Rett Syndrome: Reaching for Clinical Trials

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

(2015) Meagan R. Pitcher et al.   HUMAN MOLECULAR GENETICS

Effect of Sarizotan, a 5-HT1aand D2-Like Receptor Agonist, on Respiration in Three Mouse Models of Rett Syndrome

(2014) Ana P. Abdala et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

A BDNF loop-domain mimetic acutely reverses spontaneous apneas and respiratory abnormalities during behavioral arousal in a mouse model of Rett syndrome

(2014) M. Kron et al.   Disease Models & Mechanisms

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

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

(2014) Jorge Castro 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

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function

(2013) Meagan R. Pitcher et al.   HUMAN MOLECULAR GENETICS

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

BDNF deregulation in Rett syndrome

(2013) Wei Li et al.   NEUROPHARMACOLOGY

The role of oxidative stress in Rett syndrome: an overview

(2012) Claudio De Felice et al.   Annals of the New York Academy of Sciences

Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in theCDKL5gene

(2012) EVELINE E O HAGEBEUK et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Preclinical research in Rett syndrome: setting the foundation for translational success

(2012) D. M. Katz et al.   Disease Models & Mechanisms

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) M. Kron et al.   JOURNAL OF NEUROSCIENCE

A TrkB Small Molecule Partial Agonist Rescues TrkB Phosphorylation Deficits and Improves Respiratory Function in a Mouse Model of Rett Syndrome

(2012) D. A. Schmid et al.   JOURNAL OF NEUROSCIENCE

Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

(2012) Kathleen J. Motil et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

Neurotrophin regulation of neural circuit development and function

(2012) Hyungju Park et al.   NATURE REVIEWS NEUROSCIENCE

Growth failure and outcome in Rett syndrome: Specific growth references

(2012) D. C. Tarquinio et al.   NEUROLOGY

NMDA Receptor Regulation Prevents Regression of Visual Cortical Function in the Absence of Mecp2

(2012) Severine Durand et al.   NEURON

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

(2012) Giorgio Pini et al.   NEUROPEDIATRICS

Insulin-like growth factor 1 (IGF1) and its active peptide (1–3)IGF1 enhance the expression of synaptic markers in neuronal circuits through different cellular mechanisms

(2012) Aiden P. Corvin et al.   NEUROSCIENCE LETTERS

Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome

(2012) R. Deogracias et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2-Null Mice

(2011) Mary E. Blue et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Rett Syndrome

(2011) Alan K. Percy   ARCHIVES OF NEUROLOGY

MeCP2 and Rett syndrome: reversibility and potential avenues for therapy

(2011) Kamal K.E. Gadalla et al.   BIOCHEMICAL JOURNAL

Clinical severity and quality of life in children and adolescents with Rett syndrome

(2011) J. B. Lane et al.   NEUROLOGY

Rett syndrome: Revised diagnostic criteria and nomenclature

(2010) Jeffrey L. Neul et al.   ANNALS OF NEUROLOGY

Rett syndrome diagnostic criteria: Lessons from the Natural History Study

(2010) Alan K. Percy et al.   ANNALS OF NEUROLOGY

Reversibility of functional deficits in experimental models of Rett syndrome

(2010) Stuart Cobb et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2010) Maria C.N. Marchetto et al.   CELL

Small molecule BDNF mimetics activate TrkB signaling and prevent neuronal degeneration in rodents

(2010) Stephen M. Massa et al.   JOURNAL OF CLINICAL INVESTIGATION

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

MeCP2 Is Required for Normal Development of GABAergic Circuits in the Thalamus

(2010) Zhong-Wei Zhang et al.   JOURNAL OF NEUROPHYSIOLOGY

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

Diminished prevalence but preserved synaptic distribution of N-methyl-d-aspartate receptor subunits in the methyl CpG binding protein 2(MeCP2)-null mouse brain

(2010) E. Maliszewska-Cyna et al.   NEUROSCIENCE

Profiling Scoliosis in Rett Syndrome

(2010) Alan K Percy et al.   PEDIATRIC RESEARCH

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

(2010) Rose White et al.   Twin Research and Human Genetics

Variable phenotypic expression of a MECP2 mutation in a family

(2009) Kimberly Augenstein et al.   Journal of Neurodevelopmental Disorders

Gastrostomy Placement Improves Height and Weight Gain in Girls With Rett Syndrome

(2009) Kathleen J Motil et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

The neurobiological properties of tianeptine (Stablon): from monoamine hypothesis to glutamatergic modulation

(2009) B S McEwen et al.   MOLECULAR PSYCHIATRY

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

(2009) Jennifer L. Larimore et al.   NEUROBIOLOGY OF DISEASE

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

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse

(2008) Jean-Christophe Roux et al.   NEUROSCIENCE LETTERS

Oral treatment with desipramine improves breathing and life span in Rett syndrome mouse model

(2007) Sébastien Zanella et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY