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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

Nature medicine, 2023-06, Vol.29 (6), p.1468-1475

2023

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Rett syndrome: Revised diagnostic criteria and nomenclature

Annals of neurology, 2010-12, Vol.68 (6), p.944-950

2010

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

Pediatric neurology, 2017-11, Vol.76, p.37-46

2017

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

Neurology, 2019-04, Vol.92 (16), p.e1912

2019

Volltextzugriff (PDF)

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

Nature neuroscience, 2014-10, Vol.17 (10), p.1322-1329

2014

Volltextzugriff (PDF)

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

Human molecular genetics, 2013-01, Vol.22 (1), p.96-109

2013

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Behavioral and brain anatomical analysis of Foxg1 heterozygous mice

PloS one, 2022-10, Vol.17 (10), p.e0266861

2022

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Detection of neurophysiological features in female R255X MeCP2 mutation mice

Neurobiology of disease, 2020-11, Vol.145, p.105083-105083, Article 105083

2020

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Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research

The Journal of clinical investigation, 2024-03, Vol.134 (5), p.1-4

Neul, Jeffrey L

2024

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

Brain & development (Tokyo. 1979), 2019-02, Vol.41 (2), p.123-134

2019

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

Proceedings of the National Academy of Sciences - PNAS, 2009-12, Vol.106 (51), p.21966-21971

2009

Volltextzugriff (PDF)

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

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.515-529

2018

Volltextzugriff (PDF)

A clinical-translational review of sleep problems in neurodevelopmental disabilities

Journal of neurodevelopmental disorders, 2024-07, Vol.16 (1), p.41-13, Article 41

2024

Volltextzugriff (PDF)

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Pediatric neurology, 2017-05, Vol.70, p.20-25

2017

Volltextzugriff (PDF)

Multisite Study of Evoked Potentials in Rett Syndrome

Annals of neurology, 2021-04, Vol.89 (4), p.790-802

2021

Volltextzugriff (PDF)

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

eLife, 2016-06, Vol.5

2016

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

Clinical genetics, 2019-05, Vol.95 (5), p.575-581

2019

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

Pediatric neurology, 2015-11, Vol.53 (5), p.402-411

2015

Volltextzugriff (PDF)

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

Human molecular genetics, 2016-08, Vol.25 (15), p.3284-3302

2016

Volltextzugriff (PDF)

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

Disease models & mechanisms, 2012-11, Vol.5 (6), p.733-745

2012

Volltextzugriff (PDF)

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.296-14, Article 296

2024

Volltextzugriff (PDF)

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database

Journal of neurodevelopmental disorders, 2024-07, Vol.16 (1), p.42-12, Article 42

2024

Volltextzugriff (PDF)

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome

Journal of neurodevelopmental disorders, 2021-01, Vol.13 (1), p.3-13, Article 3

2021

Volltextzugriff (PDF)

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

The Journal of neuroscience, 2016-05, Vol.36 (20), p.5572-5586

2016

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Comparison of evoked potentials across four related developmental encephalopathies

Journal of neurodevelopmental disorders, 2023-03, Vol.15 (1), p.10-10, Article 10

2023

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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study

Rett syndrome: Revised diagnostic criteria and nomenclature

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

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

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

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

Behavioral and brain anatomical analysis of Foxg1 heterozygous mice

Detection of neurophysiological features in female R255X MeCP2 mutation mice

Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research

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

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

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

A clinical-translational review of sleep problems in neurodevelopmental disabilities

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Multisite Study of Evoked Potentials in Rett Syndrome

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

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

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

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

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

Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey

Characterizing the journey of Rett syndrome among females in the United States: a real-world evidence study using the Rett syndrome natural history study database

Development of an adapted Clinical Global Impression scale for use in Angelman syndrome

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

Comparison of evoked potentials across four related developmental encephalopathies

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