and epileptic features in Rett syndrome. Yonsei Med J (2012) 0.77
Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale. J Child Neurol (2015) 0.76
Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors. Pediatr Neurol (2016) 0.76
Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome. Proc Natl Acad Sci U S A (2016) 0.76
Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs (2016) 0.76
Pubertal development in Rett syndrome deviates from typical females. Pediatr Neurol (2014) 0.76
Assessment of Caregiver Inventory for Rett Syndrome. J Autism Dev Disord (2017) 0.75
Why do seizures occur when they do? Situations perceived to be associated with increased or decreased seizure likelihood in people with epilepsy and intellectual disability. Epilepsy Behav (2014) 0.75
Progress in Rett Syndrome: from discovery to clinical trials. Wien Med Wochenschr (2016) 0.75
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology (2008) 3.74
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol (2002) 3.26
Extrapyramidal involvement in Rett's syndrome. Neurology (1990) 1.74
Epilepsy in a representative series of Rett syndrome. Acta Paediatr (2001) 1.29
Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol (2007) 1.17
Rett syndrome: characterization of seizures versus non-seizures. Electroencephalogr Clin Neurophysiol (1998) 1.17
Parental view of epilepsy in Rett Syndrome. Brain Dev (2007) 0.93
Mental health of hospital consultants: the effects of stress and satisfaction at work. Lancet (1996) 7.44
Burnout and psychiatric disorder among cancer clinicians. Br J Cancer (1995) 4.47
Effectiveness of an intervention to reduce HIV transmission risks in HIV-positive people. Am J Prev Med (2001) 3.97
Alendronate for the treatment of osteoporosis in men. N Engl J Med (2000) 3.11
An extremely luminous panchromatic outburst from the nucleus of a distant galaxy. Science (2011) 3.09
Regional brain blood flow in man during acute changes in arterial blood gases. J Physiol (2012) 2.34
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet (1994) 2.25
Cochlear implantation. BMJ (1995) 2.23
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes. Ann Neurol (2000) 2.03
Measurement of leucine metabolism in man from a primed, continuous infusion of L-[1-3C]leucine. Am J Physiol (1980) 2.01
Association of a microRNA-323b polymorphism with the persistence of hepatitis B virus infection by the enhancement of viral replication. J Viral Hepat (2013) 1.98
Extrapyramidal involvement in Rett's syndrome. Neurology (1990) 1.74
Clinical severity and quality of life in children and adolescents with Rett syndrome. Neurology (2011) 1.72
Markers of exposure to spotted fever rickettsiae in patients with chronic illness, including fatigue, in two Australian populations. QJM (2008) 1.68
Metachromatic leukodystrophy: diagnosis with samples of venous blood. Science (1968) 1.67
Relationship of plasma leucine and alpha-ketoisocaproate during a L-[1-13C]leucine infusion in man: a method for measuring human intracellular leucine tracer enrichment. Metabolism (1982) 1.65
The Xenopus dorsalizing factor noggin ventralizes Drosophila embryos by preventing DPP from activating its receptor. Cell (1996) 1.64
Nycodenz: a new nonionic iodinated gradient medium. Anal Biochem (1982) 1.63
Bioterrorism preparedness and response: use of information technologies and decision support systems. Evid Rep Technol Assess (Summ) (2002) 1.61
Multiple sclerosis in Rochester, Minn. A 60-year appraisal. Arch Neurol (1971) 1.58
Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays. Am J Med Genet A (2009) 1.57
The fibrinogen uptake test after hip surgery. Br J Surg (1978) 1.53
The real cost of joint replacement. Br Med J (Clin Res Ed) (1986) 1.52
Genetic polymorphisms in the ABCB1 gene and the effects of fentanyl in Koreans. Clin Pharmacol Ther (2006) 1.51
Progressive hearing loss in infants with asymptomatic congenital cytomegalovirus infection. Pediatrics (1992) 1.50
Early onset systemic Candida infection in extremely preterm neonates. Eur J Pediatr (1996) 1.46
The isolation of bacteria of low pathogenicity from faulty orthopaedic implants. J Hosp Infect (1981) 1.46
Referral for coronary angiography after exercise testing: traditional decision-making versus decision analysis. QJM (1995) 1.45
Early progressive encephalopathy in boys and MECP2 mutations. Neurology (2006) 1.44
Ovarian cancer and asbestos. Environ Res (1967) 1.44
Cortical deafness--a case report and review of the literature. J Neurol Sci (1980) 1.43
Chryseobacterium (Flavobacterium) meningosepticum outbreak associated with colonization of water taps in a neonatal intensive care unit. J Hosp Infect (2001) 1.42
Whole-body leucine and lysine metabolism: response to dietary protein intake in young men. Am J Physiol (1981) 1.41
The effect of verapamil on the pharmacokinetics of adriamycin. Cancer Chemother Pharmacol (1986) 1.41
Should burn blisters be left intact or debrided? J Wound Care (2001) 1.39
Cochlear implantation in a profoundly deaf patient with MELAS syndrome. J Neurol Neurosurg Psychiatry (2001) 1.38
Iodixanol: a nonionic iso-osmotic centrifugation medium for the formation of self-generated gradients. Anal Biochem (1994) 1.37
Don't wait for a sensory level--listen to the symptoms: a prospective audit of the delays in diagnosis of malignant cord compression. Clin Oncol (R Coll Radiol) (2002) 1.37
Chiari type I malformation in children. J Pediatr (1989) 1.36
Enlarged parietal foramina: association with cerebral venous and cortical anomalies. Neurology (2000) 1.33
Foetal malformations and seizure control: 52 months data of the Australian Pregnancy Registry. Eur J Neurol (2006) 1.33
Chronic paroxysmal hemicrania (CPH). The clinical manifestations. A review. Ups J Med Sci Suppl (1980) 1.31
Inhalation aromatherapy during radiotherapy: results of a placebo-controlled double-blind randomized trial. J Clin Oncol (2003) 1.31
Detection of response-predicting mutations in the kinase domain of the epidermal growth factor receptor gene in cholangiocarcinomas. J Cancer Res Clin Oncol (2005) 1.30
Functional roles for PECAM-1 (CD31) and VE-cadherin (CD144) in tube assembly and lumen formation in three-dimensional collagen gels. Am J Pathol (1999) 1.29
Automatic analysis of diabetic peripheral neuropathy using multi-scale quantitative morphology of nerve fibres in corneal confocal microscopy imaging. Med Image Anal (2011) 1.29
Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A (1986) 1.27
Reduction of biogenic amine levels in the Rett syndrome. N Engl J Med (1985) 1.26
Neoplasms of the central nervous system. Epidemiologic considerations. Neurology (1972) 1.22
Docetaxel and cisplatin in combination as first-line chemotherapy for advanced epithelial ovarian cancer. Scottish Gynaecological Cancer Trials Group. J Clin Oncol (1999) 1.22
Electrocardiographic findings in Rett syndrome: an explanation for sudden death? J Pediatr (1994) 1.22
The relationships between post-prandial lipaemia, endothelial function and oxidative stress in healthy individuals and patients with type 2 diabetes. Atherosclerosis (2001) 1.21
Z score prediction model for assessment of bone mineral content in pediatric diseases. J Bone Miner Res (2001) 1.19
Neuropathology of Rett syndrome. Acta Neuropathol (1988) 1.19
Docetaxel plus oblimersen sodium (Bcl-2 antisense oligonucleotide): an EORTC multicenter, randomized phase II study in patients with castration-resistant prostate cancer. Ann Oncol (2009) 1.19
Phase I and pharmacokinetic study of LM985 (flavone acetic acid ester). Cancer Res (1986) 1.19
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology (2005) 1.18
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome. J Child Neurol (1998) 1.16
Compliance with oral drug therapy in patients with hematologic malignancy. J Clin Oncol (1987) 1.16
Optic neuritis and multiple sclerosis. An epidemiologic study. Arch Ophthalmol (1972) 1.15
Rett syndrome and associated movement disorders. Mov Disord (1990) 1.15
Laser therapy of rheumatoid arthritis. Lasers Surg Med (1980) 1.15
Outbreaks and diagnosis of foot-and-mouth disease serotype O in the Republic of Korea, April-June 2010. Transbound Emerg Dis (2012) 1.14
Small molecule inhibitors of ezrin inhibit the invasive phenotype of osteosarcoma cells. Oncogene (2011) 1.14
p21-Activated kinase 4 promotes prostate cancer progression through CREB. Oncogene (2012) 1.12
Total homocysteine and cognition in a tri-ethnic cohort: the Northern Manhattan Study. Neurology (2004) 1.11
Two genes required for meiotic recombination in Drosophila are expressed from a dicistronic message. Genetics (2000) 1.10
Intraoperative motor evoked potential monitoring - a position statement by the American Society of Neurophysiological Monitoring. Clin Neurophysiol (2013) 1.10
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet (1992) 1.10
Mitoxantrone (NSC-301739) in patients with advanced ovarian carcinoma. A phase II study of the Gynecologic Oncology Group. Am J Clin Oncol (1984) 1.10
Patterns of X chromosome inactivation in the Rett syndrome. Brain Dev (1990) 1.09
Ciprofibrate therapy improves endothelial function and reduces postprandial lipemia and oxidative stress in type 2 diabetes mellitus. Circulation (2000) 1.09
Inverted Meckel's diverticulum mimicking an ulcerated pedunculated polyp: detection by single-balloon enteroscopy. Endoscopy (2011) 1.09
Relation of concentrations of Haemophilus influenzae type b in cerebrospinal fluid to late sequelae of patients with meningitis. J Pediatr (1982) 1.09
DNA methylation and histone modification regulate silencing of epithelial cell adhesion molecule for tumor invasion and progression. Oncogene (2007) 1.09
IA-2 autoantibodies in incident type I diabetes patients are associated with a polyadenylation signal polymorphism in GIMAP5. Genes Immun (2007) 1.09
Origin of intact lactoferrin and its DNA-binding fragments found in the urine of human milk-fed preterm infants. Evaluation by stable isotopic enrichment. Pediatr Res (1991) 1.08
Extended weekly dose-dense paclitaxel/carboplatin is feasible and active in heavily pre-treated platinum-resistant recurrent ovarian cancer. Br J Cancer (2009) 1.07
The role of high-mobility group box-1 (HMGB1) in the pathogenesis of asthma. Clin Exp Allergy (2012) 1.07
What happens to people after malignant cord compression? Survival, function, quality of life, emotional well-being and place of care 1 month after diagnosis. Clin Oncol (R Coll Radiol) (2007) 1.06
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis. N Engl J Med (1971) 1.06
Expression and regulation of Toll-like receptor 2 by IL-1beta and fibronectin fragments in human articular chondrocytes. Osteoarthritis Cartilage (2005) 1.06
Krabbe disease: specific MRI and CT findings. Neurology (1986) 1.05
The use of nylon as a denture-base material. J Dent (1986) 1.05
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet (2005) 1.04
Clinical studies of induction agents. XLIII: recovery from althesin--a comparative study with thiopentone and methohexitone. Br J Anaesth (1975) 1.04
Disseminated pelvic actinomycosis presenting as metastatic carcinoma: association with the progestasert intrauterine device. Rev Infect Dis (1992) 1.03
Chronic encephalomyelitis caused by canine distemper virus in a Bengal tiger. J Am Vet Med Assoc (1983) 1.03
Rett syndrome: cerebellar pathology. Pediatr Neurol (1991) 1.02
Serum metabolomics reveals pathways and biomarkers associated with asthma pathogenesis. Clin Exp Allergy (2013) 1.02
Hyrtl's fissure. Otol Neurotol (2002) 1.01
Cerebrospinal fluid biogenic amines and biopterin in Rett syndrome. Ann Neurol (1989) 1.01