(Q57677438)

1

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Paul D Ross

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Noha G Bahey

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Mark ES Bailey

5

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Stuart R Cobb

Rett syndrome: revised diagnostic criteria and nomenclature

6

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publication date

November 2015

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published in

Future Neurology

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volume

10

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issue

5

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page(s)

467-484

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cites work

1 reference

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

21 January 2018

1 reference

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

21 January 2018

1 reference

Rett syndrome: a complex disorder with simple roots

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3

21 January 2018

1 reference

Reversal of neurological defects in a mouse model of Rett syndrome

21 January 2018

1 reference

Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

21 January 2018

1 reference

Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome

21 January 2018

1 reference

Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice.

21 January 2018

1 reference

Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

21 January 2018

1 reference

The overlapping spectrum of rett and angelman syndromes: a clinical review

21 January 2018

1 reference

Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome

21 January 2018

1 reference

Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

21 January 2018

1 reference

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

21 January 2018

1 reference

Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

21 January 2018

1 reference

MeCP2: only 100% will do.

21 January 2018

1 reference

The neural circuit basis of Rett syndrome

21 January 2018

1 reference

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

21 January 2018

1 reference

EOS lentiviral vector selection system for human induced pluripotent stem cells.

21 January 2018

1 reference

Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases.

21 January 2018

1 reference

Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model

21 January 2018

1 reference

Donor cell type can influence the epigenome and differentiation potential of human induced pluripotent stem cells

21 January 2018

1 reference

Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

21 January 2018

1 reference

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

21 January 2018

1 reference

Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage

21 January 2018

1 reference

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

21 January 2018

1 reference

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

21 January 2018

1 reference

Investigation of Rett syndrome using pluripotent stem cells

21 January 2018

1 reference

Generation of germline-competent induced pluripotent stem cells

21 January 2018

1 reference

Molecules that promote or enhance reprogramming of somatic cells to induced pluripotent stem cells

21 January 2018

1 reference

Induction of metamorphosis in axolotls (Ambystoma mexicanum).

21 January 2018

1 reference

Mechanism for the learning deficits in a mouse model of neurofibromatosis type 1

21 January 2018

1 reference

A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4

21 January 2018

1 reference

Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.

21 January 2018

1 reference

The HMG-CoA reductase inhibitor lovastatin reverses the learning and attention deficits in a mouse model of neurofibromatosis type 1

21 January 2018

1 reference

Pharmacological rescue of synaptic plasticity, courtship behavior, and mushroom body defects in a Drosophila model of fragile X syndrome

21 January 2018

1 reference

Correction of fragile X syndrome in mice.

21 January 2018

1 reference

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.

21 January 2018

1 reference

Reversal of learning deficits in a Tsc2+/- mouse model of tuberous sclerosis

21 January 2018

1 reference

Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function

21 January 2018

1 reference

Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in Ts65Dn mice, a model for Down syndrome

21 January 2018

1 reference

Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex.

21 January 2018

1 reference

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28.

21 January 2018

1 reference

A mouse model for MeCP2 duplication syndrome: MeCP2 overexpression impairs learning and memory and synaptic transmission

21 January 2018

1 reference

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

21 January 2018

1 reference

A role for glia in the progression of Rett's syndrome

21 January 2018

1 reference

MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

21 January 2018

1 reference

Viral vectors for gene therapy: the art of turning infectious agents into vehicles of therapeutics

21 January 2018

1 reference

Gene therapy with viral vectors

21 January 2018

1 reference

Applications of gene therapy to the CNS.

21 January 2018

1 reference

Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.

21 January 2018

1 reference

Functional correction of established central nervous system deficits in an animal model of lysosomal storage disease with feline immunodeficiency virus-based vectors

21 January 2018

1 reference

Transient gene expression by nonintegrating lentiviral vectors

21 January 2018

1 reference

MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy

21 January 2018

1 reference

Clinical applications involving CNS gene transfer

21 January 2018

1 reference

Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

21 January 2018

1 reference

Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction

21 January 2018

1 reference

AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B.

21 January 2018

1 reference

Phase I trial of intramuscular injection of a recombinant adeno-associated virus alpha 1-antitrypsin (rAAV2-CB-hAAT) gene vector to AAT-deficient adults

21 January 2018

1 reference

Survival advantage of neonatal CNS gene transfer for late infantile neuronal ceroid lipofuscinosis

21 January 2018

1 reference

Modulation of metabolic brain networks after subthalamic gene therapy for Parkinson's disease

21 January 2018

1 reference

AAV-Mediated Gene Therapy for Research and Therapeutic Purposes

21 January 2018

1 reference

Sustained transgene expression despite T lymphocyte responses in a clinical trial of rAAV1-AAT gene therapy

21 January 2018

1 reference

Adenovirus-associated virus vector-mediated gene transfer in hemophilia B

21 January 2018

1 reference

Safety and tolerability of putaminal AADC gene therapy for Parkinson disease

21 January 2018

1 reference

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

21 January 2018

1 reference

Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus

21 January 2018

1 reference

Regional intravascular delivery of AAV-2-F.IX to skeletal muscle achieves long-term correction of hemophilia B in a large animal model

21 January 2018

1 reference

Multiyear therapeutic benefit of AAV serotypes 2, 6, and 8 delivering factor VIII to hemophilia A mice and dogs

21 January 2018

1 reference

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

21 January 2018

1 reference

Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice

21 January 2018

1 reference

Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors

21 January 2018

1 reference

Self-complementary AAV vectors; advances and applications

21 January 2018

1 reference

A segment of the Mecp2 promoter is sufficient to drive expression in neurons

21 January 2018

1 reference

Identification of cis-regulatory elements for MECP2 expression

21 January 2018

1 reference

CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

21 January 2018

1 reference

An atlas of active enhancers across human cell types and tissues

21 January 2018

1 reference

MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively

21 January 2018

1 reference

MeCP2 deficiency disrupts axonal guidance, fasciculation, and targeting by altering Semaphorin 3F function.

21 January 2018

1 reference

Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro.

21 January 2018

1 reference

Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

21 January 2018

1 reference

Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation

21 January 2018

1 reference

Adult neural function requires MeCP2.

21 January 2018

1 reference

Long-term pharmacologically regulated expression of erythropoietin in primates following AAV-mediated gene transfer.

21 January 2018

1 reference

Long-term correction of inhibitor-prone hemophilia B dogs treated with liver-directed AAV2-mediated factor IX gene therapy

21 January 2018

1 reference

Detection of intact rAAV particles up to 6 years after successful gene transfer in the retina of dogs and primates

21 January 2018

1 reference

Long-term follow-up after gene therapy for canavan disease.

21 January 2018

1 reference

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

21 January 2018

1 reference

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

21 January 2018

1 reference

Inflammatory lung disease in Rett syndrome

21 January 2018

1 reference

Biomechanical properties of bone in a mouse model of Rett syndrome

21 January 2018

1 reference

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

21 January 2018

1 reference

Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

21 January 2018

1 reference

A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets

21 January 2018

1 reference

Several rAAV vectors efficiently cross the blood-brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system

21 January 2018

1 reference

Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10

21 January 2018

1 reference

Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

21 January 2018

1 reference

Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer

21 January 2018

1 reference

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

21 January 2018

1 reference

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

1 reference

Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

21 January 2018

1 reference

Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions

21 January 2018

1 reference

Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice.

21 January 2018

1 reference

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

21 January 2018

1 reference

Cellular origins of auditory event-related potential deficits in Rett syndrome

21 January 2018

1 reference

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

1 reference

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

1 reference

Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells

21 January 2018

1 reference

Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

21 January 2018

1 reference

Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics

21 January 2018

1 reference

PTC124 targets genetic disorders caused by nonsense mutations

21 January 2018

1 reference

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations

21 January 2018

1 reference

Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model

21 January 2018

1 reference

Genetic and pharmacological reactivation of the mammalian inactive X chromosome.

21 January 2018

1 reference

Multiplex genome engineering in human cells using all-in-one CRISPR/Cas9 vector system

21 January 2018

1 reference

RNA-guided human genome engineering via Cas9

21 January 2018

1 reference

CRISPR--a widespread system that provides acquired resistance against phages in bacteria and archaea

21 January 2018

1 reference

CRISPR/Cas, the immune system of bacteria and archaea

21 January 2018

1 reference

One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering

21 January 2018

1 reference

In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9

21 January 2018

1 reference

Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients

21 January 2018

1 reference

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.

21 January 2018

1 reference

Mechanism of eukaryotic homologous recombination

21 January 2018

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DNA repair deficiency in neurodegeneration.

21 January 2018

1 reference

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

21 January 2018

1 reference

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

21 January 2018

1 reference

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

21 January 2018

1 reference

Small molecules enhance CRISPR genome editing in pluripotent stem cells.

21 January 2018

1 reference

Obligate ligation-gated recombination (ObLiGaRe): custom-designed nuclease-mediated targeted integration through nonhomologous end joining

21 January 2018

1 reference

Utilization of the AAVS1 safe harbor locus for hematopoietic specific transgene expression and gene knockdown in human ES cells

21 January 2018

1 reference

Evolution and classification of the CRISPR-Cas systems

21 January 2018

1 reference

In vivo genome editing using Staphylococcus aureus Cas9

21 January 2018

1 reference