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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

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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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Experimental models of Rett syndrome based on Mecp2 dysfunction

Experimental Biology and Medicine, 2011-01, Vol.236 (1), p.3-19

2011

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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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Progress in Rett Syndrome: from discovery to clinical trials

Wiener medizinische Wochenschrift, 2016-09, Vol.166 (11-12), p.325-332

Percy, Alan K.

2016

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

Journal of medical genetics, 2014-03, Vol.51 (3), p.152-158

2014

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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

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Longitudinal course of epilepsy in Rett syndrome and related disorders

Brain (London, England : 1878), 2017-02, Vol.140 (2), p.306-318

2017

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Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)

Journal of autism and developmental disorders, 2024-03

2024

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Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

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

2017

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Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

Neurobiology of disease, 2009-08, Vol.35 (2), p.219-233

2009

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Path to Treat Rett Syndrome

Science (American Association for the Advancement of Science), 2013-10, Vol.342 (6156), p.318-320

Percy, Alan K.

2013

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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)

Multisite Study of Evoked Potentials in Rett Syndrome

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

2021

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

Journal of child neurology, 2015-11, Vol.30 (13), p.1743-1748

2015

Volltextzugriff (PDF)

Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing

American journal of medical genetics. Part A, 2024-05, p.e63725

2024

Volltextzugriff (PDF)

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2019-01, Vol.180 (1), p.55-67

2019

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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

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Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

Neurobiology of disease, 2009-05, Vol.34 (2), p.199-211

2009

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Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders

Annals of neurology, 2024-07, Vol.96 (1), p.175-186

2024

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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

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

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The American History of Rett Syndrome

Pediatric neurology, 2014-01, Vol.50 (1), p.1-3

Percy, Alan, MD

2014

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

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

Rett syndrome: Revised diagnostic criteria and nomenclature

Experimental models of Rett syndrome based on Mecp2 dysfunction

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

Progress in Rett Syndrome: from discovery to clinical trials

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

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

Longitudinal course of epilepsy in Rett syndrome and related disorders

Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)

Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors

Dendritic spine pathologies in hippocampal pyramidal neurons from Rett syndrome brain and after expression of Rett-associated MECP2 mutations

Path to Treat Rett Syndrome

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

Multisite Study of Evoked Potentials in Rett Syndrome

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

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

Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing

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

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

Bdnf overexpression in hippocampal neurons prevents dendritic atrophy caused by Rett-associated MECP2 mutations

Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders

Comparison of evoked potentials across four related developmental encephalopathies

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

The American History of Rett Syndrome

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