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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

2023

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NKCC1 transporter facilitates seizures in the developing brain

Nature medicine, 2005-11, Vol.11 (11), p.1205-1213

2005

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Expression of hyperpolarization-activated current ( I h ) in zonally defined vestibular calyx terminals of the crista

Journal of neurophysiology, 2023-06, Vol.129 (6), p.1468-1481

2023

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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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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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Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.108-108, Article 108

2022

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Direct reprogramming of human fibroblasts into dopaminergic neuron-like cells

Cell research, 2012-02, Vol.22 (2), p.321-332

2012

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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)

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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Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

Human molecular genetics, 2023-09, Vol.32 (19), p.2857-2871

2023

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The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome

Neuropharmacology, 2022-12, Vol.220, p.109271-109271, Article 109271

2022

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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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Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome

Contemporary clinical trials, 2022-03, Vol.114, p.106704-106704, Article 106704

2022

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Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure

Developmental medicine and child neurology, 2021-11, Vol.63 (11), p.1308-1315

2021

Volltextzugriff (PDF)

CDKL5 deficiency disorder and other infantile‐onset genetic epilepsies

Developmental medicine and child neurology, 2024-04, Vol.66 (4), p.456-468

2024

Volltextzugriff (PDF)

Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome

Pediatric neurology, 2024-03, Vol.152, p.63-72

2024

Volltextzugriff (PDF)

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Journal of neurodevelopmental disorders, 2023-10, Vol.15 (1), p.33-33, Article 33

2023

Volltextzugriff (PDF)

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

Journal of neurodevelopmental disorders, 2021-12, Vol.13 (1), p.40-40, Article 40

2021

Volltextzugriff (PDF)

Clinical and functional consequences of GRIA variants in patients with neurological diseases

Cellular and molecular life sciences : CMLS, 2023-11, Vol.80 (11), p.345-345, Article 345

2023

Volltextzugriff (PDF)

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.153, Article 153

2024

Volltextzugriff (PDF)

AMPA receptor-mediated rapid EPSCs in vestibular calyx afferents

Journal of neurophysiology, 2017-06, Vol.117 (6), p.2312-2323

2017

Volltextzugriff (PDF)

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

American journal on intellectual and developmental disabilities, 2020-11, Vol.125 (6), p.493-509

2020

Volltextzugriff (PDF)

Recommendations for managing diarrhea from trofinetide use in individuals with Rett syndrome: a plain language summary

Future Rare Diseases, 2023-07, Vol.3 (3)

2023

Volltextzugriff (PDF)

A single episode of neonatal seizures permanently alters glutamatergic synapses

Annals of neurology, 2007-05, Vol.61 (5), p.411-426

2007

Volltextzugriff (PDF)

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

NKCC1 transporter facilitates seizures in the developing brain

Expression of hyperpolarization-activated current ( I h ) in zonally defined vestibular calyx terminals of the crista

Multisite Study of Evoked Potentials in Rett Syndrome

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

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

Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome

Direct reprogramming of human fibroblasts into dopaminergic neuron-like cells

Comparison of evoked potentials across four related developmental encephalopathies

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

Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function

The CaV1.2 G406R mutation decreases synaptic inhibition and alters L-type Ca2+ channel-dependent LTP at hippocampal synapses in a mouse model of Timothy Syndrome

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

Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure

CDKL5 deficiency disorder and other infantile‐onset genetic epilepsies

Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome

Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

Clinical and functional consequences of GRIA variants in patients with neurological diseases

De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor

AMPA receptor-mediated rapid EPSCs in vestibular calyx afferents

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

Recommendations for managing diarrhea from trofinetide use in individuals with Rett syndrome: a plain language summary

A single episode of neonatal seizures permanently alters glutamatergic synapses

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