List of works - Jeffrey L. Neul

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome

scientific article published on 08 July 2017

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 partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

scientific article

A study of the treatment of Rett syndrome with folate and betaine

scientific article published on 18 February 2009

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

scientific article published on 16 February 2015

Assessment of Caregiver Inventory for Rett Syndrome

scientific article published on 28 January 2017

Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.

scientific article

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

scientific article published on 11 September 2018

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

scientific article published on 01 June 2019

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

scientific article published on 28 June 2013

Brief report: MECP2 mutations in people without Rett syndrome

scientific article published on March 2014

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

scientific article published on 11 January 2016

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

scientific article published on 15 March 2019

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

scientific article published on 19 October 2011

Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study

scientific article published on 30 May 2020

Complexities of Rett Syndrome and MeCP2: Figure 1 ⬇️

scientific article published on June 1, 2011

Consensus guidelines on managing Rett syndrome across the lifespan

scientific article published on 13 September 2020

Cortisol profiles and clinical severity in MECP2 duplication syndrome

scientific article published on 22 July 2020

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

scientific article published on September 2008

Detection of neurophysiological features in female R255X MeCP2 mutation mice

scientific article published on 11 September 2020

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

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

scientific article

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

scientific article published on 27 March 2019

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

scientific article

Embryonic hindbrain patterning genes delineate distinct cardio-respiratory and metabolic homeostatic populations in the adult

scientific article

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

scientific article published on 12 May 2016

Epilepsy and the natural history of Rett syndrome.

scientific article

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

Erratum: Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

scientific article published in Nature

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

scientific article

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

scientific article

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

scientific article published on 03 May 2019

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

scientific article

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

scientific article published in December 2006

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function

scientific article

Interested in a career as a clinician-scientist?

scientific article published on 01 March 2010

Longitudinal course of epilepsy in Rett syndrome and related disorders

scientific article

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

scientific article

Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia

scientific article published on 30 October 2020

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

scientific article

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

scientific article

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms

scientific article published on 11 December 2017

Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

scientific article

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

scientific article

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

scientific article

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

scientific article published on 25 February 2020

Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis

scientific article published in November 2016

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

scientific article

Multisystem comorbidities in classic Rett syndrome: a scoping review

scientific article published on 22 September 2020

Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes

scientific article

Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas

scientific article published in November 2004

Origin of a Non-Clarke's Column Division of the Dorsal Spinocerebellar Tract and the Role of Caudal Proprioceptive Neurons in Motor Function.

scientific article

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

scientific article

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

scientific article

Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome

scientific article published on 29 May 2020

Phenotypic features in MECP2 duplication syndrome: Effects of age

scientific article published on 10 November 2020

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

scientific article

Profiling scoliosis in Rett syndrome

scientific article

Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

scientific article published on May 2016

Pubertal development in Rett syndrome deviates from typical females

scientific article

Rett syndrome diagnostic criteria: lessons from the Natural History Study

scientific article

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

scientific article

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

scientific article published on December 1, 2010

Rett syndrome: a prototypical neurodevelopmental disorder

scientific article

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

scientific article published on 7 February 2017

Spatially restricted activation of the SAX receptor by SCW modulates DPP/TKV signaling in Drosophila dorsal-ventral patterning.

scientific article published in November 1998

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

scientific article published on 12 March 2008

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.

scientific article published in June 2005

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

scientific article

The Xenopus dorsalizing factor noggin ventralizes Drosophila embryos by preventing DPP from activating its receptor.

scientific article published in August 1996

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

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders

scientific article published on July 2015

Towards a consensus on developmental regression

scientific article published on 20 August 2019

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

scientific article

Unfolding neurodevelopmental disorders: The mystery of developing connections ⬇️

scientific article published on November 2, 2011

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

scientific article published on November 2011

When Rett syndrome is due to genes other than MECP2.

scientific article

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

scientific article

List of works by Jeffrey L. Neul

A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Rett Syndrome

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

A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

A study of the treatment of Rett syndrome with folate and betaine

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

Assessment of Caregiver Inventory for Rett Syndrome

Atoh1 governs the migration of postmitotic neurons that shape respiratory effectiveness at birth and chemoresponsiveness in adulthood.

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

Biliary Tract Disease in Girls and Young Women With Rett Syndrome

Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

Brief report: MECP2 mutations in people without Rett syndrome

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

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

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

Comparison of core features in four Developmental Encephalopathies in the Rett Natural History Study

Complexities of Rett Syndrome and MeCP2: Figure 1 ⬇️

Consensus guidelines on managing Rett syndrome across the lifespan

Cortisol profiles and clinical severity in MECP2 duplication syndrome

Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

Detection of neurophysiological features in female R255X MeCP2 mutation mice

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

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

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

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Embryonic hindbrain patterning genes delineate distinct cardio-respiratory and metabolic homeostatic populations in the adult

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

Epilepsy and the natural history of Rett syndrome.

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

Erratum: Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome

Hand stereotypies: Lessons from the Rett Syndrome Natural History Study

Improving Treatment Trial Outcomes for Rett Syndrome: The Development of Rett-specific Anchors for the Clinical Global Impression Scale

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function

Interested in a career as a clinician-scientist?

Longitudinal course of epilepsy in Rett syndrome and related disorders

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

Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia

Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms

Low bone mineral mass is associated with decreased bone formation and diet in girls with Rett syndrome.

Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disorders

MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings

Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis

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

Multisystem comorbidities in classic Rett syndrome: a scoping review

Mutual antagonism between Sox10 and NFIA regulates diversification of glial lineages and glioma subtypes

Neurologic complications associated with influenza A in children during the 2003-2004 influenza season in Houston, Texas

Origin of a Non-Clarke's Column Division of the Dorsal Spinocerebellar Tract and the Role of Caudal Proprioceptive Neurons in Motor Function.

Overexpression of methyl-CpG binding protein 2 impairs T(H)1 responses

Pathogenesis of lethal cardiac arrhythmias in Mecp2 mutant mice: implication for therapy in Rett syndrome

Pharmacological readthrough of R294X Mecp2 in a novel mouse model of Rett Syndrome

Phenotypic features in MECP2 duplication syndrome: Effects of age

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

Profiling scoliosis in Rett syndrome

Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.

Pubertal development in Rett syndrome deviates from typical females

Rett syndrome diagnostic criteria: lessons from the Natural History Study

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

Rett syndrome: Revised diagnostic criteria and nomenclature ⬇️

Rett syndrome: a prototypical neurodevelopmental disorder

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Spatially restricted activation of the SAX receptor by SCW modulates DPP/TKV signaling in Drosophila dorsal-ventral patterning.

Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.

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

The Xenopus dorsalizing factor noggin ventralizes Drosophila embryos by preventing DPP from activating its receptor.

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

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

Therapeutic Advances in Autism and Other Neurodevelopmental Disorders

Towards a consensus on developmental regression

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

Unfolding neurodevelopmental disorders: The mystery of developing connections ⬇️

Vitamin D deficiency is prevalent in girls and women with Rett syndrome

When Rett syndrome is due to genes other than MECP2.

Wild-type microglia do not reverse pathology in mouse models of Rett syndrome