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Elizabeth Berry-Kravis to Fragile X Syndrome

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This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Fragile X Syndrome.
Elizabeth Berry-Kravis
Connection Strength
15.557
Fragile X Syndrome
  1. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
    View in: PubMed
    Score: 0.528
  2. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018 04; 17(4):280-299.
    View in: PubMed
    Score: 0.525
  3. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206.
    View in: PubMed
    Score: 0.507
  4. Importance of a specialty clinic for individuals with fragile X syndrome. Am J Med Genet A. 2016 12; 170(12):3144-3149.
    View in: PubMed
    Score: 0.483
  5. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2016 08; 15(4):475-82.
    View in: PubMed
    Score: 0.478
  6. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13; 8(321):321ra5.
    View in: PubMed
    Score: 0.461
  7. Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
    View in: PubMed
    Score: 0.449
  8. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608.
    View in: PubMed
    Score: 0.444
  9. Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84.
    View in: PubMed
    Score: 0.426
  10. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov; 134(5):995-1005.
    View in: PubMed
    Score: 0.422
  11. Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65.
    View in: PubMed
    Score: 0.419
  12. 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.
    View in: PubMed
    Score: 0.400
  13. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol. 2014 Apr; 50(4):297-302.
    View in: PubMed
    Score: 0.398
  14. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep; 34(7):508-22.
    View in: PubMed
    Score: 0.391
  15. Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51.
    View in: PubMed
    Score: 0.382
  16. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
    View in: PubMed
    Score: 0.369
  17. 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.
    View in: PubMed
    Score: 0.366
  18. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012; 54:297-335.
    View in: PubMed
    Score: 0.348
  19. 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.
    View in: PubMed
    Score: 0.348
  20. Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype? Neurology. 2011 Aug 16; 77(7):612-3.
    View in: PubMed
    Score: 0.337
  21. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
    View in: PubMed
    Score: 0.321
  22. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009 Apr; 46(4):266-71.
    View in: PubMed
    Score: 0.283
  23. 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.
    View in: PubMed
    Score: 0.275
  24. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7.
    View in: PubMed
    Score: 0.268
  25. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007 Oct 31; 22(14):2018-30, quiz 2140.
    View in: PubMed
    Score: 0.261
  26. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
    View in: PubMed
    Score: 0.246
  27. 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.
    View in: PubMed
    Score: 0.242
  28. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7.
    View in: PubMed
    Score: 0.214
  29. Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev. 2004; 10(1):42-8.
    View in: PubMed
    Score: 0.200
  30. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol. 2003 May; 53(5):616-23.
    View in: PubMed
    Score: 0.191
  31. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.184
  32. Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells. J Neurosci Res. 1998 Jan 01; 51(1):41-8.
    View in: PubMed
    Score: 0.132
  33. Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065.
    View in: PubMed
    Score: 0.130
  34. 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.
    View in: PubMed
    Score: 0.129
  35. The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
    View in: PubMed
    Score: 0.127
  36. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
    View in: PubMed
    Score: 0.127
  37. Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
    View in: PubMed
    Score: 0.127
  38. A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics. 2016; 8:130.
    View in: PubMed
    Score: 0.122
  39. Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum. 2016 10; 15(5):578-86.
    View in: PubMed
    Score: 0.121
  40. Clinicians' experiences with the fragile X clinical and research consortium. Am J Med Genet A. 2016 12; 170(12):3138-3143.
    View in: PubMed
    Score: 0.120
  41. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
    View in: PubMed
    Score: 0.119
  42. 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.
    View in: PubMed
    Score: 0.114
  43. Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
    View in: PubMed
    Score: 0.111
  44. White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology. 2015 May 26; 84(21):2146-52.
    View in: PubMed
    Score: 0.110
  45. Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res. 2015 Feb; 24(2):305-14.
    View in: PubMed
    Score: 0.104
  46. Climbing the branches of a family tree: diagnosis of fragile X syndrome. J Pediatr. 2014 Jun; 164(6):1292-5.
    View in: PubMed
    Score: 0.101
  47. Development of mavoglurant and its potential for the treatment of fragile X syndrome. Expert Opin Investig Drugs. 2014 Jan; 23(1):125-34.
    View in: PubMed
    Score: 0.099
  48. The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl). 2014 Mar; 231(6):1237-50.
    View in: PubMed
    Score: 0.099
  49. Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. Gait Posture. 2014 Feb; 39(2):827-30.
    View in: PubMed
    Score: 0.099
  50. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013 Apr; 161A(4):771-8.
    View in: PubMed
    Score: 0.094
  51. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012 Jul; 42(7):1377-92.
    View in: PubMed
    Score: 0.090
  52. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov; 41(11):1515-22.
    View in: PubMed
    Score: 0.086
  53. Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice. PLoS One. 2011; 6(10):e26549.
    View in: PubMed
    Score: 0.086
  54. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012 Jan; 37(1):178-95.
    View in: PubMed
    Score: 0.084
  55. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct; 122(4):467-79.
    View in: PubMed
    Score: 0.084
  56. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2011 Aug 01; 20(15):3079-92.
    View in: PubMed
    Score: 0.083
  57. Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011 Dec; 53(8):785-95.
    View in: PubMed
    Score: 0.083
  58. 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.
    View in: PubMed
    Score: 0.081
  59. Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010 Oct 11; 10:91.
    View in: PubMed
    Score: 0.080
  60. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52.
    View in: PubMed
    Score: 0.079
  61. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul; 7(3):264-74.
    View in: PubMed
    Score: 0.078
  62. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet. 2010 Jul; 78(1):38-46.
    View in: PubMed
    Score: 0.077
  63. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar 05; 5(3):e9476.
    View in: PubMed
    Score: 0.077
  64. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
    View in: PubMed
    Score: 0.075
  65. 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.
    View in: PubMed
    Score: 0.074
  66. 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.
    View in: PubMed
    Score: 0.073
  67. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
    View in: PubMed
    Score: 0.072
  68. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90.
    View in: PubMed
    Score: 0.071
  69. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42.
    View in: PubMed
    Score: 0.070
  70. Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 05; 147B(7):1253-7.
    View in: PubMed
    Score: 0.070
  71. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
    View in: PubMed
    Score: 0.066
  72. 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.
    View in: PubMed
    Score: 0.063
  73. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007 Oct; 16(5):593-606.
    View in: PubMed
    Score: 0.063
  74. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord. 2006 Oct; 21(10):1741-4.
    View in: PubMed
    Score: 0.060
  75. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):115-21.
    View in: PubMed
    Score: 0.057
  76. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology. 2005 Jul 26; 65(2):299-301.
    View in: PubMed
    Score: 0.056
  77. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
    View in: PubMed
    Score: 0.051
  78. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28; 291(4):460-9.
    View in: PubMed
    Score: 0.050
  79. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78.
    View in: PubMed
    Score: 0.047
  80. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002 Nov-Dec; 23(10):1757-66.
    View in: PubMed
    Score: 0.046
  81. 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.
    View in: PubMed
    Score: 0.040
  82. Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5.
    View in: PubMed
    Score: 0.031
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.