Rett Syndrome: Review of Biological Abnormalities

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

1999 • 4,776 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

Physiological and pathophysiological roles of excitatory amino acids during central nervous system development

1990 • 1,427 citations

Distinct Mechanism for Antidepressant Activity by Blockade of Central Substance P Receptors

1998 • 1,067 citations

Practice parameter: Screening and diagnosis of autism

2000 • 1,050 citations

Elevated cerebrospinal fluid levels of substance p in patients with the fibromyalgia syndrome

1994 • 677 citations

Developmental changes in brain serotonin synthesis capacity in autistic and nonautistic children

1999 • 590 citations

Substance P as a Transmitter Candidate

1980 • 522 citations

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

1999 • 502 citations

Diagnostic criteria for rett syndrome

1988 • 394 citations

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

1986 • 376 citations

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

2000 • 334 citations

Human positron emission tomographic [¹⁸F]Fluorodopa studies correlate with dopamine cell counts and levels

1993 • 331 citations

An interactive technique for three-dimensional image registration: validation for PET, SPECT, MRI and CT brain studies.

1994 • 313 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

Rett's Syndrome: Prevalence and Impact on Progressive Severe Mental Retardation in Girls

1985 • 281 citations

Topographic projections of substance P and GABA pathways in the striato- and pallido-nigral system: A biochemical and immunohistochemical study

1978 • 264 citations

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

2000 • 244 citations

Regulation of TrkA and ChAT expression in developing rat basal forebrain: evidence that both exogenous and endogenous NGF regulate differentiation of cholinergic neurons

1995 • 224 citations

Rett variants: A suggested model for inclusion criteria

1994 • 216 citations

Evidence for a neurotrophic role of noradrenaline neurons in the postnatal development of rat cerebral cortex

1982 • 208 citations

Neuropathology of Rett syndrome

1988 • 199 citations

Neuroanatomy of Rett syndrome: A volumetric imaging study

1993 • 190 citations

Correlation of striatal fluorodopa uptake in the MPTP Monkey with dopaminergic indices

1993 • 168 citations

Cholinergic regulation of cortical development and plasticity. New twists to an old story.

1998 • 164 citations

Prognosis in autism: do specialist treatments affect long-term outcome?

1997 • 158 citations

Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome.

1988 • 144 citations

Neuroanatomy in Rett syndrome

1997 • 138 citations

SPECT OF THE BRAIN IN CHILDHOOD AUTISM: EVIDENCE FOR A LACK OF NORMAL HEMISPHERIC ASYMMETRY

1995 • 138 citations

Rett syndrome: A disorder affecting early brain growth

1997 • 132 citations

Elevation of substance P-like peptides in the CSF of psychiatric patients.

1984 • 130 citations

Patterns of X chromosome inactivation in the rett syndrome

1990 • 126 citations

Morphological study of neocortical areas in Rett syndrome

1997 • 126 citations

Rett syndrome—Clinical studies and pathophysiological consideration

1984 • 125 citations

The prevalence and incidence of Rett syndrome in Australia.

1997 • 124 citations

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

1999 • 124 citations

Rett's syndrome in the west of Scotland.

1985 • 122 citations

Rett syndrome: characterization of seizures versus non-seizures

1998 • 116 citations

Development of amino acid receptors in frontal cortex from girls with Rett syndrome

1999 • 108 citations

Methyl-CpG-binding protein 2 mutations in Rett syndrome

2000 • 104 citations

Electrocardiographic findings in Rett syndrome: An explanation for sudden death?

1994 • 104 citations

Microscopic Observations of the Brain in Rett Syndrome

1995 • 102 citations

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

1999 • 102 citations

Cerebellar and cerebral abnormalities in Rett syndrome: a quantitative MR analysis.

1992 • 100 citations

The rett girls with preserved speech

1992 • 93 citations

Neonatal Encephalopathy in Two Boys in Families With Recurrent Rett Syndrome

1998 • 93 citations

Rett syndrome—An early catecholamine and indolamine deficient disorder?

1985 • 87 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

Is the girl with Rett syndrome normal at birth?

1998 • 84 citations

The Neuropathology of Rett Syndrome - Overview 1994

1995 • 81 citations

Osteopenia in Rett syndrome

1997 • 81 citations

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

1999 • 77 citations

Rett's Syndrome

1987 • 75 citations

Functional evidence of brain stem immaturity in Rett syndrome.

1997 • 75 citations

High levels of cerebrospinal fluid glutamate in Rett syndrome

1996 • 75 citations

Is the girl with Rett syndrome normal at birth?

1998 • 74 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: Biogenic amines and metabolites in postmortem brain

1989 • 70 citations

Altered neurochemical markers in Rett's syndrome

1991 • 69 citations

Elevated CSF Glutamate in Rett Syndrome

1992 • 68 citations

Cerebrospinal fluid neurotransmitter metabolites in neurologically normal infants and children.

1985 • 67 citations

Lamotrigine in Rett Syndrome

1993 • 63 citations

Prolonged QT interval in Rett syndrome

1999 • 61 citations

Clinical features of the early stage of the Rett syndrome

1990 • 59 citations

Spectrum of MECP2 mutations in Rett syndrome

2001 • 59 citations

Unusual EEG Theta Rhythms over Central Region in Rett Syndrome: Considerations of the Underlying Dysfunction

1997 • 58 citations

Management of Rett Syndrome: A Ten Year Experience

1995 • 57 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

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

1999 • 55 citations

Keutel syndrome: Clinical report and literature review

1986 • 54 citations

Substance P immunoreactivity in Rett syndrome

2000 • 53 citations

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

Reinforcing effects of neurokinin substance P in the ventral pallidum: mediation by the tachykinin NK1 receptor

1999 • 52 citations

Rett Syndrome: 1H Spectroscopic Imaging at 4.1 Tesla

1999 • 50 citations

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

1997 • 49 citations

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

1998 • 48 citations

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

1993 • 48 citations

Abnormalities in neuronal maturation in Rett syndrome neocortex: preliminary molecular correlates.

1997 • 48 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

Immature Pattern of Brain Activity in Rett Syndrome

1990 • 46 citations

CSF and urine biogenic amine metabolites in Rett syndrome

1990 • 45 citations

Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.

1998 • 45 citations

Neurobiology of Rett Syndrome

1995 • 43 citations

Air swallowing in Rett syndrome

2000 • 42 citations

Abnormal Carbohydrate Metabolism in Cerebrospinal Fluid in Rett Syndrome

1994 • 41 citations

EEG and respiration in Rett syndrome

1991 • 41 citations

Lamotrigine in Rett syndrome: Treatment experience from a pilot study

1998 • 41 citations

Rett syndrome: geographic variation in prevalence in Norway

1997 • 40 citations

Polysomnography in Rett syndrome

1993 • 40 citations

Visual information processing and cerebral activation in dyslexic boys: Quantitative EEG analysis during discrimination reading tasks

1992 • 40 citations

Rett syndrome: Spinal cord neuropathology

1988 • 40 citations

Brain stem and spinal cord impairment in rett syndrome: somatosensory and auditory evoked responses investigations

1987 • 40 citations

Alterations in Dopaminergic Function in Rett Syndrome

1995 • 39 citations

Levels of cerebrospinal fluid nerve-growth factor differ in infantile autism and Rett syndrome

1999 • 39 citations

Quantitative ¹ H MR spectroscopic imaging in early Rett syndrome

2000 • 38 citations

Proton magnetic resonance spectroscopy of the brain in three cases of Rett syndrome: comparison with autism and normal controls

1998 • 37 citations

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

1990 • 36 citations

The effects of neonatal basal forebrain lesions oncognition : towards understanding the developmental roleof the cholinergic basal forebrain

1998 • 36 citations

Further EEG observations in children with the rett syndrome

1990 • 36 citations

Neurotrophic Factors in Cerebrospinal Fluid and Serum of Patients With Rett Syndrome

1998 • 35 citations

Rett syndrome: habilitation and management reviewed.

1997 • 35 citations

Quantitative magnetic resonance imaging in Rett syndrome

1991 • 34 citations

Anaesthesia for Rett syndrome

1996 • 34 citations

The pathophysiology of the Rett syndrome from the standpoint of polysomnography

1990 • 34 citations

Mother and daughter with Rett syndrome.

1992 • 34 citations

Membrane cerebral lipids in Rett syndrome

1991 • 33 citations

Rett Syndrome Studies of Natural History and Search for a Genetic Marker

1995 • 31 citations

Abnormal cortical excitability in Rett syndrome

1993 • 31 citations

Child and adolescent psychiatric disorders in a public service over seventy years

1997 • 31 citations

Elevated CSF beta‐endorphin immunoreactivity in Rett's syndrome

1992 • 30 citations

Anatomy of rett syndrome

1986 • 29 citations

Brain perfusion SPECT and EEG findings in Rett syndrome

1997 • 29 citations

Metacarpophalangeal pattern profile and bone age in Rett syndrome: Further radiological clues to the diagnosis

1999 • 28 citations

Behavioral aspects of infantile autism: an ethological description

1997 • 27 citations

Neurophysiological findings in the Rett syndrome, I: EMG, conduction velocity, EEG and somatosensory-evoked potential studies

1989 • 26 citations

Positron emission tomographic study of D2 dopamine receptor binding and CSF biogenic amine metabolites in rett syndrome

1986 • 25 citations

Rett syndrome in Northern Tuscany (Italy): family tree studies

1996 • 25 citations

Dopamine Transporter Changes in Neuropsychiatric Disorders

1997 • 24 citations

Characteristic response to transcranial magnetic stimulation in Rett syndrome

1998 • 24 citations

Cerebral Proton Magnetic Resonance Spectroscopy in Rett Syndrome

1995 • 24 citations

Cerebral Blood Flow and Oxygen Metabolism in Rett Syndrome

1991 • 24 citations

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

2000 • 23 citations

Human genetics: Methylation moves into medicine

2000 • 22 citations

Rett syndrome: EEG presentation

1988 • 22 citations

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

1995 • 21 citations

Über das Wesen des sogenannten Unnaschen Flaschenbazillus

1913 • 20 citations

Cerebral magnetic resonance spectroscopy in Rett syndrome

1993 • 19 citations

Rett syndrome, classical and atypical: genealogical support for common origin.

1996 • 18 citations

Transcranial magnetic stimulation in patients with Rett syndrome: preliminary results.

1997 • 18 citations

Rett Syndrome: Significant Clinical Overlap With Angelman Syndrome but Not With Methylation Status

1998 • 18 citations

Peripheral Nerve Findings in Rett Syndrome

1988 • 17 citations

Molecular Approaches to the Rett Syndrome Gene

1999 • 16 citations

Rett syndrome: clinical profile and EEG abnormalities.

1988 • 15 citations

Rett Syndrome: Evidence for Normal Dopaminergic Function

1996 • 13 citations

Peripheral nerve involvement in the Rett syndrome

1990 • 13 citations

Validation of the Three-Dimensional Acquisition Mode in Positron Emission Tomography for the Quantitation of [¹⁸F]Fluoro-DOPA Uptake in the Human Striata

1998 • 12 citations

Brain perfusion abnormalities in Rett syndrome

1997 • 12 citations

Regional cerebral blood flow abnormalities in Rett syndrome.

1997 • 11 citations

Cerebrospinal Fluid β-Endorphin and Cortisol Study in Rett Syndrome

1991 • 9 citations

Cerebrospinal fluid gangliosides in patients with Rett syndrome and infantile neuronal ceroid lipofuscinosis

1999 • 9 citations

Rett syndrome: the Swedish Genealogic Research Project. New data and present position.

1997 • 4 citations

Cerebrospinal Fluid Rett Syndrome β-Endorphin

1991 • 3 citations

Pedigree analysis of Hungarian Rett syndrome girls.

1997 • 3 citations