Clinical and biological progress over 50 years in Rett syndrome

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