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Deborah de Leon

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Susan Bressman; Deborah Raymond; K Wendt; Rachel Saunders-Pullman; Deborah de Leon; Stanley Fahn; Laurie J Ozelius; Neil Risch
Diagnostic criteria for dystonia in DYT1 families.
Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia de Carvalho Aguiar; Joanne Leung; Deborah de Leon; Susan Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L Kramer; Xandra O Breakefield; Mitchell F Brin; Laurie J Ozelius
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Dana Doheny; Fabio Danisi; Christopher Smith; C Morrison; Miodrag Velickovic; Deborah de Leon; Susan Bressman; Joanne Leung; Laurie J Ozelius; Christine Klein; Xandra O Breakefield; Mitchell F Brin; Jeremy Silverman
Clinical findings of a myoclonus-dystonia family with two distinct mutations.

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All Publications

2002: Susan Bressman; Deborah Raymond; K Wendt; Rachel Saunders-Pullman; Deborah de Leon; Stanley Fahn; Laurie J Ozelius; Neil Risch
Diagnostic criteria for dystonia in DYT1 families.
Neurology 2002;59(11):1780-2.
2002: Christine Klein; Liu Liu; Dana Doheny; Norman Kock; Birgitt Müller; Patricia de Carvalho Aguiar; Joanne Leung; Deborah de Leon; Susan Bressman; Jeremy Silverman; Christopher Smith; Fabio Danisi; Chris Morrison; Ruth H Walker; Miodrag Velickovic; Eberhard Schwinger; Patricia L Kramer; Xandra O Breakefield; Mitchell F Brin; Laurie J Ozelius
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Annals of neurology 2002;52(5):675-9.
2002: Dana Doheny; Fabio Danisi; Christopher Smith; C Morrison; Miodrag Velickovic; Deborah de Leon; Susan Bressman; Joanne Leung; Laurie J Ozelius; Christine Klein; Xandra O Breakefield; Mitchell F Brin; Jeremy Silverman
Clinical findings of a myoclonus-dystonia family with two distinct mutations.
Neurology 2002;59(8):1244-6.
2002: Dana Doheny; Mitchell F Brin; Chris E Morrison; C J Smith; Ruth H Walker; S Abbasi; Birgitt Müller; Jennifer Garrels; Liu Liu; Patricia de Carvalho Aguiar; Karla Schilling; Patricia L Kramer; Deborah de Leon; Deborah Raymond; Rachel Saunders-Pullman; Christine Klein; Susan Bressman; B Schmand; Marina A J Tijssen; Laurie J Ozelius; Jeremy Silverman
Phenotypic features of myoclonus-dystonia in three kindreds.
Neurology 2002;59(8):1187-96.
2000: Susan Bressman; C Sabatti; Deborah Raymond; Deborah de Leon; Christine Klein; Patricia L Kramer; Mitchell F Brin; Stanley Fahn; Xandra O Breakefield; Laurie J Ozelius; Neil J Risch
The DYT1 phenotype and guidelines for diagnostic testing.
Neurology 2000;54(9):1746-52.
2000: Christine Klein; Nadia Gurvich; Miguel Sena-Esteves; Susan Bressman; Mitchell F Brin; Barbara J Ebersole; S Fink; Lars Forsgren; Jennifer Friedman; D Grimes; Gösta Holmgren; M Kyllerman; Anthony E Lang; Deborah de Leon; Joanne Leung; C Prioleau; Deborah Raymond; G Sanner; Rachel Saunders-Pullman; Peter Vieregge; J Wahlström; Xandra O Breakefield; Patricia L Kramer; Laurie J Ozelius; Stuart C Sealfon
Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia.
Annals of neurology 2000;47(3):369-73.
1999: Laurie J Ozelius; CE Page; Christine Klein; Jeffrey W Hewett; M Mineta; Joanne Leung; Christo Shalish; Susan Bressman; Deborah de Leon; Mitchell F Brin; Stanley Fahn; David P Corey; Xandra O Breakefield
The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.
Genomics 1999;62(3):377-84.
1999: Patricia L Kramer; M Mineta; Christine Klein; Karla Schilling; Deborah de Leon; Martin R Farlow; Xandra O Breakefield; Susan Bressman; W B Dobyns; Laurie J Ozelius; Allison Brashear
Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13.
Annals of neurology 1999;46(2):176-82.
1999: Christine Klein; Mitchell F Brin; Patricia L Kramer; Miguel Sena-Esteves; Deborah de Leon; Dana Doheny; Susan Bressman; Stanley Fahn; Xandra O Breakefield; Laurie J Ozelius
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(9):5173-6.
1999: Christine Klein; CE Page; Peter LeWitt; Mark Forrest Gordon; Deborah de Leon; Yasser Awaad; Xandra O Breakefield; Mitchell F Brin; Laurie J Ozelius
Genetic analysis of three patients with an 18p- syndrome and dystonia.
Neurology 1999;52(3):649-51.
1999: Christine Klein; Jennifer Friedman; Susan Bressman; Peter Vieregge; Mitchell F Brin; Peter P Pramstaller; Deborah de Leon; Johann Hagenah; MG Sieberer; C Fleet; Rosemary Kiely; W Xin; Xandra O Breakefield; Laurie J Ozelius; Katherine B Sims
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.
Genetic testing 1999;3(4):323-8.
1998: Christine Klein; Mitchell F Brin; Deborah de Leon; Svetlana A Limborska; Irina A Ivanova-Smolenskaya; Susan Bressman; A Friedman; Elena D Markova; Neil J Risch; Xandra O Breakefield; Laurie J Ozelius
De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.
Human molecular genetics 1998;7(7):1133-6.
1998: Susan Bressman; Deborah de Leon; Deborah Raymond; Paul Greene; Mitchell F Brin; Stanley Fahn; Laurie J Ozelius; Xandra O Breakefield; Patricia L Kramer; Neil J Risch
The role of the DYT1 gene in secondary dystonia.
Advances in neurology 1998;78():107-15.
1998: Laurie J Ozelius; Jeffrey W Hewett; CE Page; Susan Bressman; Patricia L Kramer; Christo Shalish; Deborah de Leon; Mitchell F Brin; Deborah Raymond; D Jacoby; John B Penney; Neil J Risch; Stanley Fahn; James Gusella; Xandra O Breakefield
The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family.
Advances in neurology 1998;78():93-105.
1998: Susan Bressman; Deborah de Leon; Deborah Raymond; Laurie J Ozelius; Xandra O Breakefield; TG Nygaard; Laura A Almasy; Neil J Risch; Patricia L Kramer
Clinical-genetic spectrum of primary dystonia.
Advances in neurology 1998;78():79-91.
1997: Laura A Almasy; Susan Bressman; Deborah Raymond; Patricia L Kramer; Paul Greene; Gary A Heiman; Blair Ford; J Yount; Deborah de Leon; S Chouinard; Rachel Saunders-Pullman; Mitchell F Brin; R P Kapoor; A C Jones; H Shen; Stanley Fahn; Neil J Risch; TG Nygaard
Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.
Annals of neurology 1997;42(4):670-3.
1997: Laura A Almasy; Susan Bressman; Deborah de Leon; Neil Risch
Ethnic variation in the clinical expression of idiopathic torsion dystonia.
Movement disorders : official journal of the Movement Disorder Society 1997;12(5):715-21.
1997: Laurie J Ozelius; Jeffrey W Hewett; CE Page; Susan Bressman; Patricia L Kramer; Christo Shalish; Deborah de Leon; Mitchell F Brin; Deborah Raymond; David P Corey; Stanley Fahn; Neil J Risch; AJ Buckler; James Gusella; Xandra O Breakefield
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.
Nature genetics 1997;17(1):40-8.
1997: Susan Bressman; Deborah de Leon; Deborah Raymond; Paul Greene; Mitchell F Brin; Stanley Fahn; Laurie J Ozelius; Xandra O Breakefield; Patricia L Kramer; Neil J Risch
Secondary dystonia and the DYTI gene.
Neurology 1997;48(6):1571-7.
1997: Laurie J Ozelius; Jeffrey W Hewett; Patricia L Kramer; Susan Bressman; Christo Shalish; Deborah de Leon; M Rutter; Neil Risch; Mitchell F Brin; Elena D Markova; Svetlana A Limborska; Irina A Ivanova-Smolenskaya; M K McCormick; Stanley Fahn; AJ Buckler; James Gusella; Xandra O Breakefield
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.
Genome research 1997;7(5):483-94.
1996: Susan Bressman; T T Warner; Laura A Almasy; Ryan Uitti; Paul Greene; Gary A Heiman; Deborah Raymond; Blair Ford; Deborah de Leon; Stanley Fahn; Patricia L Kramer; N J Risch; Demetrius M Maraganore; TG Nygaard; A E Harding
Exclusion of the DYT1 locus in familial torticollis.
Annals of neurology 1996;40(4):681-4.
1995: M F Gordon; Susan Bressman; Mitchell F Brin; Deborah de Leon; D Warburton; K Yeboa; Stanley Fahn
Dystonia in a patient with deletion of 18q.
Movement disorders : official journal of the Movement Disorder Society 1995;10(4):496-9.
1995: N Risch; Deborah de Leon; Laurie J Ozelius; Patricia L Kramer; Laura A Almasy; B Singer; Stanley Fahn; X Breakefield; Susan Bressman
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.
Nature genetics 1995;9(2):152-9.
1994: Susan Bressman; Deborah de Leon; Patricia L Kramer; Laurie J Ozelius; Mitchell F Brin; Paul Greene; Stanley Fahn; Xandra O Breakefield; N J Risch
Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation.
Annals of neurology 1994;36(5):771-7.
1994: Susan Bressman; A L Hunt; Gary A Heiman; Mitchell F Brin; Robert E Burke; Stanley Fahn; JM Trugman; Deborah de Leon; Patricia L Kramer; Kirk Wilhelmsen
Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.
Movement disorders : official journal of the Movement Disorder Society 1994;9(6):626-32.
1994: Patricia L Kramer; Gary A Heiman; T Gasser; Laurie J Ozelius; Deborah de Leon; Mitchell F Brin; Robert E Burke; J Hewett; A L Hunt; C Moskowitz
The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.
American journal of human genetics 1994;55(3):468-75.
1994: Susan Bressman; Gary A Heiman; TG Nygaard; Laurie J Ozelius; A L Hunt; Mitchell F Brin; M F Gordon; C B Moskowitz; Deborah de Leon; Robert E Burke
A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.
Neurology 1994;44(2):283-7.
1992: Laurie J Ozelius; Patricia L Kramer; Deborah de Leon; N Risch; Susan Bressman; D E Schuback; Mitchell F Brin; David J Kwiatkowski; Robert E Burke; James Gusella
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
American journal of human genetics 1992;50(3):619-28.
1991: Deborah de Leon; C B Moskowitz; C Stewart
Proposed guidelines for videotaping individuals with movement disorders.
The Journal of neuroscience nursing : journal of the American Association of Neuroscience Nurses 1991;23(3):191-3.
1990: Patricia L Kramer; Deborah de Leon; Laurie J Ozelius; N Risch; Susan Bressman; Mitchell F Brin; D E Schuback; Robert E Burke; David J Kwiatkowski; H Shale
Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34.
Annals of neurology 1990;27(2):114-20.
1990: Deborah de Leon; A Lustenberger
Issues raised in gene linkage studies.
Birth defects original article series 1990;26(3):217-25.
1989: Susan Bressman; Deborah de Leon; Mitchell F Brin; N Risch; Robert E Burke; Paul Greene; H Shale; Stanley Fahn
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritance.
Annals of neurology 1989;26(5):612-20.
1989: Laurie J Ozelius; Patricia L Kramer; C B Moskowitz; David J Kwiatkowski; Mitchell F Brin; Susan Bressman; D E Schuback; Catherine T Falk; N Risch; Deborah de Leon
Human gene for torsion dystonia located on chromosome 9q32-q34.
Neuron 1989;2(5):1427-34.
1988: Susan Bressman; Deborah de Leon; Mitchell F Brin; N Risch; H Shale; Robert E Burke; Paul Greene; Stanley Fahn
Inheritance of idiopathic torsion dystonia among Ashkenazi Jews.
Advances in neurology 1988;50():45-56.