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Berry-Kravis, Elizabeth

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full name	Elizabeth Berry-Kravis
label	Berry-Kravis, Elizabeth
last name	Berry-Kravis

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Item Type	Name
Academic Article	Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
Academic Article	The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment.
Academic Article	The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period.
Academic Article	Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease.
Academic Article	Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people.
Academic Article	Fragile X gene expansions are not associated with dementia.
Academic Article	Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
Academic Article	Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease.
Academic Article	The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons.
Academic Article	Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status.
Academic Article	Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines.
Academic Article	Erratum: Emerging topics in FXTAS.
Academic Article	Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system.
Academic Article	Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
Academic Article	Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.
Academic Article	Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
Academic Article	Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS).
Academic Article	Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.
Academic Article	Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders.
Academic Article	Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
Academic Article	FMR1 gray-zone alleles: association with Parkinson's disease in women?
Academic Article	Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
Academic Article	Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series.
Academic Article	Emerging topics in FXTAS.
Academic Article	Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?
Academic Article	New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Academic Article	X-inactivation in the clinical phenotype of fragile X premutation carrier sisters.
Academic Article	FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
Academic Article	Neuropathic features in fragile X premutation carriers.
Academic Article	Progression of tremor and ataxia in male carriers of the FMR1 premutation.
Academic Article	Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
Academic Article	New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
Academic Article	Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
Academic Article	Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers.
Academic Article	Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis.
Academic Article	Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.
Academic Article	Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development.
Academic Article	Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation.
Academic Article	Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy.
Academic Article	Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
Academic Article	Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
Academic Article	Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial.
Academic Article	Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
Academic Article	Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Academic Article	Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
Academic Article	Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome.
Academic Article	Cholesterol levels in fragile X syndrome.
Academic Article	Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Academic Article	Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study.
Academic Article	Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene.
Academic Article	Tremor and ataxia in fragile X premutation carriers: blinded videotape study.
Academic Article	The apolipoprotein E epsilon 2 allele and decline in episodic memory.
Academic Article	A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings.
Academic Article	Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
Academic Article	Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Academic Article	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Academic Article	Fragile X syndrome.
Academic Article	Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results.
Academic Article	Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study.
Academic Article	Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment.
Academic Article	FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
Academic Article	The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary.
Academic Article	Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
Academic Article	Updated report on tools to measure outcomes of clinical trials in fragile X syndrome.
Academic Article	Fragile X targeted pharmacotherapy: lessons learned and future directions.
Academic Article	Arbaclofen in fragile X syndrome: results of phase 3 trials.
Academic Article	Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
Academic Article	A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome.
Academic Article	Developmental profiles of infants with an FMR1 premutation.
Academic Article	Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.
Academic Article	Importance of a specialty clinic for individuals with fragile X syndrome.
Academic Article	Clinicians' experiences with the fragile X clinical and research consortium.
Academic Article	The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions.
Academic Article	Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Academic Article	Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study.
Academic Article	Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials.
Academic Article	Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes.
Academic Article	Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
Academic Article	Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Academic Article	Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
Academic Article	Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
Academic Article	White matter disease and cognitive impairment in FMR1 premutation carriers.
Academic Article	Distribution of AGG interruption patterns within nine world populations.
Academic Article	Fragile X syndrome: a review of associated medical problems.
Academic Article	Autism and fragile X syndrome.
Academic Article	AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Academic Article	Associated features in females with an FMR1 premutation.
Academic Article	Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome.
Academic Article	Climbing the branches of a family tree: diagnosis of fragile X syndrome.
Academic Article	Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.
Academic Article	Improving IQ measurement in intellectual disabilities using true deviation from population norms.
Academic Article	Development of mavoglurant and its potential for the treatment of fragile X syndrome.
Academic Article	The challenges of clinical trials in fragile X syndrome.
Academic Article	Outcome measures for clinical trials in fragile X syndrome.
Academic Article	Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome.
Academic Article	Developing BACE-1 inhibitors for FXS.
Academic Article	Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Academic Article	Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.
Academic Article	CDKL5 and ARX mutations in males with early-onset epilepsy.
Academic Article	Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Academic Article	MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
Academic Article	FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
Academic Article	Newborn, carrier, and early childhood screening recommendations for fragile X.
Academic Article	A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Academic Article	Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.
Academic Article	Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS).
Academic Article	Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome.
Academic Article	Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?
Academic Article	Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Academic Article	Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.
Academic Article	Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice.
Academic Article	Fragile X syndrome and targeted treatment trials.
Academic Article	Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
Academic Article	Variable human phenotype associated with novel deletions of the PHOX2B gene.
Academic Article	Monozygotic twins discordant for ROHHAD phenotype.
Academic Article	Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.
Academic Article	Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
Academic Article	Effect of Anticoagulants on Amyloid ?-Protein Precursor and Amyloid Beta Levels in Plasma.
Academic Article	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
Academic Article	Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
Academic Article	Autonomic regulation in fragile X syndrome.
Academic Article	Targeted treatments for fragile X syndrome.
Academic Article	Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Academic Article	Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome.
Academic Article	Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Academic Article	Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
Academic Article	Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
Academic Article	Open-label add-on treatment trial of minocycline in fragile X syndrome.
Academic Article	Fragile X: leading the way for targeted treatments in autism.
Academic Article	Aging in fragile X syndrome.
Academic Article	Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
Academic Article	Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Academic Article	[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management].
Academic Article	Update on Kleefstra Syndrome.
Academic Article	Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
Academic Article	An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Academic Article	Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
Academic Article	Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
Academic Article	Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
Academic Article	HTR2A variation and sudden infant death syndrome: a case-control analysis.
Academic Article	Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
Academic Article	Genetic variation in the HTR1A gene and sudden infant death syndrome.
Academic Article	Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.
Academic Article	Sudden infant death syndrome: rare mutation in the serotonin system FEV gene.
Academic Article	Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
Academic Article	CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).
Academic Article	Sudden Infant Death Syndrome: review of implicated genetic factors.
Academic Article	Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
Academic Article	PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
Academic Article	Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene.
Academic Article	Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome.
Academic Article	3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis.
Academic Article	In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Academic Article	Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
Academic Article	Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease.
Academic Article	Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction.
Academic Article	Methylation analysis of the fragile X syndrome by PCR.
Academic Article	Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder.
Academic Article	Neurological and endocrine phenotypes of fragile X carrier women.
Academic Article	Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Academic Article	A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
Academic Article	A review of fragile X premutation disorders: expanding the psychiatric perspective.
Academic Article	A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.
Academic Article	Advances in the treatment of fragile X syndrome.
Academic Article	A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.
Academic Article	Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment.
Academic Article	Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.
Academic Article	Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome.
Academic Article	Characterization of potential outcome measures for future clinical trials in fragile X syndrome.
Academic Article	Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
Academic Article	Aging in individuals with the FMR1 mutation.
Academic Article	Psychopharmacology in fragile X syndrome--present and future.
Academic Article	Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
Academic Article	Epilepsy in fragile X syndrome.
Academic Article	Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers.
Academic Article	Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells.
Academic Article	Carnitine levels and the ketogenic diet.
Academic Article	Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin.
Academic Article	Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient.
Academic Article	Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines.
Academic Article	Neuromodulator-mediated phosphorylation of specific proteins in a neurotumor hybrid cell line (NCB-20).
Academic Article	Differential regulation of multiple neuroreceptors in a somatic cell hybrid by inhibitors of glycoprotein processing.
Academic Article	Possible role of gangliosides in regulating an adenylate cyclase-linked 5-hydroxytryptamine (5-HT1) receptor.
Academic Article	Evidence for [D-Ala2,D-Leu5]enkephalin-induced supersensitivity to 5-hydroxytryptamine in a neurotumor x brain hybrid cell line (NCB-20).
Academic Article	Specific receptor-mediated inhibition of cyclic AMP synthesis by dopamine in a neuroblastoma X brain hybrid cell line NCB-20.
Academic Article	Gangliosides as modulators of the coupling of neurotransmitters to adenylate cyclase.
Academic Article	Characterization of an adenylate cyclase-linked serotonin (5-HT1) receptor in a neuroblastoma X brain explant hybrid cell line (NCB-20).
Academic Article	Modulation of an adenylate cyclase-linked serotonin (5-HT) receptor system in a neuroblastoma x brain explant hybrid cell line (NCB-20) by opiates, prostaglandins, and alpha 2-adrenergic agonists.
Academic Article	Cyclic AMP metabolism in fragile X syndrome.
Academic Article	New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry.
Academic Article	Fragile X syndrome in a normal IQ male with learning and emotional problems.
Academic Article	X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus.
Academic Article	Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence.
Academic Article	Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome.
Academic Article	Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.
Academic Article	Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases.
Academic Article	X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Academic Article	Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Academic Article	Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Academic Article	Development of genomic reference materials for Huntington disease genetic testing.
Academic Article	Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-?-Cyclodextrin.
Academic Article	Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans.
Academic Article	Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome.
Academic Article	ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome.
Academic Article	Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
Academic Article	Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome.
Academic Article	The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome.
Academic Article	Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome.
Academic Article	Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents.
Academic Article	Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective.
Academic Article	Best Practices in Fragile X Syndrome Treatment Development.
Academic Article	Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome.
Academic Article	Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Academic Article	Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.
Academic Article	BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing.
Academic Article	Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale.
Academic Article	Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells.
Academic Article	Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome.
Academic Article	Discovering translational biomarkers in neurodevelopmental disorders.
Academic Article	Altered steady state and activity-dependent de novo protein expression in fragile X syndrome.
Academic Article	Emerging pharmacological therapies in fragile X syndrome and autism.
Academic Article	Mutation update for the SATB2 gene.
Academic Article	Preventive care services and health behaviors in children with fragile X syndrome.
Academic Article	N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
Academic Article	Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2.
Academic Article	Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation.
Academic Article	Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample.
Academic Article	Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis.
Academic Article	Toilet Training in Fragile X Syndrome.
Academic Article	Vocabulary comprehension in adults with fragile X syndrome (FXS).
Academic Article	Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation.
Academic Article	Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Academic Article	Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome.
Academic Article	Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS).
Academic Article	Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
Academic Article	Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.
Academic Article	Validation of the NIH Toolbox Cognitive Battery in intellectual disability.
Academic Article	Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome.
Academic Article	Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
Academic Article	TECPR2 mutation-associated respiratory dysregulation: more than central apnea.
Academic Article	Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity.
Academic Article	Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment.
Academic Article	Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome.
Academic Article	Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection.
Academic Article	Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome.
Academic Article	Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death.
Academic Article	Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults.
Academic Article	A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome.
Academic Article	Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
Academic Article	Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition.
Academic Article	Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis.
Academic Article	A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Academic Article	Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X-associated Tremor/Ataxia Syndrome.
Academic Article	Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome.
Academic Article	The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.
Academic Article	Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
Academic Article	Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers.
Academic Article	Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome.
Academic Article	Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Academic Article	A Unique Visual Attention Profile Associated With the FMR1 Premutation.
Academic Article	Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders.
Academic Article	Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling.
Academic Article	Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.
Academic Article	Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
Academic Article	Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.
Academic Article	Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation.
Academic Article	Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial.
Academic Article	Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Academic Article	Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities.
Academic Article	Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.
Academic Article	Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome.
Academic Article	Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
Academic Article	A novel measure of matching categories for early development: Item creation and pilot feasibility study.
Academic Article	Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort.
Academic Article	Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.
Academic Article	The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities.
Academic Article	Normative database of postural sway measures using inertial sensors in typically developing children and young adults.
Academic Article	Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults.
Academic Article	Correction to: Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome.
Academic Article	Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Academic Article	Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome.
Academic Article	Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study.
Academic Article	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
Academic Article	Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome.
Academic Article	The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C.
Academic Article	De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Academic Article	Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort.
Academic Article	Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial.
Academic Article	Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort.
Academic Article	The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Academic Article	Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome.
Academic Article	Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies.
Academic Article	Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome.
Academic Article	Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study.
Academic Article	Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study.
Academic Article	Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Academic Article	Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome.
Academic Article	Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders.
Academic Article	Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives.
Academic Article	Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C.
Academic Article	Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties.
Academic Article	Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study.
Academic Article	Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration.
Academic Article	The association between expressive language skills and adaptive behavior in individuals with Down syndrome.
Academic Article	A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
Academic Article	DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care.
Academic Article	Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability.
Academic Article	Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
Academic Article	Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.
Academic Article	Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP.
Academic Article	Updated consensus guidelines on the management of Phelan-McDermid syndrome.
Academic Article	FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers.
Academic Article	Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.
Academic Article	Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder.
Academic Article	The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities.
Academic Article	Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1.
Academic Article	The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women.
Academic Article	Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Academic Article	Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.
Academic Article	Effects of AFQ056 on language learning in fragile X syndrome.
Academic Article	Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education.
Academic Article	Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
Academic Article	Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1.
Academic Article	Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome.
Academic Article	Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome.
Academic Article	Low normal FMR1 genotype in older adult women: Psychological well-being and motor function.
Academic Article	Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A.

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