Profiles

Keywords
Last Name
Institution

Connection

Search Results to Elizabeth Berry-Kravis

This is a "connection" page, showing the details of why an item matched the keywords from your search.

                     
                     

One or more keywords matched the following properties of Berry-Kravis, Elizabeth

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

One or more keywords matched the following items that are connected to Berry-Kravis, Elizabeth

Item TypeName
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-ß-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 AßPP/Aß 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 ß-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 Bruising and the ketogenic diet: evidence for diet-induced changes in platelet function.
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-ß-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-ß-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.

Search Criteria
  • Fruit