Rett Syndrome: Crossing the Threshold to Clinical Translation
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A. Bird | B. Philpot | S. Gray | D. Menon | D. Katz | D. Tarquinio | Monica Coenraads | Debashish U. Menon
[1] N. Picard,et al. Chronic Administration of the N-Methyl-D-Aspartate Receptor Antagonist Ketamine Improves Rett Syndrome Phenotype , 2016, Biological Psychiatry.
[2] M. Sceniak,et al. Mechanisms of Functional Hypoconnectivity in the Medial Prefrontal Cortex of Mecp2 Null Mice. , 2016, Cerebral cortex.
[3] Gerald Schwank,et al. Advances in therapeutic CRISPR/Cas9 genome editing. , 2016, Translational research : the journal of laboratory and clinical medicine.
[4] H. Zoghbi,et al. MECP2 disorders: from the clinic to mice and back. , 2015, The Journal of clinical investigation.
[5] P. Lindberg,et al. Communication intervention in Rett syndrome: a survey of speech language pathologists in Swedish health services , 2015, Disability and rehabilitation.
[6] Y. Blat,et al. Drug Discovery of Therapies for Duchenne Muscular Dystrophy , 2015, Journal of biomolecular screening.
[7] Wei Li,et al. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome , 2015, Proceedings of the National Academy of Sciences.
[8] S. Pati,et al. Rett Syndrome: Reaching for Clinical Trials , 2015, Neurotherapeutics.
[9] Lisa V. Hampson,et al. Elicitation of Expert Prior Opinion: Application to the MYPAN Trial in Childhood Polyarteritis Nodosa , 2015, Pediatric Rheumatology.
[10] Harrison W. Gabel,et al. Disruption of DNA methylation-dependent long gene repression in Rett syndrome , 2015, Nature.
[11] A. Bird,et al. Rett syndrome: a complex disorder with simple roots , 2015, Nature Reviews Genetics.
[12] Wei Li,et al. Excitation/inhibition imbalance and impaired synaptic inhibition in hippocampal area CA3 of Mecp2 knockout mice , 2015, Hippocampus.
[13] J. Blay,et al. Clinical trial designs for rare diseases: Studies developed and discussed by the International Rare Cancers Initiative , 2015, European journal of cancer.
[14] M. Banasr,et al. BDNF Release Is Required for the Behavioral Actions of Ketamine , 2014, The international journal of neuropsychopharmacology.
[15] Tianlin Cheng,et al. Conditional deletion of Mecp2 in parvalbumin-expressing GABAergic cells results in the absence of critical period plasticity , 2014, Nature Communications.
[16] D. Bedwell,et al. Therapeutics based on stop codon readthrough. , 2014, Annual review of genomics and human genetics.
[17] Manel Esteller,et al. MeCP2: the long trip from a chromatin protein to neurological disorders. , 2014, Trends in molecular medicine.
[18] Michael R. Green,et al. Genetic and pharmacological reactivation of the mammalian inactive X chromosome , 2014, Proceedings of the National Academy of Sciences.
[19] Hye-Seung Lee,et al. Developmental delay in Rett syndrome: data from the natural history study , 2014, Journal of Neurodevelopmental Disorders.
[20] H. Zoghbi,et al. Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice , 2014, eLife.
[21] P. Williamson,et al. Methodology of clinical trials for rare diseases. , 2014, Best practice & research. Clinical rheumatology.
[22] Heather M. O'Leary,et al. Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome , 2014, Proceedings of the National Academy of Sciences.
[23] Z. Qiu,et al. MeCP2 suppresses nuclear microRNA processing and dendritic growth by regulating the DGCR8/Drosha complex. , 2014, Developmental cell.
[24] A. Kesselheim,et al. Strategies for Postmarketing Surveillance of Drugs for Rare Diseases , 2014, Clinical pharmacology and therapeutics.
[25] T. Durand,et al. Effects of ω-3 PUFAs Supplementation on Myocardial Function and Oxidative Stress Markers in Typical Rett Syndrome , 2014, Mediators of inflammation.
[26] W. Kaufmann,et al. Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome , 2014, Journal of Medical Genetics.
[27] Guoping Fan,et al. Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain , 2013, Nature Neuroscience.
[28] J. Ramirez,et al. Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models , 2013, Respiratory Physiology & Neurobiology.
[29] David A. Orlando,et al. Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons. , 2013, Cell stem cell.
[30] N. Yonemoto,et al. Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients , 2013, Journal of Neurology.
[31] A. Bird,et al. Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome , 2013, The Journal of Neuroscience.
[32] Kairong Cui,et al. Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition , 2013, Cell Research.
[33] A. Bird,et al. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor , 2013, Nature Neuroscience.
[34] R. Duman,et al. Activation of Mammalian Target of Rapamycin and Synaptogenesis: Role in the Actions of Rapid-Acting Antidepressants , 2013, Biological Psychiatry.
[35] L. Ricceri,et al. Rett syndrome treatment in mouse models: Searching for effective targets and strategies , 2013, Neuropharmacology.
[36] F. Lienert,et al. Methylation-Dependent and -Independent Genomic Targeting Principles of the MBD Protein Family , 2013, Cell.
[37] S. Durand,et al. NMDA Receptor Regulation Prevents Regression of Visual Cortical Function in the Absence of Mecp2 , 2012, Neuron.
[38] E. Kavalali,et al. Synaptic mechanisms underlying rapid antidepressant action of ketamine. , 2012, The American journal of psychiatry.
[39] Rodney C. Samaco,et al. Preclinical research in Rett syndrome: setting the foundation for translational success , 2012, Disease Models & Mechanisms.
[40] D. Katz,et al. Brain Activity Mapping in Mecp2 Mutant Mice Reveals Functional Deficits in Forebrain Circuits, Including Key Nodes in the Default Mode Network, that are Reversed with Ketamine Treatment , 2012, The Journal of Neuroscience.
[41] G. Mandel,et al. Astrocytes conspire with neurons during progression of neurological disease , 2012, Current Opinion in Neurobiology.
[42] A. Bird,et al. Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons , 2012, Stem cells.
[43] S. Nelson,et al. A Critical and Cell-Autonomous Role for MeCP2 in Synaptic Scaling Up , 2012, The Journal of Neuroscience.
[44] A. Bird,et al. Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows. , 2012, Human molecular genetics.
[45] J. Neul. The relationship of Rett syndrome and MECP2 disorders to autism , 2012, Dialogues in clinical neuroscience.
[46] Hye-Seung Lee,et al. Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome , 2012, Journal of pediatric gastroenterology and nutrition.
[47] U. Bonuccelli,et al. IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients , 2012, Autism research and treatment.
[48] M. D'Esposito,et al. Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil , 2012, Genes & Nutrition.
[49] M. Durán,et al. Folinic Acid Supplementation in Rett Syndrome Patients Does Not Influence the Course of the Disease: A Randomized Study , 2012, Journal of child neurology.
[50] C. Wong,et al. Evolution and roles of stanniocalcin , 2012, Molecular and Cellular Endocrinology.
[51] S. Cobb,et al. Rett syndrome: from bed to bench. , 2011, Pediatrics and neonatology.
[52] G. Shepherd,et al. Synaptic microcircuit dysfunction in genetic models of neurodevelopmental disorders: focus on Mecp2 and Met , 2011, Current Opinion in Neurobiology.
[53] Jian Jin,et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons , 2011, Nature.
[54] S. Cobb,et al. MeCP2 and Rett syndrome: reversibility and potential avenues for therapy. , 2011, The Biochemical journal.
[55] M. D'Esposito,et al. F₄-neuroprostanes mediate neurological severity in Rett syndrome. , 2011, Clinica chimica acta; international journal of clinical chemistry.
[56] Rodney C. Samaco,et al. Adult Neural Function Requires MeCP2 , 2011, Science.
[57] G. Valacchi,et al. Oxidative stress in Rett syndrome: Natural history, genotype, and variants , 2011, Redox report : communications in free radical research.
[58] D. Dunkler,et al. Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-Controlled Trial , 2011, Journal of developmental and behavioral pediatrics : JDBP.
[59] S. Ojeda,et al. Preclinical differences of intravascular AAV9 delivery to neurons and glia: a comparative study of adult mice and nonhuman primates. , 2011, Molecular therapy : the journal of the American Society of Gene Therapy.
[60] A. Bird,et al. CpG islands and the regulation of transcription. , 2011, Genes & development.
[61] M. Durán,et al. Clinical and Electroencephalographic Effects of Folinic Acid Treatment in Rett Syndrome Patients , 2011, Journal of child neurology.
[62] M. Giustetto,et al. Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model. , 2011, Human molecular genetics.
[63] P. Huppke,et al. Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model , 2010, Journal of Molecular Medicine.
[64] J. Paton,et al. Correction of respiratory disorders in a mouse model of Rett syndrome , 2010, Proceedings of the National Academy of Sciences.
[65] Lydia Wood,et al. Synaptic circuit abnormalities of motor-frontal layer 2/3 pyramidal neurons in a mutant mouse model of Rett syndrome , 2010, Neurobiology of Disease.
[66] D. Kunze,et al. Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction in Mecp2-Null Mice , 2010, The Journal of Neuroscience.
[67] S. Skinner,et al. Epilepsy and the natural history of Rett syndrome , 2010, Neurology.
[68] Robert S. Illingworth,et al. Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state. , 2010, Molecular cell.
[69] Rodney C. Samaco,et al. Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities , 2009, Proceedings of the National Academy of Sciences.
[70] S. Nelson,et al. Pathophysiology of Locus Ceruleus Neurons in a Mouse Model of Rett Syndrome , 2009, The Journal of Neuroscience.
[71] S. Nelson,et al. Intact Long-Term Potentiation but Reduced Connectivity between Neocortical Layer 5 Pyramidal Neurons in a Mouse Model of Rett Syndrome , 2009, The Journal of Neuroscience.
[72] J. Ramirez,et al. Respiratory Physiology & Neurobiology Breathing Disorders in Rett Syndrome: Progressive Neurochemical Dysfunction in the Respiratory Network after Birth , 2022 .
[73] S. Kudo,et al. Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations , 2009, Neurobiology of Disease.
[74] J. Fyfe,et al. Intravenous administration of self-complementary AAV9 enables transgene delivery to adult motor neurons. , 2009, Molecular therapy : the journal of the American Society of Gene Therapy.
[75] N. Heintz,et al. The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain , 2009, Science.
[76] Christina Thaller,et al. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus , 2009, Human molecular genetics.
[77] W. O'Brien,et al. A Study of the Treatment of Rett Syndrome With Folate and Betaine , 2009, Journal of child neurology.
[78] A. Ormazabal,et al. Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment , 2009, Brain and Development.
[79] Michael E Greenberg,et al. Communication between the synapse and the nucleus in neuronal development, plasticity, and disease. , 2008, Annual review of cell and developmental biology.
[80] L. Ricceri,et al. Mouse models of Rett syndrome: from behavioural phenotyping to preclinical evaluation of new therapeutic approaches , 2008, Behavioural pharmacology.
[81] Stephen T. C. Wong,et al. MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription , 2008, Science.
[82] H. Zoghbi,et al. Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome , 2008, Neurology.
[83] J. H. van der Lee,et al. Efficient ways exist to obtain the optimal sample size in clinical trials in rare diseases. , 2008, Journal of clinical epidemiology.
[84] Liang Zhang,et al. The MeCP2‐null mouse hippocampus displays altered basal inhibitory rhythms and is prone to hyperexcitability , 2008, Hippocampus.
[85] J. Seamans,et al. Losing inhibition with ketamine. , 2008, Nature chemical biology.
[86] Huda Y. Zoghbi,et al. The Story of Rett Syndrome: From Clinic to Neurobiology , 2007, Neuron.
[87] A. Bird,et al. Reversal of Neurological Defects in a Mouse Model of Rett Syndrome , 2007, Science.
[88] Ankita Patel,et al. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males , 2006, Genetics in Medicine.
[89] Carol Bower,et al. Rett syndrome in Australia: a review of the epidemiology. , 2006, The Journal of pediatrics.
[90] J. Gécz,et al. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.
[91] Rudolf Jaenisch,et al. Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[92] K. Hameister,et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome , 2005, Journal of Medical Genetics.
[93] R. Jaenisch,et al. Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice. , 2004, Proceedings of the National Academy of Sciences of the United States of America.
[94] W. Brannath,et al. The advantages and disadvantages of adaptive designs for clinical trials. , 2004, Drug discovery today.
[95] M. Johnston,et al. Neurobiology of Rett Syndrome , 2003, Journal of child neurology.
[96] T. W. Bailey,et al. Ketamine Differentially Blocks Sensory Afferent Synaptic Transmission in Medial Nucleus Tractus Solitarius (mNTS) , 2003, Anesthesiology.
[97] J. Christodoulou,et al. Medium-term open label trial of L-carnitine in Rett syndrome , 2001, Brain and Development.
[98] E. Monrós,et al. Rett syndrome in Spain: mutation analysis and clinical correlations , 2001, Brain and Development.
[99] E. Ballestar,et al. Effects of Rett syndrome mutations of the methyl-CpG binding domain of the transcriptional repressor MeCP2 on selectivity for association with methylated DNA. , 2000, Biochemistry.
[100] H. Zoghbi,et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.
[101] M. Johnston,et al. Development of amino acid receptors in frontal cortex from girls with Rett syndrome , 1999, Annals of neurology.
[102] J. Christodoulou,et al. Rett Syndrome: Randomized Controlled Trial of L-Carnitine , 1999, Journal of child neurology.
[103] Colin A. Johnson,et al. Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complex , 1998, Nature.
[104] A. Bird,et al. MeCP2 Is a Transcriptional Repressor with Abundant Binding Sites in Genomic Chromatin , 1997, Cell.
[105] J. Frost,et al. Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone , 1994, Annals of neurology.
[106] A. Bird,et al. Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. , 1993, Nucleic acids research.
[107] A. Bird,et al. Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA , 1992, Cell.
[108] H. Moser,et al. Altered neurochemical markers in Rett's syndrome , 1991, Neurology.
[109] M. Zappella. A double blind trial of bromocriptine in the Rett syndrome , 1990, Brain and Development.
[110] A Rett,et al. [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. , 1966, Wiener medizinische Wochenschrift.
[111] H. Hundley,et al. To edit or not to edit: regulation of ADAR editing specificity and efficiency , 2016, Wiley interdisciplinary reviews. RNA.
[112] S. Cobb,et al. Improved survival and reduced phenotypic severity following AAV9/MECP2 gene transfer to neonatal and juvenile male Mecp2 knockout mice. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.
[113] A. Percy,et al. Recent Progress in Rett Syndrome and MeCP2 Dysfunction: Assessment of Potential Treatment Options. , 2013, Future neurology.
[114] Wolfgang Köpcke,et al. Clinical trials and rare diseases. , 2010, Advances in experimental medicine and biology.
[115] K. Foust,et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes , 2009, Nature Biotechnology.
[116] Jan-Fang Cheng,et al. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome , 2005, Nature Genetics.
[117] A. Bird,et al. Oxidative damage to methyl-CpG sequences inhibits the binding of the methyl-CpG binding domain (MBD) of methyl-CpG binding protein 2 (MeCP2). , 2004, Nucleic acids research.
[118] Rachel A. Horowitz-Scherer,et al. Chromatin Compaction by Human MeCP2 ASSEMBLY OF NOVEL SECONDARY CHROMATIN STRUCTURES IN THE ABSENCE OF DNA METHYLATION* , 2003 .
[119] B. Hagberg. Clinical manifestations and stages of Rett syndrome. , 2002, Mental retardation and developmental disabilities research reviews.
[120] D. Armstrong. Neuropathology of Rett syndrome. , 2002, Mental retardation and developmental disabilities research reviews.
[121] P. M. Fitzgerald,et al. Rett syndrome and associated movement disorders , 1990, Movement disorders : official journal of the Movement Disorder Society.
[122] D. Trauner,et al. Therapeutic effects of a ketogenic diet in Rett syndrome. , 1986, American journal of medical genetics. Supplement.