Harvard Catalyst Profiles

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Dianne A De Leon, M.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Stavert R, Meydani-Korb A, de Leon D, Osgood R, Blau J, Luu T. Evaluation of SARS-CoV-2 antibodies in 24 patients presenting with chilblains-like lesions during the COVID-19 pandemic. J Am Acad Dermatol. 2020 Dec; 83(6):1753-1755. PMID: 32822790.
    Citations: 2     Fields:    Translation:HumansCellsPHPublic Health
  2. Klein C, Gurvich N, Sena-Esteves M, Bressman S, Brin MF, Ebersole BJ, Fink S, Forsgren L, Friedman J, Grimes D, Holmgren G, Kyllerman M, Lang AE, de Leon D, Leung J, Prioleau C, Raymond D, Sanner G, Saunders-Pullman R, Vieregge P, Wahlström J, Breakefield XO, Kramer PL, Ozelius LJ, Sealfon SC. Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol. 2000 Mar; 47(3):369-73. PMID: 10716258.
    Citations: 6     Fields:    Translation:Humans
  3. Ozelius LJ, Page CE, Klein C, Hewett JW, Mineta M, Leung J, Shalish C, Bressman SB, de Leon D, Brin MF, Fahn S, Corey DP, Breakefield XO. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics. 1999 Dec 15; 62(3):377-84. PMID: 10644435.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  4. Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A. 1999 Apr 27; 96(9):5173-6. PMID: 10220438.
    Citations: 15     Fields:    Translation:HumansCells
  5. Klein C, Page CE, LeWitt P, Gordon MF, de Leon D, Awaad Y, Breakefield XO, Brin MF, Ozelius LJ. Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology. 1999 Feb; 52(3):649-51. PMID: 10025808.
    Citations: 6     Fields:    Translation:HumansCells
  6. Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test. 1999; 3(4):323-8. PMID: 10627938.
    Citations: 9     Fields:    Translation:HumansCells
  7. Klein C, Brin MF, de Leon D, Limborska SA, Ivanova-Smolenskaya IA, Bressman SB, Friedman A, Markova ED, Risch NJ, Breakefield XO, Ozelius LJ. De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet. 1998 Jul; 7(7):1133-6. PMID: 9618171.
    Citations: 11     Fields:    Translation:HumansCells
  8. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Jacoby D, Penney J, Risch NJ, Fahn S, Gusella JF, Breakefield XO. The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol. 1998; 78:93-105. PMID: 9750906.
    Citations: 13     Fields:    Translation:Humans
  9. Ozelius LJ, Hewett JW, Page CE, Bressman SB, Kramer PL, Shalish C, de Leon D, Brin MF, Raymond D, Corey DP, Fahn S, Risch NJ, Buckler AJ, Gusella JF, Breakefield XO. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet. 1997 Sep; 17(1):40-8. PMID: 9288096.
    Citations: 315     Fields:    Translation:HumansAnimalsCells
  10. Ozelius LJ, Hewett J, Kramer P, Bressman SB, Shalish C, de Leon D, Rutter M, Risch N, Brin MF, Markova ED, Limborska SA, Ivanova-Smolenskaya IA, McCormick MK, Fahn S, Buckler AJ, Gusella JF, Breakefield XO. Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res. 1997 May; 7(5):483-94. PMID: 9149944.
    Citations: 11     Fields:    Translation:HumansCells
  11. Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet. 1992 Mar; 50(3):619-28. PMID: 1347197.
    Citations: 26     Fields:    Translation:HumansCells
  12. Ozelius L, Kramer PL, Moskowitz CB, Kwiatkowski DJ, Brin MF, Bressman SB, Schuback DE, Falk CT, Risch N, de Leon D, et al. Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron. 1989 May; 2(5):1427-34. PMID: 2576373.
    Citations: 38     Fields:    Translation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.