标题
Clinical and biological progress over 50 years in Rett syndrome
作者
关键词
-
出版物
Nature Reviews Neurology
Volume 13, Issue 1, Pages 37-51
出版商
Springer Nature
发表日期
2016-12-09
DOI
10.1038/nrneurol.2016.186
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Determinants of sleep disturbances in Rett syndrome: Novel findings in relation to genotype
- (2016) Sharolin Boban et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- How can clinical ethics guide the management of comorbidities in the child with Rett syndrome?
- (2016) Jenny Downs et al. JOURNAL OF PAEDIATRICS AND CHILD HEALTH
- Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence
- (2016) Amanda Jefferson et al. PLoS One
- Validating the Rett Syndrome Gross Motor Scale
- (2016) Jenny Downs et al. PLoS One
- The Natural History of Scoliosis in Females With Rett Syndrome
- (2016) Jennepher Downs et al. SPINE
- Rett Syndrome: Crossing the Threshold to Clinical Translation
- (2016) David M. Katz et al. TRENDS IN NEUROSCIENCES
- Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome
- (2016) Kerstin Ure et al. eLife
- Osteoblast function and bone histomorphometry in a murine model of Rett syndrome
- (2015) Mary E. Blue et al. BONE
- Biomechanical properties of bone in a mouse model of Rett syndrome
- (2015) Bushra Kamal et al. BONE
- Longitudinal bone mineral content and density in Rett syndrome and their contributing factors
- (2015) Amanda Jefferson et al. BONE
- Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study
- (2015) Jenny Downs et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Epilepsy in Rett syndrome-Lessons from the Rett networked database
- (2015) Andreea Nissenkorn et al. EPILEPSIA
- A scoping study to explore the cost-effectiveness of next-generation sequencing compared with traditional genetic testing for the diagnosis of learning disabilities in children
- (2015) Sophie Beale et al. HEALTH TECHNOLOGY ASSESSMENT
- Improving Treatment Trial Outcomes for Rett Syndrome
- (2015) Jeffrey L. Neul et al. JOURNAL OF CHILD NEUROLOGY
- Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales
- (2015) Katherine V. Barnes et al. Journal of Neurodevelopmental Disorders
- Perspective: Enforce the clinical guidelines
- (2015) Monique Roobol NATURE
- Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
- (2015) Harrison W. Gabel et al. NATURE
- Rett syndrome: a complex disorder with simple roots
- (2015) Matthew J. Lyst et al. NATURE REVIEWS GENETICS
- Rett Syndrome: Reaching for Clinical Trials
- (2015) Lucas Pozzo-Miller et al. Neurotherapeutics
- The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders
- (2015) Daniel C. Tarquinio et al. PEDIATRIC NEUROLOGY
- MeCP2 Affects Skeletal Muscle Growth and Morphology through Non Cell-Autonomous Mechanisms
- (2015) Valentina Conti et al. PLoS One
- Experience of Gastrostomy Using a Quality Care Framework
- (2015) Jenny Downs et al. MEDICINE
- Aspects of speech-language abilities are influenced byMECP2mutation type in girls with Rett syndrome
- (2014) Anna Urbanowicz et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- MeCP2 Suppresses Nuclear MicroRNA Processing and Dendritic Growth by Regulating the DGCR8/Drosha Complex
- (2014) Tian-Lin Cheng et al. DEVELOPMENTAL CELL
- GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells
- (2014) Gabriella Livide et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons
- (2014) Emily Cunningham Williams et al. HUMAN MOLECULAR GENETICS
- Methyl-CpG-binding protein 2(MECP2) mutation type is associated with disease severity in Rett syndrome
- (2014) Vishnu Anand Cuddapah et al. JOURNAL OF MEDICAL GENETICS
- Loss of MeCP2 From Forebrain Excitatory Neurons Leads to Cortical Hyperexcitation and Seizures
- (2014) W. Zhang et al. JOURNAL OF NEUROSCIENCE
- Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes
- (2014) K. Sugino et al. JOURNAL OF NEUROSCIENCE
- The trajectories of sleep disturbances in Rett syndrome
- (2014) Kingsley Wong et al. JOURNAL OF SLEEP RESEARCH
- Cellular origins of auditory event-related potential deficits in Rett syndrome
- (2014) Darren Goffin et al. NATURE NEUROSCIENCE
- Oxidative brain damage in Mecp2-mutant murine models of Rett syndrome
- (2014) Claudio De Felice et al. NEUROBIOLOGY OF DISEASE
- Twenty years of surveillance in Rett syndrome: what does this tell us?
- (2014) Alison Anderson et al. Orphanet Journal of Rare Diseases
- VPA Alleviates Neurological Deficits and Restores Gene Expression in a Mouse Model of Rett Syndrome
- (2014) Weixiang Guo et al. PLoS One
- Genetic and pharmacological reactivation of the mammalian inactive X chromosome
- (2014) S. Bhatnagar et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome
- (2014) O. S. Khwaja et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Family satisfaction following spinal fusion in Rett syndrome
- (2014) Jenny Downs et al. Developmental Neurorehabilitation
- DNA methylation reader MECP2: cell type- and differentiation stage-specific protein distribution
- (2014) Congdi Song et al. Epigenetics & Chromatin
- Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice
- (2014) Laura Dean Heckman et al. eLife
- An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders
- (2013) Steven Andrew Baker et al. CELL
- Dynamic Readers for 5-(Hydroxy)Methylcytosine and Its Oxidized Derivatives
- (2013) Cornelia G. Spruijt et al. CELL
- Intragenic DNA methylation modulates alternative splicing by recruiting MeCP2 to promote exon recognition
- (2013) Alika K Maunakea et al. CELL RESEARCH
- Early development and regression in Rett syndrome
- (2013) JYL Lee et al. CLINICAL GENETICS
- Resourceful and creative methods are necessary to research rare disorders
- (2013) Helen Leonard et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Using a large international sample to investigate epilepsy in Rett syndrome
- (2013) Xinhua Bao et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Leptin resistance and obesity in mice with deletion of methyl-CpG-binding protein 2 (MeCP2) in hypothalamic pro-opiomelanocortin (POMC) neurons
- (2013) Xiaorui Wang et al. DIABETOLOGIA
- Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p
- (2013) K. Han et al. GENES & DEVELOPMENT
- Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation
- (2013) M. Lang et al. HUMAN MOLECULAR GENETICS
- Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome
- (2013) Dag H. Yasui et al. HUMAN MOLECULAR GENETICS
- Oligodendrocyte Lineage Cells Contribute Unique Features to Rett Syndrome Neuropathology
- (2013) M. V. C. Nguyen et al. JOURNAL OF NEUROSCIENCE
- Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome
- (2013) S. K. Garg et al. JOURNAL OF NEUROSCIENCE
- Assessment and Management of Nutrition and Growth in Rett Syndrome
- (2013) Helen Leonard et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Gastrointestinal Dysmotility in Rett Syndrome
- (2013) Gordon Baikie et al. JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
- Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
- (2013) Matthew J Lyst et al. NATURE NEUROSCIENCE
- Osteoporosis in Rett syndrome: a case study presenting a novel management intervention for severe osteoporosis
- (2013) M. Lotan et al. OSTEOPOROSIS INTERNATIONAL
- The American History of Rett Syndrome
- (2013) Alan Percy PEDIATRIC NEUROLOGY
- Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis
- (2013) Gitte Roende et al. PEDIATRIC RESEARCH
- Vascular Dysfunction in a Mouse Model of Rett Syndrome and Effects of Curcumin Treatment
- (2013) Anna Panighini et al. PLoS One
- Morphological and functional reversal of phenotypes in a mouse model of Rett syndrome
- (2012) Lianne Robinson et al. BRAIN
- MeCP2 Binds to 5hmC Enriched within Active Genes and Accessible Chromatin in the Nervous System
- (2012) Marian Mellén et al. CELL
- The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy
- (2012) Stephanie Fehr et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The phenotype associated with a large deletion on MECP2
- (2012) Ami Bebbington et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Postnatal inactivation reveals enhanced requirement for MeCP2 at distinct age windows
- (2012) Hélène Cheval et al. HUMAN MOLECULAR GENETICS
- Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice
- (2012) Kamal KE Gadalla et al. MOLECULAR THERAPY
- MeCP2: only 100% will do
- (2012) Hsiao-Tuan Chao et al. NATURE NEUROSCIENCE
- Growth failure and outcome in Rett syndrome: Specific growth references
- (2012) D. C. Tarquinio et al. NEUROLOGY
- Rett syndrome treatment in mouse models: Searching for effective targets and strategies
- (2012) Laura Ricceri et al. NEUROPHARMACOLOGY
- Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons
- (2012) Morteza Yazdani et al. STEM CELLS
- The conductive environment enhances gross motor function of girls with Rett syndrome. A pilot study
- (2012) Meir Lotan et al. Developmental Neurorehabilitation
- X-Chromosome Inactivation in Rett Syndrome Human Induced Pluripotent Stem Cells
- (2012) Aaron Y. L. Cheung et al. Frontiers in Psychiatry
- The Role of MeCP2 in the Brain
- (2011) Jacky Guy et al. Annual Review of Cell and Developmental Biology
- Autonomic dysfunction with mutations in the gene that encodes methyl-CpG-binding protein 2: Insights into Rett syndrome
- (2011) Daniel T. Lioy et al. AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL
- MeCP2 and Rett syndrome: reversibility and potential avenues for therapy
- (2011) Kamal K.E. Gadalla et al. BIOCHEMICAL JOURNAL
- Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes
- (2011) Bredford Kerr et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model
- (2011) Sara Ricciardi et al. HUMAN MOLECULAR GENETICS
- DXA measurements in rett syndrome reveal small bones with low bone mass
- (2011) Gitte Roende et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome
- (2011) Stephanie Fehr et al. JOURNAL OF CHILD NEUROLOGY
- Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period
- (2011) Kitty-Rose Foley et al. JOURNAL OF CHILD NEUROLOGY
- MeCP2 Is Critical within HoxB1-Derived Tissues of Mice for Normal Lifespan
- (2011) C. S. Ward et al. JOURNAL OF NEUROSCIENCE
- A role for glia in the progression of Rett’s syndrome
- (2011) Daniel T. Lioy et al. NATURE
- Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory
- (2011) Hongda Li et al. NATURE NEUROSCIENCE
- Clinical criteria for Rett syndrome
- (2011) Sakkubai Naidu et al. Nature Reviews Neurology
- Increased Resting Metabolic Rate in Girls with Rett Syndrome Compared to Girls with Developmental Disabilities
- (2011) P. Platte et al. NEUROPEDIATRICS
- Synaptic plasticity deficits in an experimental model of rett syndrome: long-term potentiation saturation and its pharmacological reversal
- (2011) S.-M. Weng et al. NEUROSCIENCE
- Trends in the Diagnosis of Rett Syndrome in Australia
- (2011) Stephanie Fehr et al. PEDIATRIC RESEARCH
- Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations
- (2011) Manuela Vecsler et al. PLoS One
- Adult Neural Function Requires MeCP2
- (2011) C. M. McGraw et al. SCIENCE
- Pathogenesis of Lethal Cardiac Arrhythmias in Mecp2 Mutant Mice: Implication for Therapy in Rett Syndrome
- (2011) M. D. McCauley et al. Science Translational Medicine
- Atypical presentations and specific genotypes are associated with a delay in diagnosis in females with Rett syndrome
- (2010) Stephanie Fehr et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Rett syndrome: Revised diagnostic criteria and nomenclature
- (2010) Jeffrey L. Neul et al. ANNALS OF NEUROLOGY
- Valproate and risk of fracture in Rett syndrome
- (2010) H. Leonard et al. ARCHIVES OF DISEASE IN CHILDHOOD
- A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells
- (2010) Maria C.N. Marchetto et al. CELL
- Unrecognized Lung Disease in Classic Rett Syndrome
- (2010) Claudio De Felice et al. CHEST
- Sleep dysfunction in Rett syndrome: a trial of exogenous melatonin treatment
- (2010) Angela J McArthur et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome Database
- (2010) MICHAEL FREILINGER et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Level of purposeful hand function as a marker of clinical severity in Rett syndrome
- (2010) JENNY DOWNS et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
- (2010) Cornelia Brendel et al. JOURNAL OF MOLECULAR MEDICINE-JMM
- Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State
- (2010) Peter J. Skene et al. MOLECULAR CELL
- Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
- (2010) Hsiao-Tuan Chao et al. NATURE
- Epilepsy and the natural history of Rett syndrome
- (2010) D. G. Glaze et al. NEUROLOGY
- Profiling Scoliosis in Rett Syndrome
- (2010) Alan K Percy et al. PEDIATRIC RESEARCH
- Patients With Rett Syndrome Sustain Low-Energy Fractures
- (2010) Gitte Roende et al. PEDIATRIC RESEARCH
- Bone Mineral Content and Density in Rett Syndrome and Their Contributing Factors
- (2010) Amanda L Jefferson et al. PEDIATRIC RESEARCH
- Mecp2 deficiency decreases bone formation and reduces bone volume in a rodent model of Rett syndrome
- (2009) R.D. O'Connor et al. BONE
- Updating the profile of C-terminal MECP2 deletions in Rett syndrome
- (2009) A. Bebbington et al. JOURNAL OF MEDICAL GENETICS
- Longevity in Rett Syndrome: Analysis of the North American Database
- (2009) Russell S. Kirby et al. JOURNAL OF PEDIATRICS
- Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
- (2009) Nurit Ballas et al. NATURE NEUROSCIENCE
- The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome
- (2009) B. B. Zeev et al. NEUROLOGY
- Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
- (2009) R. C. Samaco et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function
- (2009) J. Tao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Nuclear DNA Base 5-Hydroxymethylcytosine Is Present in Purkinje Neurons and the Brain
- (2009) S. Kriaucionis et al. SCIENCE
- Guidelines for Management of Scoliosis in Rett Syndrome Patients Based on Expert Consensus and Clinical Evidence
- (2009) Jenny Downs et al. SPINE
- FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome
- (2008) Francesca Ariani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Environmental enrichment ameliorates a motor coordination deficit in a mouse model of Rett syndromeMecp2gene dosage effects and BDNF expression
- (2008) Mari Kondo et al. EUROPEAN JOURNAL OF NEUROSCIENCE
- Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
- (2008) J. L. Neul et al. NEUROLOGY
- Investigating genotype-phenotype relationships in Rett syndrome using an international data set
- (2008) A. Bebbington et al. NEUROLOGY
- Deletion of Mecp2 in Sim1-Expressing Neurons Reveals a Critical Role for MeCP2 in Feeding Behavior, Aggression, and the Response to Stress
- (2008) Sharyl L. Fyffe et al. NEURON
- Autonomic dysregulation in young girls with Rett Syndrome during nighttime in-home recordings
- (2008) Debra E. Weese-Mayer et al. PEDIATRIC PULMONOLOGY
- Bone Mineral Content and Bone Mineral Density Are Lower in Older Than in Younger Females With Rett Syndrome
- (2008) Kathleen J Motil et al. PEDIATRIC RESEARCH
- Early Determinants of Fractures in Rett Syndrome
- (2008) J. Downs et al. PEDIATRICS
- MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
- (2008) M. Chahrour et al. SCIENCE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now