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Connection

Elizabeth Berry-Kravis to Fragile X Mental Retardation Protein

This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Fragile X Mental Retardation Protein.
  1. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
    View in: PubMed
    Score: 0.552
  2. Fragile X gene expansions are not associated with dementia. Neurobiol Aging. 2014 Nov; 35(11):2637-2638.
    View in: PubMed
    Score: 0.428
  3. 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: 0.353
  4. Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. Exp Brain Res. 2023 Aug; 241(8):1975-1987.
    View in: PubMed
    Score: 0.202
  5. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers. Am J Intellect Dev Disabil. 2023 01 01; 128(1):1-20.
    View in: PubMed
    Score: 0.195
  6. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56.
    View in: PubMed
    Score: 0.194
  7. Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders. J Child Neurol. 2022 10; 37(10-11):797-812.
    View in: PubMed
    Score: 0.189
  8. Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies. Am J Intellect Dev Disabil. 2022 03 01; 127(2):90-94.
    View in: PubMed
    Score: 0.184
  9. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866.
    View in: PubMed
    Score: 0.181
  10. Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort. Mov Disord. 2021 10; 36(10):2378-2386.
    View in: PubMed
    Score: 0.175
  11. 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.
    View in: PubMed
    Score: 0.174
  12. Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. 2021 07; 129:105266.
    View in: PubMed
    Score: 0.174
  13. Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation. Pediatrics. 2021 05; 147(5).
    View in: PubMed
    Score: 0.174
  14. 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.
    View in: PubMed
    Score: 0.174
  15. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 2021 04 13; 35(2):108991.
    View in: PubMed
    Score: 0.173
  16. 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. Expert Rev Mol Diagn. 2021 03; 21(3):255-267.
    View in: PubMed
    Score: 0.173
  17. Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death. Mov Disord. 2020 08; 35(8):1448-1456.
    View in: PubMed
    Score: 0.163
  18. Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiol Behav. 2020 02 01; 214:112746.
    View in: PubMed
    Score: 0.157
  19. Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195.
    View in: PubMed
    Score: 0.155
  20. 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.
    View in: PubMed
    Score: 0.154
  21. 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: 0.128
  22. 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: 0.127
  23. Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
    View in: PubMed
    Score: 0.127
  24. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2016 08; 15(4):475-82.
    View in: PubMed
    Score: 0.125
  25. 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: 0.119
  26. Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
    View in: PubMed
    Score: 0.117
  27. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608.
    View in: PubMed
    Score: 0.116
  28. White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology. 2015 May 26; 84(21):2146-52.
    View in: PubMed
    Score: 0.115
  29. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
    View in: PubMed
    Score: 0.097
  30. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012; 54:297-335.
    View in: PubMed
    Score: 0.091
  31. 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: 0.090
  32. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6.
    View in: PubMed
    Score: 0.087
  33. 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: 0.085
  34. 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: 0.080
  35. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
    View in: PubMed
    Score: 0.078
  36. 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: 0.077
  37. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
    View in: PubMed
    Score: 0.076
  38. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
    View in: PubMed
    Score: 0.069
  39. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007 Jan 15; 22(2):203-6.
    View in: PubMed
    Score: 0.065
  40. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
    View in: PubMed
    Score: 0.064
  41. 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: 0.059
  42. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7.
    View in: PubMed
    Score: 0.056
  43. Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education. Cells. 2023 08 24; 12(17).
    View in: PubMed
    Score: 0.051
  44. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120.
    View in: PubMed
    Score: 0.050
  45. Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome. Am J Intellect Dev Disabil. 2023 05 01; 128(3):254-268.
    View in: PubMed
    Score: 0.050
  46. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.048
  47. Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2022 Feb; 21(1):86-98.
    View in: PubMed
    Score: 0.044
  48. 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: 0.034
  49. The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
    View in: PubMed
    Score: 0.033
  50. Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
    View in: PubMed
    Score: 0.033
  51. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43.
    View in: PubMed
    Score: 0.030
  52. 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: 0.025
  53. 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: 0.024
  54. 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: 0.022
  55. 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: 0.022
  56. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52.
    View in: PubMed
    Score: 0.021
  57. 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: 0.020
  58. 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: 0.018
  59. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008; 3(2):251-62.
    View in: PubMed
    Score: 0.017
  60. 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: 0.016
  61. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
    View in: PubMed
    Score: 0.013
  62. 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: 0.013
  63. 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: 0.012
  64. 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: 0.012
  65. Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5.
    View in: PubMed
    Score: 0.008
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Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.