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Rachel Saunders-Pullman

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M J Barrett; Susan Bressman; A Deik; Vijay Dhawan; David Eidelberg; Susan J Gross; J Hagenah; Karen Marder; A Mirelman; Laurie J Ozelius; S Peng; Deborah Raymond; Rachel Saunders-Pullman; Nicole Schreiber-Agus; K Stanley
Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.
Maren Carbon; Vijay Dhawan; Susan Bressman; Steven Frucht; Laurie J Ozelius; Deborah Raymond; Rachel Saunders-Pullman; David Eidelberg
Metabolic changes in DYT11 myoclonus-dystonia.
Tania Fuchs; Denis Hervé; Anthony E Lang; Tsao-Wei Liang; Marta San Luciano; Kirill A Martemyanov; Ikuo Masuho; Edmond Ainehsazan; Susan Bressman; Michelle E Ehrlich; Stewart Factor; Deborah Raymond; Rachel Saunders-Pullman; Nutan Sharma; Richard M Trosch; Sierra White; Laurie J Ozelius
Mutations in GNAL cause primary torsion dystonia.

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All Publications

2013: M J Barrett; Susan Bressman; A Deik; Vijay Dhawan; David Eidelberg; Susan J Gross; J Hagenah; Karen Marder; A Mirelman; Laurie J Ozelius; S Peng; Deborah Raymond; Rachel Saunders-Pullman; Nicole Schreiber-Agus; K Stanley
Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease.
Parkinsonism & related disorders 2013;19(2):186-91.
2013: Maren Carbon; Vijay Dhawan; Susan Bressman; Steven Frucht; Laurie J Ozelius; Deborah Raymond; Rachel Saunders-Pullman; David Eidelberg
Metabolic changes in DYT11 myoclonus-dystonia.
Neurology 2013;80(4):385-91.
2013: Tania Fuchs; Denis Hervé; Anthony E Lang; Tsao-Wei Liang; Marta San Luciano; Kirill A Martemyanov; Ikuo Masuho; Edmond Ainehsazan; Susan Bressman; Michelle E Ehrlich; Stewart Factor; Deborah Raymond; Rachel Saunders-Pullman; Nutan Sharma; Richard M Trosch; Sierra White; Laurie J Ozelius
Mutations in GNAL cause primary torsion dystonia.
Nature genetics 2013;45(1):88-92.
2012: Andres Deik; Rachel Saunders-Pullman; Marta San Luciano
Substance abuse and movement disorders: complex interactions and comorbidities.
Current drug abuse reviews 2012;5(3):243-53.
2012: Eduardo López-Laso; Thomas Opladen; Rafael Artuch; Katrin Beyer; Rachel Saunders-Pullman
Dyskinesias as a limiting factor in the treatment of Segawa disease.
Pediatric neurology 2012;46(6):404-6.
2012: Rachel Saunders-Pullman; K Stanley; A J Stoessl; R Uitti; K Nakamura; R Gatti; J Hagenah; D Hobson; Daniel Lefton; T Nakamura; M S Okun; L J Ozelius; Seth L Pullman; D Raymond; Rivka Sachdev; M San Luciano; Susan Bressman
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.
Neurology 2012;78(9):649-57.
2012: Fedor Panov; Tania Fuchs; Donald Weisz; Tyler Cheung; Laurie J Ozelius; Rachel Saunders-Pullman; Michele Tagliati; Yakov Gologorsky; Susan Bressman; Marat Avshalumov; Ron L Alterman
Pallidal deep brain stimulation for DYT6 dystonia.
Journal of neurology, neurosurgery, and psychiatry 2012;83(2):182-7.
2012: M San Luciano; D Raymond; Susan Bressman; richard lipton; L Ozelius; Rachel Saunders-Pullman
Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease.
Neuroscience letters 2012;506(2):312-6.
2012: Andres F Deik; Marta San Luciano; Sean O'Riordan; Deborah Raymond; Susan Bressman; Vicki Shanker; Rachel Saunders-Pullman
Spatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers.
Tremor and other hyperkinetic movements (New York, N.Y.) 2012;2():.
2011: Vicki Shanker; Gary Heiman; Laurie Ozelius; Rachel Saunders-Pullman; Mark Groves; Christina Palmese; Deborah Raymond; Susan Bressman
Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2011;26(10):1875-80.
2011: Rachel Saunders-Pullman; Kaili Stanley; Jose Cabassa; Laurie J Ozelius; Deborah Raymond; Marta San Luciano; Susan Bressman
LRRK2 G2019S mutations may be increased in Puerto Ricans.
Movement disorders : official journal of the Movement Disorder Society 2011;26(9):1772-3.
2011: Rachel Saunders-Pullman; L Severt; Vicki Shanker; K Stanley; Cuiling Wang; A Hunt; richard lipton; Laurie J Ozelius; Deborah Raymond; M San Luciano; Susan Bressman
Olfactory dysfunction in LRRK2 G2019S mutation carriers.
Neurology 2011;77(4):319-24.
2011: Rachel Saunders-Pullman; Kaili Stanley; Cuiling Wang; Susan Bressman
Diagnosis and referral delay in women with Parkinson's disease.
Gender medicine 2011;8(3):209-17.
2011: Rachel Saunders-Pullman; K Stanley; M J Barrett; Vicki Shanker; Deborah Raymond; Laurie J Ozelius; M San Luciano; Susan Bressman
Gender differences in the risk of familial parkinsonism: beyond LRRK2?
Neuroscience letters 2011;496(2):125-8.
2011: Molly Zimmerman; richard lipton; Nanette Santoro; Daniel S McConnell; Carol A Derby; Mindy Katz; Khosrow Baigi; Rachel Saunders-Pullman
Endogenous estradiol is associated with verbal memory in nondemented older men.
Brain and cognition 2011;76(1):158-65.
2011: Norbert Brüggemann; Johann Hagenah; Kaili Stanley; Christine Klein; Cuiling Wang; Deborah Raymond; Laurie Ozelius; Susan Bressman; Rachel Saunders-Pullman
Substantia nigra hyperechogenicity with LRRK2 G2019S mutations.
Movement disorders : official journal of the Movement Disorder Society 2011;26(5):885-8.
2011: Alexander Schmidt; Hans-Christian Jabusch; Eckart Altenmüller; Leonie Enders; Rachel Saunders-Pullman; Susan Bressman; Alexander Münchau; Christine Klein; Johann Hagenah
Phenotypic spectrum of musician's dystonia: a task-specific disorder?
Movement disorders : official journal of the Movement Disorder Society 2011;26(3):546-9.
2010: Rachel Saunders-Pullman; Matthew J Barrett; Kaili M Stanley; Marta San Luciano; Vicki Shanker; Lawrence Severt; Ann Hunt; Deborah Raymond; Laurie J Ozelius; Susan Bressman
LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease.
Movement disorders : official journal of the Movement Disorder Society 2010;25(15):2536-41.
2010: Marta San Luciano; richard lipton; Cuiling Wang; Mindy Katz; Molly Zimmerman; Amy Sanders; Laurie J Ozelius; Susan Bressman; Rachel Saunders-Pullman
Clinical expression of LRRK2 G2019S mutations in the elderly.
Movement disorders : official journal of the Movement Disorder Society 2010;25(15):2571-6.
2010: Nutan Sharma; Ramon A Franco; John K Kuster; Adele A Mitchell; Tania Fuchs; Rachel Saunders-Pullman; Deborah Raymond; Mitchell F Brin; Andrew Blitzer; Susan Bressman; Laurie J Ozelius
Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.
Movement disorders : official journal of the Movement Disorder Society 2010;25(13):2183-7.
2010: Rachel Saunders-Pullman; Johann Hagenah; Vijay Dhawan; Kaili Stanley; Gregory Pastores; Swati Sathe; Michele Tagliati; Kelly Condefer; Christina Palmese; Norbert Brüggemann; Christine Klein; Anne Marie Andersen Roe; Ruth Kornreich; Laurie J Ozelius; Susan Bressman
Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.
Movement disorders : official journal of the Movement Disorder Society 2010;25(10):1364-72.
2010: Rachel Saunders-Pullman; Kaili Stanley; Norbert Brüggemann; Deborah Raymond; Marta San Luciano; Cuiling Wang; Christine Klein; Naomi Lubarr; Laurie Ozelius; Susan Bressman; Johann Hagenah
Substantia nigra hyperechogenicity in DYT6 dystonia: a pilot study.
Parkinsonism & related disorders 2010;16(6):420-2.
2010: Johann Hagenah; Inke R König; Jürgen Sperner; Lucas Wessel; Günter Seidel; Kelly Condefer; Rachel Saunders-Pullman; Christine Klein; Norbert Brüggemann
Life-long increase of substantia nigra hyperechogenicity in transcranial sonography.
NeuroImage 2010;51(1):28-32.
2010: M Walter; Michael Bonin; Rachel Saunders-Pullman; E M Valente; M Loi; M Gambarin; D Raymond; M Tinazzi; Christoph Kamm; N Glöckle; Sven Poths; Thomas Gasser; Susan Bressman; Christine Klein; L J Ozelius; Olaf Riess; Kathrin Grundmann
Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia.
Neurobiology of disease 2010;38(2):192-200.
2010: Kaili Stanley; Johann Hagenah; Norbert Brüggemann; Kathrin Reetz; Lawrence Severt; Christine Klein; Qiping Yu; Carol A Derby; Seth Pullman; Rachel Saunders-Pullman
Digitized spiral analysis is a promising early motor marker for Parkinson Disease.
Parkinsonism & related disorders 2010;16(3):233-4.
2010: Monica M Kurtis; Marta San Luciano; Qiping Yu; Robert R Goodman; Blair Ford; Deborah Raymond; Seth L Pullman; Rachel Saunders-Pullman
Clinical and neurophysiological improvement of SGCE myoclonus-dystonia with GPi deep brain stimulation.
Clinical neurology and neurosurgery 2010;112(2):149-52.
2009: Marta San Luciano; Rachel Saunders-Pullman
Substance abuse and movement disorders.
Current drug abuse reviews 2009;2(3):273-8.
2009: Rachel Saunders-Pullman; Richard Gatti
Ataxia-telangiectasia: without ataxia or telangiectasia?
Neurology 2009;73(6):414-5.
2009: Susan Bressman; Deborah Raymond; Tania Fuchs; Gary A Heiman; Laurie J Ozelius; Rachel Saunders-Pullman
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Lancet neurology 2009;8(5):441-6.
2009: A Schmidt; Hans-Christian Jabusch; Eckart Altenmüller; Johann Hagenah; N Brüggemann; K Lohmann; L Enders; Patricia L Kramer; Rachel Saunders-Pullman; Susan Bressman; Alexander Münchau; Christine Klein
Etiology of musician's dystonia: familial or environmental?
Neurology 2009;72(14):1248-54.
2009: Tania Fuchs; Sophie Gavarini; Rachel Saunders-Pullman; Deborah Raymond; Michelle E Ehrlich; Susan Bressman; Laurie J Ozelius
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Nature genetics 2009;41(3):286-8.
2009: Marta San Luciano; Laurie J Ozelius; Katherine Sims; Deborah Raymond; Liu Liu; Rachel Saunders-Pullman
Responsiveness to levodopa in epsilon-sarcoglycan deletions.
Movement disorders : official journal of the Movement Disorder Society 2009;24(3):425-8.
2008: Deborah Raymond; Rachel Saunders-Pullman; Patricia de Carvalho Aguiar; Birgitt Schule; Norman Kock; Jennifer Friedman; Juliette Harris; Blair Ford; Steven Frucht; Gary A Heiman; Danna Jennings; Dana Doheny; Mitchell F Brin; Deborah de Leon Brin; Trisha Multhaupt-Buell; Anthony E Lang; Roger Kurlan; Christine Klein; Laurie J Ozelius; Susan Bressman
Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations.
Movement disorders : official journal of the Movement Disorder Society 2008;23(4):588-92.
2008: Rachel Saunders-Pullman; Carol A Derby; Kaili Stanley; Alicia Floyd; Susan Bressman; richard lipton; Amanda Deligtisch; Lawrence Severt; Qiping Yu; Mónica Kurtis; Seth L Pullman
Validity of spiral analysis in early Parkinson's disease.
Movement disorders : official journal of the Movement Disorder Society 2008;23(4):531-7.
2008: Mikhail B Bogdanov; Wayne R Matson; Lei Wang; Theodore Matson; Rachel Saunders-Pullman; Susan Bressman; M Flint Beal
Metabolomic profiling to develop blood biomarkers for Parkinson's disease.
Brain : a journal of neurology 2008;131(Pt 2):389-96.
2007: Rachel Saunders-Pullman; Deborah Raymond; Geetha Senthil; Patricia L Kramer; Erin Ohmann; Amanda Deligtisch; Vicki Shanker; Paul Greene; Rowena Tabamo; Neng Huang; Michele Tagliati; Patricia Kavanagh; Jeannie Soto-Valencia; Patricia de Carvalho Aguiar; Neil Risch; Laurie J Ozelius; Susan Bressman
Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish-Mennonites.
American journal of medical genetics. Part A 2007;143A(18):2098-105.
2007: Gary A Heiman; Ruth Ottman; Rachel Saunders-Pullman; Laurie J Ozelius; Neil J Risch; Susan Bressman
Obsessive-compulsive disorder is not a clinical manifestation of the DYT1 dystonia gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):361-4.
2007: Allison Brashear; William B Dobyns; Patricia de Carvalho Aguiar; Michel Borg; C J M Frijns; Seema Gollamudi; Andrew Green; João Guimaraes; Bret C Haake; Christine Klein; Gurutz Linazasoro; Alexander Münchau; Deborah Raymond; David Riley; Rachel Saunders-Pullman; Marina A J Tijssen; David Webb; Jacek Zaremba; Susan Bressman; Laurie J Ozelius
The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.
Brain : a journal of neurology 2007;130(Pt 3):828-35.
2007: C W Hess; Deborah Raymond; Patricia de Carvalho Aguiar; S Frucht; Janet Shriberg; Gary A Heiman; Roger Kurlan; Christine Klein; Susan Bressman; Laurie J Ozelius; Rachel Saunders-Pullman
Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers.
Neurology 2007;68(7):522-4.
2006: A Schmidt; Hans-Christian Jabusch; Eckart Altenmüller; Johann Hagenah; N Brüggemann; Katja Hedrich; Rachel Saunders-Pullman; Susan Bressman; Patricia L Kramer; Christine Klein
Dominantly transmitted focal dystonia in families of patients with musician's cramp.
Neurology 2006;67(4):691-3.
2006: Rachel Saunders-Pullman; richard lipton; Geetha Senthil; Mindy Katz; Camille Costan-Toth; Carol A Derby; Susan Bressman; Joe Verghese; Laurie J Ozelius
Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia.
Neuroscience letters 2006;402(1-2):92-6.
2006: Christopher W Hess; Rachel Saunders-Pullman
Movement disorders and alcohol misuse.
Addiction biology 2006;11(2):117-25.
2006: Laurie J Ozelius; Geetha Senthil; Rachel Saunders-Pullman; Erin Ohmann; Amanda Deligtisch; Michele Tagliati; Ann L Hunt; Christine Klein; Brian Henick; Susan M Hailpern; richard lipton; Jeannie Soto-Valencia; Neil Risch; Susan Bressman
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.
The New England journal of medicine 2006;354(4):424-5.
2005: J P O'Dwyer; Sean O'Riordan; Rachel Saunders-Pullman; Susan Bressman; F Molloy; Timothy Lynch; Michael Hutchinson
Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.
Neurology 2005;65(6):938-40.
2005: Rachel Saunders-Pullman; Jeannie Soto-Valencia; C Costan-Toth; Janet Shriberg; Deborah Raymond; Carol A Derby; richard lipton; Susan Bressman
A new screening tool for cervical dystonia.
Neurology 2005;64(12):2046-9.
2005: Johann Hagenah; Rachel Saunders-Pullman; Katja Hedrich; Kemal Kabakci; K Habermann; Karin Wiegers; Kathrin Mohrmann; Thora Lohnau; Deborah Raymond; Peter Vieregge; TG Nygaard; Laurie J Ozelius; Susan Bressman; Christine Klein
High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening.
Neurology 2005;64(5):908-11.
2004: Rachel Saunders-Pullman; N Blau; Keith Hyland; J Zschocke; TG Nygaard; Deborah Raymond; Vicki Shanker; Kathrin Mohrmann; L Arnold; SD Tabbal; D DeLeon; Blair Ford; Mitchell F Brin; S Chouinard; Laurie J Ozelius; Christine Klein; Susan Bressman
Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test.
Molecular genetics and metabolism 2004;83(3):207-12.
2004: Sean O'Riordan; Deborah Raymond; Timothy Lynch; Rachel Saunders-Pullman; Susan Bressman; Leslie Daly; Michael Hutchinson
Age at onset as a factor in determining the phenotype of primary torsion dystonia.
Neurology 2004;63(8):1423-6.
2004: Gary A Heiman; Ruth Ottman; Rachel Saunders-Pullman; Laurie J Ozelius; Neil J Risch; Susan Bressman
Increased risk for recurrent major depression in DYT1 dystonia mutation carriers.
Neurology 2004;63(4):631-7.
2004: Rachel Saunders-Pullman; Janet Shriberg; Vicki Shanker; Susan Bressman
Penetrance and expression of dystonia genes.
Advances in neurology 2004;94():121-5.
2003: Rachel Saunders-Pullman
Estrogens and Parkinson disease: neuroprotective, symptomatic, neither, or both?
Endocrine 2003;21(1):81-7.
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: 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.
2002: Rachel Saunders-Pullman; Janet Shriberg; Gary A Heiman; Deborah Raymond; K Wendt; Patricia L Kramer; Karla Schilling; Roger Kurlan; Christine Klein; Laurie J Ozelius; Neil J Risch; Susan Bressman
Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence.
Neurology 2002;58(2):242-5.
2002: Rachel Saunders-Pullman; Laurie J Ozelius; Susan Bressman
Inherited myoclonus-dystonia.
Advances in neurology 2002;89():185-91.
2000: Christine Klein; Karla Schilling; Rachel Saunders-Pullman; Jennifer Garrels; Xandra O Breakefield; Mitchell F Brin; D DeLeon; Dana Doheny; Stanley Fahn; J S Fink; Lars Forsgren; Jennifer Friedman; S Frucht; Juliette Harris; Gösta Holmgren; Bernhard Kis; Roger Kurlan; M Kyllerman; Anthony E Lang; Joanne Leung; Deborah Raymond; J D Robishaw; G Sanner; Eberhard Schwinger; Rowena Tabamo; Michele Tagliati
A major locus for myoclonus-dystonia maps to chromosome 7q in eight families.
American journal of human genetics 2000;67(5):1314-9.
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: TG Nygaard; Deborah Raymond; C Chen; Ichizo Nishino; Paul Greene; D Jennings; Gary A Heiman; Christine Klein; Rachel Saunders-Pullman; Patricia L Kramer; Laurie J Ozelius; Susan Bressman
Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31.
Annals of neurology 1999;46(5):794-8.
1999: Rachel Saunders-Pullman; I Braun; Susan Bressman
Pediatric movement disorders.
Child and adolescent psychiatric clinics of North America 1999;8(4):747-65, viii.
1999: Rachel Saunders-Pullman; J Gordon-Elliott; M Parides; Stanley Fahn; H R Saunders; Susan Bressman
The effect of estrogen replacement on early Parkinson's disease.
Neurology 1999;52(7):1417-21.
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.