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Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome

Pediatric neurology, 2014-04, Vol.50 (4), p.297-302

Berry-Kravis, Elizabeth, MD, PhD

2014

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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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Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

PloS one, 2019-01, Vol.14 (1), p.e0209984

2019

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Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death

Movement disorders, 2020-08, Vol.35 (8), p.1448-1456

2020

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Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort

Movement disorders, 2021-10, Vol.36 (10), p.2378-2386

2021

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The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome

American journal of medical genetics. Part A, 2022-03, Vol.188 (3), p.858-866

2022

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The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities

Journal of applied research in intellectual disabilities, 2023-03, Vol.36 (2), p.394-404

2023

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Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1029-1039

2022

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Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome

Psychoneuroendocrinology, 2021-07, Vol.129, p.105266-105266, Article 105266

2021

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Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

Neurotherapeutics, 2015-07, Vol.12 (3), p.584-608

2015

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Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment

Journal of autism and developmental disorders, 2012-07, Vol.42 (7), p.1377-1392

2012

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Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

Neuropsychopharmacology (New York, N.Y.), 2012-01, Vol.37 (1), p.178-195

2012

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Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Movement disorders, 2007-10, Vol.22 (14), p.2018-2030

2007

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Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection

Pediatric anesthesia, 2020-07, Vol.30 (7), p.766-772

2020

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Cholesterol levels in Fragile X syndrome

American journal of medical genetics. Part A, 2015-02, Vol.167A (2), p.379-384

2015

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Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.503-506

2019

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Mutation update for the SATB2 gene

Human mutation, 2019-08, Vol.40 (8), p.1013-1029, Article humu.23771

2019

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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

American journal of medical genetics. Part A, 2013-04, Vol.161A (4), p.771-778

2013

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Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

American journal of medical genetics, 2003-12, Vol.123A (3), p.267-278

2003

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Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Autism research, 2020-08, Vol.13 (8), p.1383-1396

2020

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Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Pediatric pulmonology, 2009-06, Vol.44 (6), p.521-535

2009

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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Pediatric pulmonology, 2008-01, Vol.43 (1), p.77-86

2008

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Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

Nature reviews. Drug discovery, 2018-04, Vol.17 (4), p.280-299

2018

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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2007-06, Vol.144B (4), p.566-569

2007

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Sudden Infant Death Syndrome: Review of implicated genetic factors

American journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.771-788

2007

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Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome

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

Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome

Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death

Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community‐Based Cohort

The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome

The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities

Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort

Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome

Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back

Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment

Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond

Fragile X-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection

Cholesterol levels in Fragile X syndrome

Congenital central hypoventilation syndrome: Severe disease caused by co‐occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Mutation update for the SATB2 gene

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles

Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Congenital central hypoventilation syndrome from past to future: Model for translational and transitional autonomic medicine

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death

Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)

Sudden Infant Death Syndrome: Review of implicated genetic factors

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