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Connection

Elizabeth Berry-Kravis to Nerve Tissue Proteins

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

1.651
  1. TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020 06 15; 16(6):977-982.
    View in: PubMed
    Score: 0.667
  2. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. HGG Adv. 2023 01 12; 4(1):100145.
    View in: PubMed
    Score: 0.195
  3. 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: 0.087
  4. Neuromodulator-mediated phosphorylation of specific proteins in a neurotumor hybrid cell line (NCB-20). J Neurochem. 1988 Apr; 50(4):1287-96.
    View in: PubMed
    Score: 0.072
  5. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14.
    View in: PubMed
    Score: 0.064
  6. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7.
    View in: PubMed
    Score: 0.057
  7. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64.
    View in: PubMed
    Score: 0.054
  8. 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: 0.054
  9. 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: 0.053
  10. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
    View in: PubMed
    Score: 0.051
  11. 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: 0.050
  12. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8.
    View in: PubMed
    Score: 0.049
  13. 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
  14. 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.
    View in: PubMed
    Score: 0.028
  15. 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: 0.023
  16. Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease. Neurobiol Dis. 2009 Apr; 34(1):40-50.
    View in: PubMed
    Score: 0.019
  17. Development of genomic reference materials for Huntington disease genetic testing. Genet Med. 2007 Oct; 9(10):719-23.
    View in: PubMed
    Score: 0.017
  18. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88.
    View in: PubMed
    Score: 0.017
  19. 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: 0.016
  20. 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: 0.014
  21. 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: 0.013
  22. 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
  23. Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5.
    View in: PubMed
    Score: 0.008
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.