deLeon D - Search Results

1

A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.

Klein C, Schilling K, Saunders-Pullman RJ, Garrels J, Breakefield XO, Brin MF, deLeon D, Doheny D, Fahn S, Fink JS, Forsgren L, Friedman J, Frucht S, Harris J, Holmgren G, Kis B, Kurlan R, Kyllerman M, Lang AE, Leung J, Raymond D, Robishaw JD, Sanner G, Schwinger E, Tabamo RE, Tagliati M. Klein C, et al. Among authors: deleon d. Am J Hum Genet. 2000 Nov;67(5):1314-9. Epub 2000 Oct 5. Am J Hum Genet. 2000. PMID: 11022010 Free PMC article.

2

Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.

Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. Klein C, et al. Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5173-6. doi: 10.1073/pnas.96.9.5173. Proc Natl Acad Sci U S A. 1999. PMID: 10220438 Free PMC article.

3

Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.

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. Klein C, et al. Ann Neurol. 2000 Mar;47(3):369-73. Ann Neurol. 2000. PMID: 10716258

4

Phenotypic features of myoclonus-dystonia in three kindreds.

Doheny DO, Brin MF, Morrison CE, Smith CJ, Walker RH, Abbasi S, Müller B, Garrels J, Liu L, De Carvalho Aguiar P, Schilling K, Kramer P, De Leon D, Raymond D, Saunders-Pullman R, Klein C, Bressman SB, Schmand B, Tijssen MA, Ozelius LJ, Silverman JM. Doheny DO, et al. Neurology. 2002 Oct 22;59(8):1187-96. doi: 10.1212/wnl.59.8.1187. Neurology. 2002. PMID: 12391346

5

Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.

Klein C, Liu L, Doheny D, Kock N, Müller B, de Carvalho Aguiar P, Leung J, de Leon D, Bressman SB, Silverman J, Smith C, Danisi F, Morrison C, Walker RH, Velickovic M, Schwinger E, Kramer PL, Breakefield XO, Brin MF, Ozelius LJ. Klein C, et al. Ann Neurol. 2002 Nov;52(5):675-9. doi: 10.1002/ana.10358. Ann Neurol. 2002. PMID: 12402271

6

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.

Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF, et al. Ozelius LJ, et al. Am J Hum Genet. 1992 Mar;50(3):619-28. Am J Hum Genet. 1992. PMID: 1347197 Free PMC article.

7

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.

Risch NJ, Bressman SB, deLeon D, Brin MF, Burke RE, Greene PE, Shale H, Claus EB, Cupples LA, Fahn S. Risch NJ, et al. Among authors: deleon d. Am J Hum Genet. 1990 Mar;46(3):533-8. Am J Hum Genet. 1990. PMID: 2309703 Free PMC article.

8

Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.

Bressman SB, Hunt AL, Heiman GA, Brin MF, Burke RE, Fahn S, Trugman JM, de Leon D, Kramer PL, Wilhelmsen KC, et al. Bressman SB, et al. Mov Disord. 1994 Nov;9(6):626-32. doi: 10.1002/mds.870090608. Mov Disord. 1994. PMID: 7845403

9

Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.

Bressman SB, de Leon D, Kramer PL, Ozelius LJ, Brin MF, Greene PE, Fahn S, Breakefield XO, Risch NJ. Bressman SB, et al. Ann Neurol. 1994 Nov;36(5):771-7. doi: 10.1002/ana.410360514. Ann Neurol. 1994. PMID: 7979224

10

The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

Kramer PL, Heiman GA, Gasser T, Ozelius LJ, de Leon D, Brin MF, Burke RE, Hewett J, Hunt AL, Moskowitz C, et al. Kramer PL, et al. Am J Hum Genet. 1994 Sep;55(3):468-75. Am J Hum Genet. 1994. PMID: 8079990 Free PMC article.

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