Elizabeth Berry-Kravis to Adult
This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Adult.
Connection Strength
2.017
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Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103.
Score: 0.092
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Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med. 2021 05; 27(5):862-870.
Score: 0.080
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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 04; 37:100879.
Score: 0.079
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Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464.
Score: 0.078
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A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 09; 110:30-41.
Score: 0.075
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Vocabulary comprehension in adults with fragile X syndrome (FXS). J Neurodev Disord. 2019 10 16; 11(1):25.
Score: 0.072
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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; 14(1):e0209984.
Score: 0.069
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Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
Score: 0.061
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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13; 8(321):321ra5.
Score: 0.056
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Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
Score: 0.054
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Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84.
Score: 0.051
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Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):1-16.
Score: 0.048
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Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
Score: 0.046
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Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
Score: 0.045
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Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19; 4(152):152ra127.
Score: 0.044
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Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr. 2012 Jan; 33(1):62-9.
Score: 0.042
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Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
Score: 0.039
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A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009 Apr; 46(4):266-71.
Score: 0.034
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Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008 Aug; 29(4):293-302.
Score: 0.033
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Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7.
Score: 0.032
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Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol. 2006 Oct; 16(5):525-40.
Score: 0.029
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Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc. 2005 May; 105(5):718-25.
Score: 0.027
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Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education. Cells. 2023 08 24; 12(17).
Score: 0.024
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Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789.
Score: 0.022
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Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
Score: 0.022
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Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9).
Score: 0.022
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Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51.
Score: 0.021
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Normative database of postural sway measures using inertial sensors in typically developing children and young adults. Gait Posture. 2021 10; 90:112-119.
Score: 0.020
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Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation. Fertil Steril. 2021 09; 116(3):843-854.
Score: 0.020
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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. J Neurodev Disord. 2021 04 08; 13(1):13.
Score: 0.020
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The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS. Cerebellum. 2021 Apr; 20(2):212-221.
Score: 0.019
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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295.
Score: 0.019
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Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults. Gait Posture. 2020 07; 80:206-213.
Score: 0.019
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Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 03 24; 94(12):e1229-e1240.
Score: 0.019
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Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7.
Score: 0.018
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
Score: 0.018
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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. Brain Cogn. 2020 03; 139:105511.
Score: 0.018
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50.
Score: 0.018
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Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiol Behav. 2020 02 01; 214:112746.
Score: 0.018
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Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602.
Score: 0.018
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Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation. PLoS One. 2019; 14(7):e0219924.
Score: 0.018
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Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573.
Score: 0.017
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Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 04 12; 10(1):1710.
Score: 0.017
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Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018 11 19; 8(1):16970.
Score: 0.017
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Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865.
Score: 0.016
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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. Neuropsychopharmacology. 2018 02; 43(3):503-512.
Score: 0.016
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
Score: 0.015
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Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
Score: 0.015
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Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cerebellum. 2015 Dec; 14(6):650-62.
Score: 0.014
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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43.
Score: 0.014
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Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
Score: 0.013
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Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res. 2015 Feb; 24(2):305-14.
Score: 0.013
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Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. Gait Posture. 2014 Feb; 39(2):827-30.
Score: 0.012
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[ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33.
Score: 0.012
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.011
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Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet. 1993 Jan 01; 45(1):81-7.
Score: 0.011
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New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
Score: 0.011
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Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73.
Score: 0.011
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Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6.
Score: 0.011
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Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov; 41(11):1515-22.
Score: 0.010
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Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
Score: 0.010
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FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6.
Score: 0.010
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Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011 Jan 05; 3(64):64ra1.
Score: 0.010
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Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010 Oct 11; 10:91.
Score: 0.010
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Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52.
Score: 0.010
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Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet. 2010 Jul; 78(1):38-46.
Score: 0.009
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An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44.
Score: 0.009
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Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010 Jan; 45(1):92-8.
Score: 0.009
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A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. Genes Brain Behav. 2010 Feb; 9(1):53-64.
Score: 0.009
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Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 05; 150B(4):545-53.
Score: 0.009
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A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
Score: 0.009
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A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42.
Score: 0.008
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Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86.
Score: 0.008
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CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 05; 144B(4):566-9.
Score: 0.008
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Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. Clin Auton Res. 2007 Jun; 17(3):177-85.
Score: 0.008
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Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007 Jan 15; 22(2):203-6.
Score: 0.007
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Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
Score: 0.007
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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15; 174(8):923-7.
Score: 0.007
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Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45.
Score: 0.007
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
Score: 0.007
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Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005 Jan 01; 171(1):88.
Score: 0.006
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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. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78.
Score: 0.006
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Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers. Optom Vis Sci. 2000 Nov; 77(11):592-9.
Score: 0.005
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Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21.
Score: 0.003
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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. J Biol Chem. 1994 Feb 18; 269(7):4819-26.
Score: 0.003
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Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci. 1993; 52(25):2005-15.
Score: 0.003