Aspects of speech-language abilities are influenced byMECP2mutation type in girls with Rett syndrome

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

Early identification of autism spectrum disorders

(2013) Lonnie Zwaigenbaum et al.   BEHAVIOURAL BRAIN 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

Breathing challenges in Rett Syndrome: Lessons learned from humans and animal models

(2013) Jan-Marino Ramirez et al.   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

Three different profiles: Early socio-communicative capacities in typical Rett syndrome, the preserved speech variant and normal development

(2013) Peter B. Marschik et al.   Developmental Neurorehabilitation

Clinical variability in early speech-language development in females with Rett syndrome

(2012) SAROJINI BUDDEN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Early speech-language development in females with Rett syndrome: focusing on the preserved speech variant

(2012) PETER B MARSCHIK et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Altered Attainment of Developmental Milestones Influences the Age of Diagnosis of Rett Syndrome

(2011) Stephanie Fehr et al.   JOURNAL OF CHILD NEUROLOGY

Onset Patterns in Autism: Correspondence Between Home Video and Parent Report

(2011) Sally Ozonoff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Genome-Wide Activity-Dependent MeCP2 Phosphorylation Regulates Nervous System Development and Function

(2011) Sonia Cohen et al.   NEURON

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

Assessing early communication behaviours: structure and validity of the Communication and Symbolic Behaviour Scales—Developmental Profile (CSBS-DP) in 12-month-old infants

(2010) Patricia Ann Eadie et al.   INTERNATIONAL JOURNAL OF LANGUAGE & COMMUNICATION DISORDERS

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

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

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

Early Determinants of Fractures in Rett Syndrome

(2008) J. Downs et al.   PEDIATRICS