Rett syndrome: review of biological abnormalities. (Q30639662)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

review article

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title

Rett syndrome: review of biological abnormalities (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

0 references

H G Dunn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

P M MacLeod

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

publication date

1 February 2001

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

Canadian Journal of Neurological Sciences

5 November 2019

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

volume

28

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5 November 2019

issue

1

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5 November 2019

page(s)

16-29

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

The Rett girls with preserved speech

5 November 2019

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Rett syndrome: cerebellar pathology

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Lamotrigine in Rett syndrome

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7 January 2021

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

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7 January 2021

Further EEG observations in children with the Rett syndrome.

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7 January 2021

Rett syndrome: geographic variation in prevalence in Norway

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The neuropathology of Rett syndrome--overview 1994.

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

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7 January 2021

Altered development of glutamate and GABA receptors in the basal ganglia of girls with Rett syndrome

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7 January 2021

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

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Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence

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7 January 2021

High levels of cerebrospinal fluid glutamate in Rett syndrome

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7 January 2021

Cortical reflex myoclonus in rett syndrome

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Cerebral proton magnetic resonance spectroscopy in Rett syndrome

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Dopamine Transporter Changes in Neuropsychiatric Disorders

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Methylation moves into medicine

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7 January 2021

The effects of neonatal basal forebrain lesions on cognition: towards understanding the developmental role of the cholinergic basal forebrain

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7 January 2021

Alterations in dopaminergic function in Rett syndrome

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7 January 2021

Management of Rett syndrome: a ten year experience

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7 January 2021

Molecular approaches to the Rett syndrome gene

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7 January 2021

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

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7 January 2021

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

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7 January 2021

Lamotrigine in Rett syndrome: Treatment experience from a pilot study

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7 January 2021

Methyl-CpG-binding protein 2 mutations in Rett syndrome

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7 January 2021

Rett syndrome: A disorder affecting early brain growth

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7 January 2021

Neonatal encephalopathy in two boys in families with recurrent Rett syndrome

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7 January 2021

Breaking the silence in Rett syndrome

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7 January 2021

Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society

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7 January 2021

Substance P as a Transmitter Candidate

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7 January 2021

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

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7 January 2021

Unusual EEG theta rhythms over central region in Rett syndrome: considerations of the underlying dysfunction

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7 January 2021

Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group

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7 January 2021

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

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7 January 2021

Osteopenia in Rett syndrome

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7 January 2021

Validation of the three-dimensional acquisition mode in positron emission tomography for the quantitation of [18F]fluoro-DOPA uptake in the human striata

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

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7 January 2021

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

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7 January 2021

Quantitative 1H MR spectroscopic imaging in early Rett syndrome

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7 January 2021

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

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7 January 2021

Anaesthesia for Rett syndrome

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7 January 2021

Elevated CSF beta-endorphin immunoreactivity in Rett's syndrome: report of 158 cases and comparison with leukemic children

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7 January 2021

Neurotrophic factors in cerebrospinal fluid and serum of patients with Rett syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder

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7 January 2021

Morphological study of neocortical areas in Rett syndrome

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7 January 2021

Abnormal cortical excitability in Rett syndrome

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7 January 2021

Cerebrospinal fluid beta-endorphin and cortisol study in Rett syndrome

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7 January 2021

Preliminary evidence for neurodegenerative changes in the substantia nigra of Rett syndrome

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7 January 2021

Rett syndrome: characterization of seizures versus non-seizures

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7 January 2021

Rett syndrome--an early catecholamine and indolamine deficient disorder?

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7 January 2021

CSF and urine biogenic amine metabolites in Rett syndrome

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7 January 2021

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

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7 January 2021

Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies

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7 January 2021

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

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7 January 2021

Rett syndrome in Sweden

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7 January 2021

Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death

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7 January 2021

Substance P immunoreactivity in Rett syndrome

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7 January 2021

Prolonged QT interval in Rett syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rett's syndrome: prevalence and impact on progressive severe mental retardation in girls

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7 January 2021

Rett syndrome studies of natural history and search for a genetic marker

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7 January 2021

Low levels of nerve growth factor in cerebrospinal fluid of children with Rett syndrome.

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7 January 2021

Membrane cerebral lipids in Rett syndrome

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7 January 2021

Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome

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7 January 2021

Immature pattern of brain activity in Rett syndrome

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7 January 2021

EEG and respiration in Rett syndrome

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7 January 2021

Peripheral nerve findings in Rett syndrome

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7 January 2021

Neuropathology of Rett syndrome

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7 January 2021

Rett syndrome: biogenic amines and metabolites in postmortem brain

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7 January 2021

Peripheral nerve involvement in the Rett syndrome

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7 January 2021

Rett's syndrome. Correlation of electroencephalographic characteristics with clinical staging

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7 January 2021

GDNF: a glial cell line-derived neurotrophic factor for midbrain dopaminergic neurons

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7 January 2021

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

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7 January 2021

Abnormal carbohydrate metabolism in cerebrospinal fluid in Rett syndrome

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7 January 2021

Rett variants: a suggested model for inclusion criteria

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7 January 2021

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

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7 January 2021

Air swallowing in Rett syndrome

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7 January 2021

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

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7 January 2021

Anatomy of Rett syndrome

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7 January 2021

Neurobiology of Rett syndrome

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.

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7 January 2021

Brain perfusion abnormalities in Rett syndrome: a qualitative and quantitative SPET study with 99Tc(m)-ECD.

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7 January 2021

Characteristic response to transcranial magnetic stimulation in Rett syndrome

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7 January 2021

Altered neurochemical markers in Rett's syndrome

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7 January 2021

Elevated CSF glutamate in Rett syndrome

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7 January 2021

Microscopic Observations of the Brain in Rett Syndrome

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7 January 2021

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

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7 January 2021

Cerebrospinal fluid beta-endorphin in Rett syndrome

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7 January 2021

Rett syndrome: spinal cord neuropathology

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7 January 2021

Rett's syndrome in the west of Scotland

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Rett syndrome: 1H spectroscopic imaging at 4.1 Tesla

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7 January 2021

SPECT of the brain in childhood autism: evidence for a lack of normal hemispheric asymmetry

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7 January 2021

Rett syndrome: EEG presentation

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7 January 2021

Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status

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7 January 2021

Neuroanatomy of Rett syndrome: a volumetric imaging study

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7 January 2021

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

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7 January 2021

Brain perfusion SPECT and EEG findings in Rett syndrome

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7 January 2021

Cerebral blood flow and oxygen metabolism in rett syndrome

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7 January 2021

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

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7 January 2021

Altered cholinergic function in the basal forebrain of girls with Rett syndrome

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7 January 2021

Distinct mechanism for antidepressant activity by blockade of central substance P receptors

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7 January 2021

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

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7 January 2021

Neuroanatomy in Rett syndrome: cerebral cortex and posterior fossa

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7 January 2021

Patterns of X chromosome inactivation in the Rett syndrome

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7 January 2021

10.1017/S0317167100052513

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11252289 AND SRC:MED&resulttype=core&format=json

5 November 2019

1 reference