Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

The role of oxidative stress in Rett syndrome: an overview

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

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

(2012) James J. Dowling et al.   BRAIN

Partial rescue of Rett syndrome by ω-3 polyunsaturated fatty acids (PUFAs) oil

(2012) Claudio De Felice et al.   Genes and Nutrition

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

(2012) Noël C. Derecki et al.   NATURE

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

F4-neuroprostanes mediate neurological severity in Rett syndrome

(2011) Cinzia Signorini et al.   CLINICA CHIMICA ACTA

Increased levels of 4HNE-protein plasma adducts in Rett syndrome

(2011) Alessandra Pecorelli et al.   CLINICAL BIOCHEMISTRY

Hepatic Sirt1 deficiency in mice impairs mTorc2/Akt signaling and results in hyperglycemia, oxidative damage, and insulin resistance

(2011) Rui-Hong Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

Investigation of modifier genes within copy number variations in Rett syndrome

(2011) Rosangela Artuso et al.   JOURNAL OF HUMAN GENETICS

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome

(2011) Claudio De Felice et al.   JOURNAL OF LIPID RESEARCH

Oxidative stress in Rett syndrome: Natural history, genotype, and variants

(2011) Silvia Leoncini et al.   REDOX REPORT

A Circadian Rhythm Orchestrated by Histone Deacetylase 3 Controls Hepatic Lipid Metabolism

(2011) D. Feng et al.   SCIENCE

Rett syndrome: Revised diagnostic criteria and nomenclature

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

Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse

(2010) Nicolas Panayotis et al.   NEUROBIOLOGY OF DISEASE

Correction of respiratory disorders in a mouse model of Rett syndrome

(2010) A. P. L. Abdala et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global Gene Expression Analysis Reveals Differences in Cellular Responses to Hydroxyl- and Superoxide Anion Radical–Induced Oxidative Stress in Caco-2 Cells

(2010) Jacob J. Briedé et al.   TOXICOLOGICAL SCIENCES

White Matter Impairment in Rett Syndrome: Diffusion Tensor Imaging Study with Clinical Correlations

(2009) A. Mahmood et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Systemic oxidative stress in classic Rett syndrome

(2009) Claudio De Felice et al.   FREE RADICAL BIOLOGY AND MEDICINE

Transcriptional responses to oxidative stress: Pathological and toxicological implications

(2009) Qiang Ma   PHARMACOLOGY & THERAPEUTICS

Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)

(2008) A. Renieri et al.   BRAIN & DEVELOPMENT

Liver-specific deletion of histone deacetylase 3 disrupts metabolic transcriptional networks

(2008) Sarah K Knutson et al.   EMBO JOURNAL

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

(2008) A. Bebbington et al.   NEUROLOGY