Rett Syndrome - an update

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

1999 • 4,776 citations

Methylation-Induced Repression— Belts, Braces, and Chromatin

1999 • 1,823 citations

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

2001 • 1,502 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

Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice

2001 • 1,241 citations

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

1999 • 502 citations

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

2000 • 334 citations

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

2001 • 228 citations

Rett syndrome

1994 • 215 citations

Gene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification

2001 • 200 citations

Neuropathology of Rett syndrome

1988 • 199 citations

Two affected boys in a Rett syndrome family

2000 • 192 citations

Neuroanatomy of Rett syndrome: A volumetric imaging study

1993 • 190 citations

Pervasive neuroanatomic abnormalities of the brain in three cases of Rett's syndrome

1995 • 172 citations

Rett syndrome: clinical peculiarities and biological mysteries

1995 • 140 citations

Neuroanatomy in Rett syndrome

1997 • 138 citations

A complex pattern of evolutionary conservation and alternative polyadenylation within the long 3"-untranslated region of the methyl-CpG-binding protein 2 gene (MeCP2) suggests a regulatory role in gene expression

1999 • 134 citations

Decreased Dendritic Branching in Frontal, Motor and Limbic Cortex in Rett Syndrome Compared with Trisomy 21

1998 • 133 citations

Rett syndrome: A disorder affecting early brain growth

1997 • 132 citations

Rett's syndrome: Characterization of respiratory patterns and sleep

1987 • 128 citations

Morphological study of neocortical areas in Rett syndrome

1997 • 126 citations

Altered Development of Glutamate and GABA Receptors in the Basal Ganglia of Girls with Rett Syndrome

1999 • 124 citations

Rett syndrome and associated movement disorders

1990 • 124 citations

Neuropathology of Rett syndrome

2002 • 121 citations

Expression Pattern of the Rett Syndrome Gene MeCP2 in Primate Prefrontal Cortex

2001 • 114 citations

Cerebrospinal fluid biogenic amines and biopterin in rett syndrome

1989 • 104 citations

Review of Rett Syndrome

1997 • 102 citations

Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis.

1992 • 86 citations

Rett syndrome: Cerebellar pathology

1990 • 84 citations

Neuropathology of Rett Syndrome: Case Report With Neuronal and Mitochondrial Abnormalities in the Brain

1994 • 83 citations

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

2001 • 78 citations

Altered Cholinergic Function in the Basal Forebrain of Girls with Rett Syndrome

1999 • 77 citations

Reduced Heart Rate Variability in Patients Affected with Rett Syndrome. A Possible Explanation for Sudden Death

1999 • 73 citations

Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone

1994 • 72 citations

RETT SYNDROME: NEUROBIOLOGICAL CHANGES UNDERLYING SPECIFIC SYMPTOMS

1997 • 67 citations

VISION, COGNITION AND DEVELOPMENTAL CHARACTERISTICS OF GIRLS AND WOMEN WITH RETT SYNDROME

1996 • 65 citations

Rett Syndrome and Mitochondrial Enzyme Deficiencies

1991 • 64 citations

EEG development in Rett syndrome. A study of 30 cases

1989 • 64 citations

Neurophysiological findings in the Rett syndrome, II: Visual and auditory brainstem, middle and late evoked responses

1989 • 62 citations

Low Levels of Nerve Growth Factor in Cerebrospinal Fluid of Children With Rett Syndrome

1996 • 56 citations

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

1988 • 56 citations

Rett Syndrome: Review of Biological Abnormalities

2001 • 54 citations

Mitochondrial alterations in Rett syndrome

1989 • 54 citations

Substance P immunoreactivity in Rett syndrome

2000 • 53 citations

Genetic basis of rett syndrome

2002 • 50 citations

Decreased cerebrospinal fluid levels of substance P in patients with Rett syndrome

1997 • 49 citations

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

1993 • 48 citations

Neuronal instability: implications for Rett's syndrome

2001 • 47 citations

Cortical reflex myoclonus in rett syndrome

1998 • 47 citations

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

1995 • 46 citations

Preliminary brain autopsy findings in progredient rett syndrome

1986 • 46 citations

CSF and urine biogenic amine metabolites in Rett syndrome

1990 • 45 citations

Neurochemical alterations in Rett syndrome

1993 • 43 citations

Rett syndrome: findings suggesting axonopathy and mitochondrial abnormalities

1990 • 42 citations

Quantitative ¹ H MR spectroscopic imaging in early Rett syndrome

2000 • 38 citations

Reduced Nerve Growth Factor in Rett Syndrome Postmortem Brain Tissue

2000 • 37 citations

Cerebrospinal fluid studies in the Rett syndrome: Biogenic amines and β-endorphins

1990 • 36 citations

Further EEG observations in children with the rett syndrome

1990 • 36 citations

Correlation of electroencephalogram, respiration and movement in the Rett syndrome

1990 • 35 citations

Auditory evoked potentials in Rett syndrome.

1994 • 35 citations

Rett syndrome: habilitation and management reviewed.

1997 • 35 citations

The pathophysiology of the Rett syndrome from the standpoint of polysomnography

1990 • 34 citations

Membrane cerebral lipids in Rett syndrome

1991 • 33 citations

Rett Syndrome: Investigation of Nine Patients, including PET Scan

2002 • 32 citations

Decrease in benzodiazepine receptor binding in the brains of adult patients with Rett syndrome

1998 • 32 citations

Brain perfusion SPECT and EEG findings in Rett syndrome

1997 • 29 citations

Brain glucose metabolism in Rett Syndrome

2002 • 28 citations

Morphological Study of the Entorhinal Cortex, Hippocampal Formation, and Basal Ganglia in Rett Syndrome Patients

1999 • 27 citations

Dopamine Transporter Changes in Neuropsychiatric Disorders

1997 • 24 citations

Characteristic response to transcranial magnetic stimulation in Rett syndrome

1998 • 24 citations

Decreased cerebrospinal fluid levels of ?-phenylethylamine in patients with Rett syndrome

2000 • 23 citations

Rett syndrome: Abnormal membrane‐bound lamellated inclusions in neurons and oligodendroglia

1988 • 23 citations

A double blind trial of bromocriptine in the Rett syndrome

1990 • 21 citations

Oxidative Metabolism in Rett Syndrome: 2. Biochemical and Molecular Studies

1995 • 21 citations

Cerebral magnetic resonance spectroscopy in Rett syndrome

1993 • 19 citations

Proton MR spectroscopy in Rett syndrome

2002 • 18 citations

[Neuropathology and immunohistochemistry of brains with Rett syndrome].

2002 • 15 citations

L-Carnitine as a Treatment for Rett Syndrome

1993 • 14 citations

Peripheral nerve involvement in the Rett syndrome

1990 • 13 citations

Brain perfusion abnormalities in Rett syndrome

1997 • 12 citations

Deleted Work

1955 • 0 citations