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Laurie Ozelius

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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: Allison Brashear; Deborah F Hill; Laney S Light; W Vaughn McCall; Jonathan W Mink; Laurie J Ozelius; Beverly M Snively; Mark A Stacy; Kathleen J Sweadner; Niki Boggs; Leslie Morrison
ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.
Developmental medicine and child neurology 2012;54(11):1065-7.
2012: Laurie J Ozelius
Clinical spectrum of disease associated with ATP1A3 mutations.
Lancet neurology 2012;11(9):741-3.
2012: Fu Bo Cheng; Jia Chun Feng; Ling Yan Ma; Laurie J Ozelius; Xin Hua Wan; Ying Mai Yang; Lin Wang
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Journal of neurology 2012;259(2):342-7.
2012: Ioanna A Armata; Andreas I Diplas; Laurie J Ozelius; Pullanipally Shashidharan
Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion.
Journal of nucleic acids 2012;2012():985260.
2011: Tania Fuchs; Laurie J Ozelius
Genetics of dystonia.
Seminars in neurology 2011;31(5):441-8.
2011: Cem Sengel; Nutan Sharma; Sophie Gavarini; Laurie J Ozelius; D Cristopher Bragg
Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.
Journal of neurochemistry 2011;118(6):1087-100.
2011: Nutan Sharma; Ioanna A Armata; Trisha J Multhaupt-Buell; Laurie J Ozelius; Winnie Xin; Katherine B Sims
Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia.
Movement disorders : official journal of the Movement Disorder Society 2011;26(11):2140-1.
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; 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: Laurie J Ozelius; Naomi Lubarr; Susan Bressman
Milestones in dystonia.
Movement disorders : official journal of the Movement Disorder Society 2011;26(6):1106-26.
2011: Laurie J Ozelius; Susan Bressman
Genetic and clinical features of primary torsion dystonia.
Neurobiology of disease 2011;42(2):127-35.
2010: Patricia de Carvalho Aguiar; Tania Fuchs; Vanderci Borges; Kay-Marie Lamar; Sonia Maria de Azevedo Silva; Henrique Ballalai Ferraz; Laurie J Ozelius
Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion.
Movement disorders : official journal of the Movement Disorder Society 2010;25(16):2854-7.
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: Sophie Gavarini; Corinne Cayrol; Tania Fuchs; Natalia Lyons; Michelle E Ehrlich; Jean-Philippe Girard; Laurie J Ozelius
Direct interaction between causative genes of DYT1 and DYT6 primary dystonia.
Annals of neurology 2010;68(4):549-53.
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: Marina Svetel; Laurie J Ozelius; Amber Buckley; Katja Lohmann; Lela Brajković; Christine Klein; Vladimir S Kostić
Rapid-onset dystonia-parkinsonism: case report.
Journal of neurology 2010;257(3):472-4.
2010: Roee Holtzer; Laurie J Ozelius; Xiaonan Xue; Tao Wang; richard lipton; Joe Verghese
Differential effects of COMT on gait and executive control in aging.
Neurobiology of aging 2010;31(3):523-31.
2010: Laurie J Ozelius; Susan Bressman
THAP1: role in focal dystonia?
Neurology 2010;74(3):192-3.
2009: Ana Djarmati; Susanne A Schneider; Katja Lohmann; Susen Winkler; Heike Pawlack; Johann Hagenah; Norbert Brüggemann; Simone Zittel; Tania Fuchs; Aleksandar Raković; Alexander Schmidt; Hans-Christian Jabusch; Robert Wilcox; Vladimir S Kostić; Hartwig R Siebner; Eckart Altenmüller; Alexander Münchau; Laurie J Ozelius; Christine Klein
Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.
Lancet neurology 2009;8(5):447-52.
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: Alexis M Kuncel; Dennis A Turner; Laurie J Ozelius; Paul E Greene; Warren M Grill; Mark Stacy
Myoclonus and tremor response to thalamic deep brain stimulation parameters in a patient with inherited myoclonus-dystonia syndrome.
Clinical neurology and neurosurgery 2009;111(3):303-6.
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: Paolo Zanotti Fregonara; Marie Vidailhet; Aurélie Kas; Laurie J Ozelius; Fabienne Clot; Elif Hindié; Laura Ravasi; Jean-Yves Devaux; Emmanuel Roze
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism.
Journal of the neurological sciences 2008;273(1-2):148-51.
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: Anne Grünewald; Ana Djarmati; Katja Lohmann-Hedrich; K Farrell; J A Zeller; Niels Allert; F Papengut; B Petersen; Victor S C Fung; C M Sue; D O'Sullivan; N Mahant; Andreas Kupsch; R S Chuang; Karin Wiegers; H Pawlack; Johann Hagenah; Laurie J Ozelius; Ulrich Stephani; Robert Schuit; Anthony E Lang; Jens Volkmann; Alexander Münchau; Christine Klein
Myoclonus-dystonia: significance of large SGCE deletions.
Human mutation 2008;29(2):331-2.
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: Jee-Young Lee; Seema Gollamudi; Laurie J Ozelius; Ji-Young Kim; Beom S Jeon
ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2007;22(12):1808-9.
2007: McKeon Andrew; Laurie J Ozelius; Orla Hardiman; Matthew J Greenway; Sean J Pittock
Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.
Movement disorders : official journal of the Movement Disorder Society 2007;22(9):1325-7.
2007: Vanderci Borges; Patricia de Carvalho Aguiar; Henrique Ballalai Ferraz; Laurie J Ozelius
Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.
Movement disorders : official journal of the Movement Disorder Society 2007;22(8):1208-9.
2007: Neil J Risch; Susan Bressman; Geetha Senthil; Laurie J Ozelius
Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia.
American journal of human genetics 2007;80(6):1188-93.
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: Laurie J Ozelius; Tatiana Foroud; Susanne May; Geetha Senthil; Paola Sandroni; Phillip A Low; Stephen G Reich; Amy Colcher; Matthew B Stern; William G Ondo; Joseph Jankovic; Neng Huang; Caroline M Tanner; Peter Novak; Sid Gilman; Frederick John Marshall; G Frederick Wooten; Thomas C Chelimsky; Clifford W Shults
G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
Movement disorders : official journal of the Movement Disorder Society 2007;22(4):546-9.
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: 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: Zeguo Zhao; Bisram Deocharan; Philipp E Scherer; Laurie J Ozelius; Chaim Putterman
Differential binding of cross-reactive anti-DNA antibodies to mesangial cells: the role of alpha-actinin.
Journal of immunology (Baltimore, Md. : 1950) 2006;176(12):7704-14.
2006: Norman Kock; Teresa V Naismith; Heather Boston; Laurie J Ozelius; David P Corey; Xandra O Breakefield; Phyllis I Hanson
Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier.
Human molecular genetics 2006;15(8):1355-64.
2006: M C F Gerrits; E M J Foncke; Rob J De Haan; Katja Hedrich; Y L C van de Leemput; Frank Baas; Laurie J Ozelius; Johannes D Speelman; Christine Klein; Marina A J Tijssen
Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia.
Neurology 2006;66(5):759-61.
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: Sid Gilman; S J May; Clifford W Shults; Caroline M Tanner; Walter A Kukull; Virginia M-Y Lee; Eliezer Masliah; Phillip Low; Paola Sandroni; John Q Trojanowski; Laurie J Ozelius; Tatiana Foroud
The North American Multiple System Atrophy Study Group.
Journal of neural transmission (Vienna, Austria : 1996) 2005;112(12):1687-94.
2005: Kemal Kabakci; K Isbruch; Karla Schilling; Katja Hedrich; Patricia de Carvalho Aguiar; Laurie J Ozelius; Patricia L Kramer; M H R M Schwarz; Christine Klein
Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family.
Journal of neurology, neurosurgery, and psychiatry 2005;76(6):860-2.
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: Jacek Zaremba; Hanna Mierzewska; Zofia Lysiak; Patricia L Kramer; Laurie J Ozelius; Allison Brashear
Rapid-onset dystonia-parkinsonism: a fourth family consistent with linkage to chromosome 19q13.
Movement disorders : official journal of the Movement Disorder Society 2004;19(12):1506-10.
2004: Sean O'Riordan; Laurie J Ozelius; Patricia de Carvalho Aguiar; Michael Hutchinson; Mary King; Timothy Lynch
Inherited myoclonus-dystonia and epilepsy: further evidence of an association?
Movement disorders : official journal of the Movement Disorder Society 2004;19(12):1456-9.
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: Katja Hedrich; Cordula Eskelson; Beth Wilmot; Karen Marder; Juliette Harris; Jennifer Garrels; Helen Meija-Santana; Peter Vieregge; Helfried Jacobs; Susan Bressman; Anthony E Lang; Martin Kann; Giovanni Abbruzzese; Paolo Martinelli; Eberhard Schwinger; Laurie J Ozelius; Peter P Pramstaller; Christine Klein; Patricia L Kramer
Distribution, type, and origin of Parkin mutations: review and case studies.
Movement disorders : official journal of the Movement Disorder Society 2004;19(10):1146-57.
2004: Patricia de Carvalho Aguiar; Melissa Fazzari; Joseph Jankovic; Laurie J Ozelius
Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder.
Movement disorders : official journal of the Movement Disorder Society 2004;19(10):1237-8.
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: Birgitt Schuele; Norman Kock; Marina Svetel; Natasa Dragasevic; Katja Hedrich; Patricia de Carvalho Aguiar; Liu Liu; Kemal Kabakci; Jennifer Garrels; E-M Meyer; I Berisavac; Eberhard Schwinger; Patricia L Kramer; Laurie J Ozelius; Christine Klein; Vladimir Kostic
Genetic heterogeneity in ten families with myoclonus-dystonia.
Journal of neurology, neurosurgery, and psychiatry 2004;75(8):1181-5.
2004: Patricia de Carvalho Aguiar; Kathleen J Sweadner; John Penniston; Jacek Zaremba; Liu Liu; Marsha Caton; Gurutz Linazasoro; Michel Borg; Marina A J Tijssen; Susan Bressman; William B Dobyns; Allison Brashear; Laurie J Ozelius
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Neuron 2004;43(2):169-75.
2004: Christoph Kamm; Joanne Leung; Soni Joseph; William B Dobyns; Allison Brashear; Xandra O Breakefield; Laurie J Ozelius
Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene.
Movement disorders : official journal of the Movement Disorder Society 2004;19(7):845-7.
2004: Jeffrey W Hewett; Christoph Kamm; Heather Boston; Roberta L Beauchamp; Teresa V Naismith; Laurie J Ozelius; Phyllis I Hanson; Xandra O Breakefield; Vijaya Ramesh
TorsinB--perinuclear location and association with torsinA.
Journal of neurochemistry 2004;89(5):1186-94.
2004: Katja Hedrich; E-M Meyer; Birgitt Schuele; Norman Kock; Patricia de Carvalho Aguiar; Karin Wiegers; J H T M Koelman; Jennifer Garrels; R Dürr; Liu Liu; Eberhard Schwinger; Laurie J Ozelius; B Landwehrmeyer; A Jon Stoessl; Marina A J Tijssen; Christine Klein
Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.
Neurology 2004;62(7):1229-31.
2004: Kemal Kabakci; Katja Hedrich; J C Leung; Manfred Mitterer; Peter Vieregge; Rebekka Lencer; Johann Hagenah; Jennifer Garrels; K Witt; F Klostermann; Marina Svetel; Jennifer Friedman; Vladimir Kostic; Susan Bressman; Xandra O Breakefield; Laurie J Ozelius; Peter P Pramstaller; Christine Klein
Mutations in DYT1: extension of the phenotypic and mutational spectrum.
Neurology 2004;62(3):395-400.
2004: Katja Hedrich; Ana Djarmati; Nora Schäfer; Robert Hering; Claudia Wellenbrock; Peter H Weiss; Rüdiger Hilker; Peter Vieregge; Laurie J Ozelius; Peter Heutink; Vincenzo Bonifati; Eberhard Schwinger; Anthony E Lang; J Noth; Susan Bressman; Peter P Pramstaller; Olaf Riess; Christine Klein
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.
Neurology 2004;62(3):389-94.
2004: Katja Hedrich; Nora Schäfer; Robert Hering; Johann Hagenah; Andrea J Lanthaler; Eberhard Schwinger; Patricia L Kramer; Laurie J Ozelius; Susan Bressman; Giovanni Abbruzzese; Paolo Martinelli; Vladimir Kostic; Peter P Pramstaller; Peter Vieregge; Olaf Riess; Christine Klein
The R98Q variation in DJ-1 represents a rare polymorphism.
Annals of neurology 2004;55(1):145; author reply 145-6.
2004: Laurie J Ozelius
Update on the genetics of primary torsion dystonia loci DYT6, DYT7, and DYT13 and the dystonia-plus locus DYT12.
Advances in neurology 2004;94():109-12.
2003: Christine Klein; Katja Hedrich; Claudia Wellenbrock; Martin Kann; Juliette Harris; Karen Marder; Anthony E Lang; Eberhard Schwinger; Laurie J Ozelius; Peter Vieregge; Peter P Pramstaller; Patricia L Kramer
Frequency of parkin mutations in late-onset Parkinson's disease.
Annals of neurology 2003;54(3):415-6; author reply 416-7.
2003: E M J Foncke; Christine Klein; J H T M Koelman; Patricia L Kramer; Karla Schilling; Birgitt Müller; Jennifer Garrels; Patricia de Carvalho Aguiar; Liu Liu; A de Froe; Johannes D Speelman; Laurie J Ozelius; Marina A J Tijssen
Hereditary myoclonus-dystonia associated with epilepsy.
Neurology 2003;60(12):1988-90.
2003: Jeffrey W Hewett; Philipp Ziefer; Daniele Bergeron; Teresa V Naismith; Heather Boston; Damien Slater; Jeremy Wilbur; Deborah Schuback; Christoph Kamm; Nicole Smith; Sara M Camp; Laurie J Ozelius; Vijaya Ramesh; Phyllis I Hanson; Xandra O Breakefield
TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress.
Journal of neuroscience research 2003;72(2):158-68.
2003: Kevin Rostasy; Sarah J Augood; Jeffrey W Hewett; Joanne Chung-on Leung; Hikaru Sasaki; Laurie J Ozelius; Vijaya Ramesh; David G Standaert; Xandra O Breakefield; John C Hedreen
TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion.
Neurobiology of disease 2003;12(1):11-24.
2002: Christine Klein; Katja Hedrich; K Kabakçi; Kathrin Mohrmann; Karin Wiegers; Olfert Landt; Johann Hagenah; Eberhard Schwinger; Peter P Pramstaller; Laurie J Ozelius; K Gucuyener; Sabiha Aysun; E Demir
Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia.
Neurology 2002;59(11):1783-6.
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: Birgitt Müller; Katja Hedrich; Norman Kock; Natasa Dragasevic; Marina Svetel; Jennifer Garrels; Olfert Landt; Matthias F Nitschke; Peter P Pramstaller; Wolf Reik; Eberhard Schwinger; Jürgen Sperner; Laurie J Ozelius; Vladimir Kostic; Christine Klein
Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia.
American journal of human genetics 2002;71(6):1303-11.
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.
2002: Takeshi Ikeuchi; Yoshiko Nomura; Masaya Segawa; Laurie J Ozelius; Takayoshi Shimohata; Shoji Tsuji
Multiple founder effects in Japanese families with primary torsion dystonia harboring the GAG deletion in the Tor1A (DYT1) gene.
Neurogenetics 2002;4(2):105-6.
2002: Patricia de Carvalho Aguiar; Laurie J Ozelius
Classification and genetics of dystonia.
Lancet neurology 2002;1(5):316-25.
2002: Christine Klein; Laurie J Ozelius
Dystonia: clinical features, genetics, and treatment.
Current opinion in neurology 2002;15(4):491-7.
2002: Norman Kock; Biljana Culjkovic; Susanna Maniak; Karla Schilling; Birgitt Müller; Christine Zühlke; Laurie J Ozelius; Christine Klein; Peter P Pramstaller; Patricia L Kramer
Mode of inheritance and susceptibility locus for restless legs syndrome, on chromosome 12q.
American journal of human genetics 2002;71(1):205-8; author reply 208.
2002: Philipp Ziefer; Joanne Leung; Tara Razzano; Christo Shalish; Mark S LeDoux; Joan F Lorden; Laurie J Ozelius; Xandra O Breakefield; David G Standaert; Sarah J Augood
Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat.
Brain research. Molecular brain research 2002;101(1-2):132-5.
2002: Martin Kann; Helfried Jacobs; Kathrin Mohrmann; Kirsten Schumacher; Katja Hedrich; Jennifer Garrels; Karin Wiegers; Eberhard Schwinger; Peter P Pramstaller; Xandra O Breakefield; Laurie J Ozelius; Peter Vieregge; Christine Klein
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
Annals of neurology 2002;51(5):621-5.
2002: Rüdiger Hilker; Christine Klein; Katja Hedrich; Laurie J Ozelius; Peter Vieregge; Karl Herholz; Peter P Pramstaller; Wolf-Dieter Heiss
The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans.
Neuroscience letters 2002;323(1):50-4.
2002: Martin Kann; Katja Hedrich; Peter Vieregge; Helfried Jacobs; B Müller; Norman Kock; Eberhard Schwinger; Christine Klein; Karen Marder; Juliette Harris; Helen Meija-Santana; Susan Bressman; Laurie J Ozelius; Anthony E Lang; Peter P Pramstaller
The parkin gene is not involved in late-onset Parkinson's disease.
Neurology 2002;58(5):835; author reply 835.
2002: Peter P Pramstaller; Bernhard Kis; Cordula Eskelson; Katja Hedrich; Monika Scherer; Eberhard Schwinger; Xandra O Breakefield; Patricia L Kramer; Laurie J Ozelius; Christine Klein
Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):424-6.
2002: Puneet Opal; Ron Tintner; Joseph Jankovic; Joanne Leung; Xandra O Breakefield; Jennifer Friedman; Laurie J Ozelius
Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Movement disorders : official journal of the Movement Disorder Society 2002;17(2):339-45.
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.
2001: Katja Hedrich; Martin Kann; A J Lanthaler; Andreas Dalski; Cordula Eskelson; Olfert Landt; Eberhard Schwinger; Peter Vieregge; Anthony E Lang; Xandra O Breakefield; Laurie J Ozelius; Peter P Pramstaller; Christine Klein
The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.
Human molecular genetics 2001;10(16):1649-56.
2001: J C Leung; Christine Klein; Jennifer Friedman; Peter Vieregge; H Jacobs; Dana Doheny; Christoph Kamm; D DeLeon; Peter P Pramstaller; John B Penney; M Eisengart; Joseph Jankovic; T Gasser; Susan Bressman; David P Corey; Patricia L Kramer; Mitchell F Brin; Laurie J Ozelius; Xandra O Breakefield
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
Neurogenetics 2001;3(3):133-43.
2001: N Sharma; Jeffrey W Hewett; Laurie J Ozelius; Vijaya Ramesh; Pamela J McLean; Xandra O Breakefield; Bradley T Hyman
A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study.
The American journal of pathology 2001;159(1):339-44.
2001: Susan Bressman; Stanley Fahn; Laurie J Ozelius; Patricia L Kramer; Neil J Risch
The DYT1 mutation and nonfamilial primary torsion dystonia.
Archives of neurology 2001;58(4):681-2.
2001: Rüdiger Hilker; Christine Klein; Mehran Ghaemi; Bernhard Kis; T Strotmann; Laurie J Ozelius; O Lenz; Peter Vieregge; Karl Herholz; Wolf-Dieter Heiss; Peter P Pramstaller
Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene.
Annals of neurology 2001;49(3):367-76.
2000: J R Friedman; Christine Klein; J Leung; H Woodward; Laurie J Ozelius; Xandra O Breakefield; M E Charness
The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia.
Neurology 2000;55(9):1417-8.
2000: Christine Klein; K Schumacher; Helfried Jacobs; Johann Hagenah; Bernhard Kis; Jennifer Garrels; Eberhard Schwinger; Laurie J Ozelius; Peter P Pramstaller; Peter Vieregge; Patricia L Kramer
Association studies of Parkinson's disease and parkin polymorphisms.
Annals of neurology 2000;48(1):126-7.
2000: Christine Klein; Peter P Pramstaller; Bernhard Kis; C C Page; Martin Kann; Joanne Leung; H Woodward; C C Castellan; M Scherer; Peter Vieregge; Xandra O Breakefield; Patricia L Kramer; Laurie J Ozelius
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype.
Annals of neurology 2000;48(1):65-71.
2000: Christine Klein; Martin Kann; Bernhard Kis; Peter P Pramstaller; Xandra O Breakefield; Laurie J Ozelius; Peter Vieregge
[Genetics of dystonia].
Der Nervenarzt 2000;71(6):431-41.
2000: Jeffrey W Hewett; Charo Gonzalez-Agosti; D Slater; Philipp Ziefer; S Li; D Bergeron; D J Jacoby; Laurie J Ozelius; Vijaya Ramesh; Xandra O Breakefield
Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells.
Human molecular genetics 2000;9(9):1403-13.
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: MG Sieberer; Peter Vieregge; Christine Klein; Laurie J Ozelius; Klaus-Peter Wandinger
Concordant late onset of craniocervical dystonia in a pair of monozygotic twins.
Movement disorders : official journal of the Movement Disorder Society 1999;14(6):1040-3.
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: Sarah J Augood; DM Martin; Laurie J Ozelius; Xandra O Breakefield; John B Penney; David G Standaert
Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain.
Annals of neurology 1999;46(5):761-9.
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; Peter Vieregge; Johann Hagenah; MG Sieberer; E Doyle; H Jacobs; T Gasser; Xandra O Breakefield; Neil J Risch; Laurie J Ozelius
Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany.
Annals of human genetics 1999;63(Pt 4):285-91.
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: BP Chadwick; L J Campbell; C L Jackson; Laurie J Ozelius; Susan A Slaugenhaupt; D A Stephenson; J H Edwards; J Wiest; S Povey
Report and abstracts of the Sixth International Workshop on chromosome 9.
Annals of human genetics 1999;63(Pt 2):101-24.
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; Xandra O Breakefield; Laurie J Ozelius
Genetics of primary dystonia.
Seminars in neurology 1999;19(3):271-80.
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.
1999: Yo Niida; N Lawrence-Smith; A Banwell; E Hammer; J Lewis; Roberta L Beauchamp; Katherine B Sims; Vijaya Ramesh; Laurie J Ozelius
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis.
Human mutation 1999;14(5):412-22.
1998: Christine Klein; Laurie J Ozelius; Johann Hagenah; Xandra O Breakefield; Neil J Risch; Peter Vieregge
Search for a founder mutation in idiopathic focal dystonia from Northern Germany.
American journal of human genetics 1998;63(6):1777-82.
1998: Christine Klein; Peter Vieregge; Wolfgang Heide; B Kemper; M Hagedorn-Greiwe; Johann Hagenah; Clemens Vollmer; Xandra O Breakefield; Detlef Kömpf; Laurie J Ozelius
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus.
Genomics 1998;54(1):176-7.
1998: Christine Klein; Peter P Pramstaller; C C Castellan; Xandra O Breakefield; Patricia L Kramer; Laurie J Ozelius
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.
Annals of neurology 1998;44(3):394-8.
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: Sarah J Augood; John B Penney; Ingrid K Friberg; Xandra O Breakefield; Anne B Young; Laurie J Ozelius; David G Standaert
Expression of the early-onset torsion dystonia gene (DYT1) in human brain.
Annals of neurology 1998;43(5):669-73.
1998: Roberta L Beauchamp; A Banwell; P McNamara; M Jacobsen; E Higgins; H Northrup; P Short; Katherine B Sims; Laurie J Ozelius; Vijaya Ramesh
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis.
Human mutation 1998;12(6):408-16.
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: 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: Thomas Gasser; C M Bove; Laurie J Ozelius; Mark Hallett; M E Charness; F H Hochberg; Xandra O Breakefield
Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia.
Movement disorders : official journal of the Movement Disorder Society 1996;11(2):163-6.
1996: Thomas Gasser; Zbigniew K Wszolek; A Supala; J Trofatter; Laurie J Ozelius; Ryan Uitti; Ronald F Pfeiffer; James Gusella; Donald B Calne; Xandra O Breakefield
Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes.
Advances in neurology 1996;69():87-95.
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: 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: Thomas Gasser; Zbigniew K Wszolek; J Trofatter; Laurie J Ozelius; Ryan Uitti; C S Lee; James Gusella; Ronald F Pfeiffer; Donald B Calne; Xandra O Breakefield
Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes.
Annals of neurology 1994;36(3):387-96.
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.
1994: Jan Wahlström; Laurie J Ozelius; Patricia L Kramer; Mårten Kyllerman; D Schuback; L Forsgren; Gösta Holmgren; U Drugge; G Sanner; Stanley Fahn
The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q.
Clinical genetics 1994;45(2):88-92.
1993: William B Dobyns; Laurie J Ozelius; Patricia L Kramer; Allison Brashear; Martin R Farlow; T R Perry; L E Walsh; E J Kasarskis; I J Butler; X O Breakefield
Rapid-onset dystonia-parkinsonism.
Neurology 1993;43(12):2596-602.
1993: Anat Blumenfeld; Susan A Slaugenhaupt; Felicia B Axelrod; D E Lucente; Channa Maayan; CB Liebert; Laurie J Ozelius; J A Trofatter; Jonathan L Haines; Xandra O Breakefield
Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
Nature genetics 1993;4(2):160-4.
1993: W Yan; Rose-Mary N Boustany; Christine Konradi; Laurie J Ozelius; Terry J Lerner; J A Trofatter; C Julier; Xandra O Breakefield; James Gusella; Jonathan L Haines
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.
American journal of human genetics 1993;52(1):89-95.
1993: Anat Blumenfeld; Felicia B Axelrod; J A Trofatter; Channa Maayan; D E Lucente; Susan A Slaugenhaupt; CB Liebert; Laurie J Ozelius; Jonathan L Haines; Xandra O Breakefield
Exclusion of familial dysautonomia from more than 60% of the genome.
Journal of medical genetics 1993;30(1):47-52.
1992: M A Mikati; H Maguire; C F Barlow; Laurie J Ozelius; Xandra O Breakefield; S M Klauck; B Korf; S L O'Tuama; Fernando Dangond
A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations.
Neurology 1992;42(12):2251-7.
1992: Laurie J Ozelius; David J Kwiatkowski; D E Schuback; Xandra O Breakefield; N S Wexler; James Gusella; Jonathan L Haines
A genetic linkage map of human chromosome 9q.
Genomics 1992;14(3):715-20.
1992: Laurie J Ozelius; D E Schuback; Kari Stefansson; Susan A Slaugenhaupt; James Gusella; Xandra O Breakefield
Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34.
Human molecular genetics 1992;1(2):141.
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.
1992: Christine Konradi; Laurie J Ozelius; Xandra O Breakefield
Highly polymorphic (GT)n repeat sequence in intron II of the human MAOB gene.
Genomics 1992;12(1):176-7.
1991: D E Schuback; Laurie J Ozelius; Xandra O Breakefield
BanI RFLP at AK1 locus (9q34).
Nucleic acids research 1991;19(20):5798.
1991: Christine Konradi; Laurie J Ozelius; W Yan; James Gusella; Xandra O Breakefield
Dinucleotide repeat polymorphism (D16S285) on human chromosome 16.
Nucleic acids research 1991;19(19):5449.
1991: David J Kwiatkowski; Laurie J Ozelius; Patricia L Kramer; S Perman; D E Schuback; James Gusella; Stanley Fahn; Xandra O Breakefield
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.
American journal of human genetics 1991;49(2):366-71.
1991: D Schuback; Patricia L Kramer; Laurie J Ozelius; Gösta Holmgren; L Forsgren; Mårten Kyllerman; Jan Wahlström; C M Craft; TG Nygaard; M Brin
Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.
Human genetics 1991;87(3):311-6.
1991: S Tzall; F Martiniuk; Laurie J Ozelius; James Gusella; Rochelle Hirschhorn
Further characterization of PstI RFLPs at the acid alpha glucosidase (GAA) locus.
Nucleic acids research 1991;19(7):1727.
1991: David J Kwiatkowski; TG Nygaard; D E Schuback; S Perman; JM Trugman; Susan Bressman; Robert E Burke; Mitchell F Brin; Laurie J Ozelius; Xandra O Breakefield
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.
American journal of human genetics 1991;48(1):121-8.
1990: Jonathan L Haines; Laurie J Ozelius; H McFarlane; A Menon; S Tzall; F Martiniuk; Rochelle Hirschhorn; James Gusella
A genetic linkage map of chromosome 17.
Genomics 1990;8(1):1-6.
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: D E Schuback; Laurie J Ozelius; G Hu; C M Craft; J Raese; Xandra O Breakefield; Y P Hsu
RFLP for human DBH (dopamine beta-hydroxylase).
Nucleic acids research 1990;18(2):387.
1989: K B Sims; Laurie J Ozelius; T Corey; W B Rinehart; R Liberfarb; Jonathan L Haines; W J Chen; Reijo Norio; Eeva-Marja Sankila; A de la Chapelle
Norrie disease gene is distinct from the monoamine oxidase genes.
American journal of human genetics 1989;45(3):424-34.
1989: David J Kwiatkowski; Laurie J Ozelius; D Schuback; James Gusella; Xandra O Breakefield
The gelsolin (GSN) cDNA clone, from 9q32-34, identifies BclI and StuI RFLPs.
Nucleic acids research 1989;17(11):4425.
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.
1989: C C Irwin; N S Wexler; Anne B Young; Laurie J Ozelius; John B Penney; Ira Shoulson; S R Snodgrass; M A Ramos-Arroyo; J Sanchez-Ramos; G K Penchaszadeh
The role of mitochondrial DNA in Huntington's disease.
Journal of molecular neuroscience : MN 1989;1(2):129-36.
1989: BR Seizinger; G E Farmer; Jonathan L Haines; Laurie J Ozelius; K Anderson; Bruce Korf; D M Parry; Margaret Pericak-Vance; J J Mulvihill; A Menon
Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1).
American journal of human genetics 1989;44(1):30-2.
1989: K B Sims; A de la Chapelle; Reijo Norio; Eeva-Marja Sankila; Y P Hsu; W B Rinehart; T J Corey; Laurie J Ozelius; J F Powell; G Bruns
Monoamine oxidase deficiency in males with an X chromosome deletion.
Neuron 1989;2(1):1069-76.
1988: Laurie J Ozelius; Y P Hsu; G Bruns; J F Powell; S Chen; W Weyler; M Utterback; D Zucker; Jonathan L Haines; J A Trofatter
Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.
Genomics 1988;3(1):53-8.
1988: BR Seizinger; G A Rouleau; Laurie J Ozelius; Andrew lane; G E Farmer; J M Lamiell; Jonathan L Haines; J W Yuen; D Collins; D Majoor-Krakauer
Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma.
Nature 1988;332(6161):268-9.
1988: Jonathan L Haines; Laurie J Ozelius; Peter St George-Hyslop; N S Wexler; James Gusella; P M Conneally
Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.
Genetic epidemiology 1988;5(6):375-80.
1988: Patricia L Kramer; Laurie J Ozelius; Mitchell F Brin; Stanley Fahn; Kenneth K Kidd; James Gusella; X O Breakefield
Molecular genetics of an autosomal dominant form of torsion dystonia.
Advances in neurology 1988;50():57-66.
1987: BR Seizinger; G A Rouleau; Andrew lane; G Farmer; Laurie J Ozelius; Jonathan L Haines; D M Parry; Bruce Korf; Margaret Pericak-Vance; A G Faryniarz
Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17.
Genomics 1987;1(4):346-8.
1987: BR Seizinger; G Rouleau; Andrew lane; Laurie J Ozelius; A G Faryniarz; J Iannazzi; W Hobbs; J C Roy; B Falcone; S Huson
DNA linkage analysis in Von Recklinghausen neurofibromatosis.
Journal of medical genetics 1987;24(9):529-30.
1987: BR Seizinger; G A Rouleau; Laurie J Ozelius; Andrew lane; A G Faryniarz; M V Chao; S Huson; Bruce Korf; D M Parry; Margaret Pericak-Vance
Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene.
Cell 1987;49(5):589-94.
1987: BR Seizinger; G Rouleau; Laurie J Ozelius; Andrew lane; Peter St George-Hyslop; S Huson; James Gusella; R L Martuza
Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.
Science (New York, N.Y.) 1987;236(4799):317-9.
1987: Patricia L Kramer; Laurie J Ozelius; James Gusella; Stanley Fahn; Kenneth K Kidd; X O Breakefield
Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.
Genetic epidemiology 1987;4(5):377-86.
1986: X O Breakefield; Laurie J Ozelius; Mark Bothwell; M V Chao; F Axelrod; Patricia L Kramer; K K Kidd; A A Lanahan; D E Johnson; A H Ross
DNA polymorphisms for the nerve growth factor receptor gene exclude its role in familial dysautonomia.
Molecular biology & medicine 1986;3(6):483-94.
1986: X O Breakefield; Susan Bressman; Patricia L Kramer; Laurie J Ozelius; C Moskowitz; Rudolph E Tanzi; Mitchell F Brin; W Hobbs; D Kaufman; A Tobin
Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.
Journal of neurogenetics 1986;3(3):159-75.