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Elizabeth Berry-Kravis to Humans

This is a "connection" page, showing publications Elizabeth Berry-Kravis has written about Humans.
Connection Strength

3.871
  1. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391.
    View in: PubMed
    Score: 0.090
  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: 0.090
  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: 0.086
  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: 0.082
  5. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2016 08; 15(4):475-82.
    View in: PubMed
    Score: 0.082
  6. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
    View in: PubMed
    Score: 0.081
  7. 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: 0.079
  8. Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes. Dev Med Child Neurol. 2016 Mar; 58(3):221-2.
    View in: PubMed
    Score: 0.079
  9. Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7.
    View in: PubMed
    Score: 0.077
  10. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608.
    View in: PubMed
    Score: 0.076
  11. Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84.
    View in: PubMed
    Score: 0.073
  12. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov; 134(5):995-1005.
    View in: PubMed
    Score: 0.072
  13. Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65.
    View in: PubMed
    Score: 0.071
  14. Fragile X gene expansions are not associated with dementia. Neurobiol Aging. 2014 Nov; 35(11):2637-2638.
    View in: PubMed
    Score: 0.070
  15. 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: 0.068
  16. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol. 2014 Apr; 50(4):297-302.
    View in: PubMed
    Score: 0.068
  17. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep; 34(7):508-22.
    View in: PubMed
    Score: 0.067
  18. 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: 0.065
  19. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35.
    View in: PubMed
    Score: 0.063
  20. 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: 0.062
  21. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012; 54:297-335.
    View in: PubMed
    Score: 0.059
  22. 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: 0.059
  23. 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: 0.058
  24. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72.
    View in: PubMed
    Score: 0.055
  25. 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: 0.048
  26. 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: 0.047
  27. 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: 0.046
  28. 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: 0.044
  29. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A. 2007 Apr 15; 143A(8):771-88.
    View in: PubMed
    Score: 0.043
  30. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26.
    View in: PubMed
    Score: 0.042
  31. 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: 0.041
  32. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44.
    View in: PubMed
    Score: 0.041
  33. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet A. 2006 Aug 01; 140(15):1687-91.
    View in: PubMed
    Score: 0.041
  34. Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet A. 2006 Jul 01; 140(13):1447-52.
    View in: PubMed
    Score: 0.041
  35. 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.
    View in: PubMed
    Score: 0.037
  36. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7.
    View in: PubMed
    Score: 0.037
  37. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004 Jul 01; 170(1):16-21.
    View in: PubMed
    Score: 0.035
  38. Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev. 2004; 10(1):42-8.
    View in: PubMed
    Score: 0.034
  39. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol. 2003 May; 53(5):616-23.
    View in: PubMed
    Score: 0.033
  40. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.031
  41. Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51.
    View in: PubMed
    Score: 0.029
  42. 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.
    View in: PubMed
    Score: 0.022
  43. Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065.
    View in: PubMed
    Score: 0.022
  44. 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: 0.022
  45. Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768.
    View in: PubMed
    Score: 0.022
  46. The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152.
    View in: PubMed
    Score: 0.022
  47. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193.
    View in: PubMed
    Score: 0.022
  48. Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225.
    View in: PubMed
    Score: 0.022
  49. 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: 0.021
  50. 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: 0.021
  51. Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31.
    View in: PubMed
    Score: 0.021
  52. 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: 0.021
  53. Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med. 2016 05 04; 8(337):337ra63.
    View in: PubMed
    Score: 0.020
  54. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15.
    View in: PubMed
    Score: 0.020
  55. 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: 0.019
  56. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016 Jan 15; 221:59-63.
    View in: PubMed
    Score: 0.019
  57. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015 Aug 25; 10:103.
    View in: PubMed
    Score: 0.019
  58. Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40.
    View in: PubMed
    Score: 0.019
  59. White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology. 2015 May 26; 84(21):2146-52.
    View in: PubMed
    Score: 0.019
  60. Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders. J Biol Chem. 2015 Apr 17; 290(16):10309-24.
    View in: PubMed
    Score: 0.019
  61. 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: 0.018
  62. Climbing the branches of a family tree: diagnosis of fragile X syndrome. J Pediatr. 2014 Jun; 164(6):1292-5.
    View in: PubMed
    Score: 0.017
  63. Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome. Acta Paediatr. 2013 Dec; 102(12):e546-52.
    View in: PubMed
    Score: 0.017
  64. 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: 0.017
  65. The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl). 2014 Mar; 231(6):1237-50.
    View in: PubMed
    Score: 0.017
  66. 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: 0.017
  67. [ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33.
    View in: PubMed
    Score: 0.016
  68. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn. 2013 Jul; 15(4):518-25.
    View in: PubMed
    Score: 0.016
  69. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
    View in: PubMed
    Score: 0.016
  70. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord. 2013 Sep; 28(10):1462-3.
    View in: PubMed
    Score: 0.016
  71. 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: 0.016
  72. 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.
    View in: PubMed
    Score: 0.016
  73. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75.
    View in: PubMed
    Score: 0.016
  74. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4.
    View in: PubMed
    Score: 0.016
  75. Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? Indian J Pediatr. 2013 Aug; 80(8):688-90.
    View in: PubMed
    Score: 0.015
  76. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301.
    View in: PubMed
    Score: 0.015
  77. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73.
    View in: PubMed
    Score: 0.015
  78. 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: 0.015
  79. 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: 0.015
  80. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011 Oct; 70(4):375-8.
    View in: PubMed
    Score: 0.015
  81. Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61.
    View in: PubMed
    Score: 0.014
  82. Monozygotic twins discordant for ROHHAD phenotype. Pediatrics. 2011 Sep; 128(3):e711-5.
    View in: PubMed
    Score: 0.014
  83. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012 Jan; 37(1):178-95.
    View in: PubMed
    Score: 0.014
  84. 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: 0.014
  85. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6.
    View in: PubMed
    Score: 0.014
  86. 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: 0.014
  87. Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011 Dec; 53(8):785-95.
    View in: PubMed
    Score: 0.014
  88. Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations. Mov Disord. 2011 Aug 01; 26(9):1781-2.
    View in: PubMed
    Score: 0.014
  89. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11; 88(2):138-49.
    View in: PubMed
    Score: 0.014
  90. 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: 0.014
  91. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol. 2010 Dec; 19(4):224-31.
    View in: PubMed
    Score: 0.014
  92. Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010 Oct 11; 10:91.
    View in: PubMed
    Score: 0.014
  93. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52.
    View in: PubMed
    Score: 0.013
  94. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul; 7(3):264-74.
    View in: PubMed
    Score: 0.013
  95. 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: 0.013
  96. 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.
    View in: PubMed
    Score: 0.013
  97. 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: 0.013
  98. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010 Jan; 45(1):92-8.
    View in: PubMed
    Score: 0.013
  99. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312.
    View in: PubMed
    Score: 0.013
  100. 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: 0.013
  101. 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: 0.012
  102. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35.
    View in: PubMed
    Score: 0.012
  103. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62.
    View in: PubMed
    Score: 0.012
  104. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90.
    View in: PubMed
    Score: 0.012
  105. Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP). Acta Paediatr. 2009 Mar; 98(3):482-9.
    View in: PubMed
    Score: 0.012
  106. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir Physiol Neurobiol. 2008 Dec 10; 164(1-2):38-48.
    View in: PubMed
    Score: 0.012
  107. 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: 0.012
  108. 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: 0.012
  109. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan; 98(1):192-5.
    View in: PubMed
    Score: 0.012
  110. HTR2A variation and sudden infant death syndrome: a case-control analysis. Acta Paediatr. 2009 Jan; 98(1):58-61.
    View in: PubMed
    Score: 0.012
  111. Genetic variation in the HTR1A gene and sudden infant death syndrome. Am J Med Genet A. 2008 Apr 01; 146A(7):930-3.
    View in: PubMed
    Score: 0.011
  112. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86.
    View in: PubMed
    Score: 0.011
  113. 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: 0.011
  114. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402.
    View in: PubMed
    Score: 0.011
  115. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res. 2007 Aug; 62(2):180-2.
    View in: PubMed
    Score: 0.011
  116. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88.
    View in: PubMed
    Score: 0.011
  117. 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: 0.011
  118. 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.
    View in: PubMed
    Score: 0.011
  119. 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: 0.011
  120. 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: 0.011
  121. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord. 2006 Oct; 21(10):1741-4.
    View in: PubMed
    Score: 0.010
  122. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
    View in: PubMed
    Score: 0.010
  123. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15; 174(8):923-7.
    View in: PubMed
    Score: 0.010
  124. 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet A. 2006 Jul 01; 140(13):1453-7.
    View in: PubMed
    Score: 0.010
  125. Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A. 2006 Jun 13; 103(24):9345-50.
    View in: PubMed
    Score: 0.010
  126. 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.
    View in: PubMed
    Score: 0.010
  127. 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: 0.010
  128. Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. J Neurol Neurosurg Psychiatry. 2005 Sep; 76(9):1194-9.
    View in: PubMed
    Score: 0.010
  129. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82.
    View in: PubMed
    Score: 0.010
  130. 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: 0.010
  131. The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons. Stroke. 2005 May; 36(5):954-9.
    View in: PubMed
    Score: 0.009
  132. The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment. Neurocase. 2005 Feb; 11(1):3-7.
    View in: PubMed
    Score: 0.009
  133. 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.
    View in: PubMed
    Score: 0.009
  134. Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. Arch Neurol. 2004 Aug; 61(8):1280-4.
    View in: PubMed
    Score: 0.009
  135. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004 Sep; 56(3):391-5.
    View in: PubMed
    Score: 0.009
  136. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
    View in: PubMed
    Score: 0.009
  137. 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: 0.009
  138. 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.
    View in: PubMed
    Score: 0.008
  139. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet A. 2003 Oct 15; 122A(3):238-45.
    View in: PubMed
    Score: 0.008
  140. Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet A. 2003 Mar 15; 117A(3):268-74.
    View in: PubMed
    Score: 0.008
  141. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78.
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    Score: 0.008
  142. Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status. Arch Neurol. 2003 Feb; 60(2):185-9.
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    Score: 0.008
  143. Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology. 2003 Jan 28; 60(2):246-52.
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    Score: 0.008
  144. The apolipoprotein E epsilon 2 allele and decline in episodic memory. J Neurol Neurosurg Psychiatry. 2002 Dec; 73(6):672-7.
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  145. 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.
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    Score: 0.008
  146. The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period. Arch Neurol. 2002 Jul; 59(7):1154-60.
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  147. 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.
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  148. Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5.
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    Score: 0.005
  149. 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.
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    Score: 0.004
  150. Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci. 1993; 52(25):2005-15.
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    Score: 0.004
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.