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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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MRI-PET Registration with Automated Algorithm

1993 • 1,654 citations

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

1983 • 1,481 citations

MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin

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Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2

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2002 • 511 citations

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

1999 • 502 citations

Comparison of Methods for Analysis of Clinical [¹¹C]Raclopride Studies

1996 • 461 citations

Striatal D₂ receptor status in patients with Parkinson's disease, striatonigral degeneration, and progressive supranuclear palsy, measured with ¹¹C‐raclopride and positron emission tomography

1992 • 395 citations

Diagnostic criteria for rett syndrome

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Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence

1986 • 376 citations

Cerebral Metabolism during Propofol Anesthesia in Humans Studied with Positron Emission Tomography

1995 • 348 citations

Brain dopamine metabolism in patients with Parkinson's disease measured with positron emission tomography.

1986 • 345 citations

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

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Improved method for the determination of propofol in blood by high-performance liquid chromatography with fluorescence detection

1987 • 311 citations

MECP2 mutations account for most cases of typical forms of Rett syndrome

2000 • 296 citations

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

2000 • 282 citations

MECP2 is highly mutated in X-linked mental retardation

2001 • 273 citations

Clinical and [18F] dopa PET findings in early Parkinson's disease.

1995 • 246 citations

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

2000 • 244 citations

MECP2 mutation in male patients with non‐specific X‐linked mental retardation

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1995 • 229 citations

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

2000 • 228 citations

MeCP2 mutations in children with and without the phenotype of Rett syndrome

2001 • 228 citations

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Two affected boys in a Rett syndrome family

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Complementary Positron Emission Tomographic Studies of the Striatal Dopaminergic System in Parkinson's Disease

1995 • 177 citations

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

2000 • 166 citations

The Nonhypnotic Therapeutic Applications of Propofol

1994 • 160 citations

Functional consequences of Rett syndrome mutations on human MeCP2

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Reduction of Biogenic Amine Levels in the Rett Syndrome

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Upregulation of putaminal dopamine D2 receptors in early Parkinson's disease: a comparative PET study with [11C] raclopride and [11C]N-methylspiperone.

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A Mutation Hot Spot for Nonspecific X-Linked Mental Retardation in the MECP2 Gene Causes the PPM-X Syndrome

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1995 • 111 citations

Mutation screening in Rett syndrome patients

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1991 • 107 citations

Methyl-CpG-binding protein 2 mutations in Rett syndrome

2000 • 104 citations

Oropharyngeal Dysfunction and Gastroesophageal Dysmotility Are Present in Girls and Women with Rett Syndrome

1999 • 102 citations

Microscopic Observations of the Brain in Rett Syndrome

1995 • 102 citations

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

2002 • 91 citations

Rett Disorder and the Developing Brain

2001 • 90 citations

Polysomnographic characteristics of patients with Rett syndrome

1994 • 89 citations

Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene

2001 • 89 citations

Striatal ¹⁸F-DOPA Uptake: Absence of an Aging Effect

1993 • 89 citations

Rett syndrome in Spain: mutation analysis and clinical correlations

2001 • 87 citations

Neuroimaging studies in Rett syndrome

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Influence of Mutation Type and Location on Phenotype in 123 Patients with Rett Syndrome

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Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

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The Neuropathology of Rett Syndrome - Overview 1994

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Osteopenia in Rett syndrome

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MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features

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Rett syndrome: Biogenic amines and metabolites in postmortem brain

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Altered neurochemical markers in Rett's syndrome

1991 • 69 citations

Detection of Epstein‐Barr virus in the brain by the polymerase chain reaction

1992 • 60 citations

Spectrum of MECP2 mutations in Rett syndrome

2001 • 59 citations

Effect of partial volume correction on estimates of the influx and cerebral metabolism of 6-[18F]fluoro-L-dopa studied with PET in normal control and Parkinson's disease subjects

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Cerebrospinal fluid values for monoamine metabolites, γ-aminobutyric acid, and other amino compounds in Rett syndrome

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A population-based approach to the investigation of osteopenia in Rett syndrome

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Rett Syndrome: Review of Biological Abnormalities

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Age‐dependent decline of nigrostriatal dopaminergic function: A positron emission tomographic study of grandparents and their grandchildren

1994 • 53 citations

Age-related occurrence of signs and symptoms in the Rett syndrome.

1992 • 53 citations

Does Propofol Interact with D2 Dopamine Receptors?

1994 • 51 citations

Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28.

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Dopaminergic D2 receptor SPECT imaging in Rett syndrome: increase of specific binding in striatum.

1993 • 48 citations

Preliminary Evidence for Neurodegenerative Changes in the Substantia Nigra of Rett Syndrome

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CSF and urine biogenic amine metabolites in Rett syndrome

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Neurochemical alterations in Rett syndrome

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Alterations in Dopaminergic Function in Rett Syndrome

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Cytogenetic and molecular-cytogenetic investigation of Rett syndrome

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Importance of Rett syndrome in child neurology

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Head growth in Rett syndrome

2000 • 32 citations

Propofol decreases stimulated dopamine release in the rat nucleus accumbens by a mechanism independent of dopamine D2, GABAA and NMDA receptors

2000 • 32 citations

Propofol Anesthesia Increases Dopamine and Serotonin Activities at the Somatosensory Cortex in Rats

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Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling

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Mutation Analysis of MECP2 and Clinical Characterization in Korean Patients With Rett Syndrome

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Propofol Anesthesia Increases Dopamine and Serotonin Activities at the Somatosensory Cortex in Rats

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Spectrum and distribution of MECP2 mutations in 64 Italian Rett syndrome girls: tentative genotype/phenotype correlation

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Observations on hand movements in Rett syndrome: a pilot study

1996 • 17 citations

The central autonomic disturbance in Rett syndrome

2001 • 16 citations

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Gross Motor Disability and Head Growth in Rett Syndrome - A Preliminary Report

1995 • 15 citations

Rett Syndrome: Evidence for Normal Dopaminergic Function

1996 • 13 citations

Genetics of Rett syndrome: properties of the newly discovered gene and pathobiology of the disorder

2000 • 13 citations

Altered Methylation Pattern of the G6 PD Promoter in Rett Syndrome

2002 • 9 citations

Closely Related Swedish Rett Syndrome Females - None with MECP2 Mutation Revealed

2001 • 4 citations

Positron emission tomography of brain dopamine D-2 receptors with 11C-raclopride in early Parkinson's disease.

1991 • 3 citations