List of works - Walter E Kaufmann

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders

scientific article

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

scientific article published on 01 November 2020

A dual DTI approach to analyzing white matter in children with dyslexia

scientific article published on 05 April 2009

ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome

scientific article published on 05 November 2019

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome

scientific article

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

scientific article published on 16 February 2015

Anxiety is related to indices of cortical maturation in typically developing children and adolescents

scientific article published on 17 July 2015

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales

scientific article

Assessment of Caregiver Inventory for Rett Syndrome

scientific article published on 28 January 2017

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire

scientific article published on 03 June 2020

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans

scientific article published on 16 February 2012

Asymmetry and gender effect in functionally lateralized cortical regions: a proton MRS imaging study

scientific article published in January 2004

Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey

scientific article published on 24 March 2014

Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation

scientific article published on 01 June 2009

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors

scientific article published in September 2004

Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities

scientific article published in January 2007

Behavioral profiles in Rett syndrome: Data from the natural history study

scientific article published on 11 September 2018

Brain metabolism in Rett syndrome: age, clinical, and genotype correlations

scientific article published on January 2009

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

scientific article published on 11 January 2016

Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome

scientific article

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

scientific article published on 02 June 2011

Changing the perspective on early development of Rett syndrome

scientific article published on 9 February 2013

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

scientific article published on 15 March 2019

Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.

scientific article published in July 2017

Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder ⬇️

scientific article published on September 19, 2011

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

scientific article published on 2 June 2017

Detecting autonomic response to pain in Rett syndrome.

scientific article published on 12 October 2015

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

scientific article published on 21 May 2013

Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.

scientific article published on 27 January 2014

Developmental delay in Rett syndrome: data from the natural history study

scientific article

Diffusion tensor imaging in schizophrenia

scientific article

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

scientific article published on 27 March 2019

Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist

scientific article published in May 2005

Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children

scientific article

Early socio-communicative forms and functions in typical Rett syndrome

scientific article published on 24 July 2013

En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome

scientific article published in December 2014

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

scientific article published on 12 May 2016

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

article

Family income, parental education and brain structure in children and adolescents

scientific article published on 30 March 2015

Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome

scientific article published on 03 August 2020

Gray matter maturation and cognition in children with different APOE ε genotypes

scientific article published on 13 July 2016

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

scientific article published on 03 May 2019

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

scientific article published in August 2005

Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking

scientific article published in February 2002

In vivo quantitative proton MRSI study of brain development from childhood to adolescence

scientific article published on February 2002

Increased Regional Fractional Anisotropy in Highly Screened Attention-Deficit Hyperactivity Disorder (ADHD) ⬇️

scientific article published on May 31, 2011

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

scientific article

Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon

scientific article published on 27 January 2020

Long-term influence of normal variation in neonatal characteristics on human brain development

scientific article

Longitudinal course of epilepsy in Rett syndrome and related disorders

scientific article

Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1

scientific article published on 01 August 2004

Longitudinal hand function in Rett syndrome.

scientific article

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

scientific article

MRI parcellation of the frontal lobe in boys with attention deficit hyperactivity disorder or Tourette syndrome

scientific article published in November 2002

Manual MRI parcellation of the frontal lobe

scientific article published on 25 March 2009

MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution

scientific article

MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form.

scientific article published in October 2003

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

scientific article published on 25 February 2020

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

scientific article

Multimodal imaging of the self-regulating developing brain

scientific article

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

scientific article published on 25 April 2015

Neuroanatomic correlates of autism and stereotypy in children with Down syndrome

scientific article published in April 2008

Neuroanatomical Assessment of Biological Maturity ⬇️

scientific article published on August 16, 2012

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

scientific article published on 10 September 2016

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

scientific article published on 18 September 2016

Peculiarities in the gestural repertoire: an early marker for Rett syndrome?

scientific article

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

scientific article

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome ⬇️

scientific article published on June 13, 2012

Pubertal development in Rett syndrome deviates from typical females

scientific article

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

scientific article published on December 1, 2010

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

scientific article

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

scientific article published on 7 February 2017

Severity Assessment in CDKL5 Deficiency Disorder

scientific article published on 27 March 2019

Smaller prefrontal and premotor volumes in boys with attention-deficit/hyperactivity disorder

scientific article published in October 2002

Social behavior profile in young males with fragile X syndrome: characteristics and specificity

scientific article published in April 2004

Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study

scientific article published in July 2003

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.

scientific article published in February 2010

Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2‐Null Mice ⬇️

scientific article published on September 8, 2011

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

scientific article

The NIH Toolbox Cognition Battery: results from a large normative developmental sample (PING).

scientific article

The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository

scientific article

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2

scientific article published on 07 December 2018

The course of awake breathing disturbances across the lifespan in Rett syndrome

scientific article published on 12 April 2018

The diagnosis of autism in a female: could it be Rett syndrome?

scientific article published on 8 August 2007

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

scientific article published on 2 October 2013

Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder

scientific article published on 01 February 2019

Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review

scientific article published on 21 June 2019

Treatment of cardiac arrhythmias in a mouse model of Rett syndrome with Na+-channel-blocking antiepileptic drugs.

scientific article

Visual evoked potentials detect cortical processing deficits in Rett syndrome

scientific article published on 2 September 2015

White matter microstructural differences linked to left perisylvian language network in children with dyslexia

scientific article

αB-crystallin negative astrocytic inclusions

scientific article published on April 2011

List of works by Walter E Kaufmann

A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders

A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials

A dual DTI approach to analyzing white matter in children with dyslexia

ANAVEX®2-73 (blarcamesine), a Sigma-1 receptor agonist, ameliorates neurologic impairments in a mouse model of Rett syndrome

Adapting the Mullen Scales of Early Learning for a Standardized Measure of Development in Children With Rett Syndrome

Age of diagnosis in Rett syndrome: patterns of recognition among diagnosticians and risk factors for late diagnosis

Anxiety is related to indices of cortical maturation in typically developing children and adolescents

Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales

Assessment of Caregiver Inventory for Rett Syndrome

Assessment of a Clinical Trial Metric for Rett Syndrome: Critical Analysis of the Rett Syndrome Behaviour Questionnaire

Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans

Asymmetry and gender effect in functionally lateralized cortical regions: a proton MRS imaging study

Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey

Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation

Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors

Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities

Behavioral profiles in Rett syndrome: Data from the natural history study

Brain metabolism in Rett syndrome: age, clinical, and genotype correlations

Caretaker Quality of Life in Rett Syndrome: Disorder Features and Psychological Predictors

Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome

Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

Changing the perspective on early development of Rett syndrome

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome

Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine.

Comprehensive examination of frontal regions in boys and girls with attention-deficit/hyperactivity disorder ⬇️

Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective

Detecting autonomic response to pain in Rett syndrome.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Development of socio-communicative skills in 9- to 12-month-old individuals with fragile X syndrome.

Developmental delay in Rett syndrome: data from the natural history study

Diffusion tensor imaging in schizophrenia

Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome

Down syndrome and comorbid autism-spectrum disorder: characterization using the aberrant behavior checklist

Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children

Early socio-communicative forms and functions in typical Rett syndrome

En route to disentangle the impact and neurobiological substrates of early vocalizations: learning from Rett syndrome

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.

Erratum to “Detection of rarely identified multiple mutations inMECP2gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638-1646

Family income, parental education and brain structure in children and adolescents

Functional Network Mapping Reveals State-Dependent Response to IGF1 Treatment in Rett Syndrome

Gray matter maturation and cognition in children with different APOE ε genotypes

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation

Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal tracking

In vivo quantitative proton MRSI study of brain development from childhood to adolescence

Increased Regional Fractional Anisotropy in Highly Screened Attention-Deficit Hyperactivity Disorder (ADHD) ⬇️

Level of purposeful hand function as a marker of clinical severity in Rett syndrome

Long QT interval in Rett syndrome: expanding the knowledge of a poorly understood phenomenon

Long-term influence of normal variation in neonatal characteristics on human brain development

Longitudinal course of epilepsy in Rett syndrome and related disorders

Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1

Longitudinal hand function in Rett syndrome.

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome

MRI parcellation of the frontal lobe in boys with attention deficit hyperactivity disorder or Tourette syndrome

Manual MRI parcellation of the frontal lobe

MeCP2 expression and function during brain development: implications for Rett syndrome's pathogenesis and clinical evolution

MeCP2 expression in human cerebral cortex and lymphoid cells: immunochemical characterization of a novel higher-molecular-weight form.

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Multimodal imaging of the self-regulating developing brain

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

Neuroanatomic correlates of autism and stereotypy in children with Down syndrome

Neuroanatomical Assessment of Biological Maturity ⬇️

Neurobiologically-based treatments in Rett syndrome: opportunities and challenges

Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.

Peculiarities in the gestural repertoire: an early marker for Rett syndrome?

Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.

Profiling early socio-communicative development in five young girls with the preserved speech variant of Rett syndrome ⬇️

Pubertal development in Rett syndrome deviates from typical females

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Severity Assessment in CDKL5 Deficiency Disorder

Smaller prefrontal and premotor volumes in boys with attention-deficit/hyperactivity disorder

Social behavior profile in young males with fragile X syndrome: characteristics and specificity

Specificity of cerebellar vermian abnormalities in autism: a quantitative magnetic resonance imaging study

Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database.

Temporal and Regional Alterations in NMDA Receptor Expression in Mecp2‐Null Mice ⬇️

The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.