L.J. Ozelius: search on Z-Library

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51

The gelsolin (GSN) cDNA clone, from 9q32-34, identifies Bell and StuI RFLPs

Kwiatkowski, D.J., Ozelius, L., Schuback, D., Gusella, J., Breakefield, X.O.

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 169 KB

english, 1989

52

The parkin gene is not involved in late-onset Parkinson's disease

Kann, M., Hedrich, K., Vieregge, P., Jacobs, H., Muller, B., Kock, N., Schwinger, E., Klein, C., Marder, K., Harris, J., Meija-Santana, H., Bressman, S., Ozelius, L.J., Lang, A.E., Pramstaller, P.P.,

Journal:

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

53

Olfactory dysfunction in LRRK2 G2019S mutation carriers

Saunders-Pullman, R., Stanley, K., Wang, C., San Luciano, M., Shanker, V., Hunt, A., Severt, L., Raymond, D., Ozelius, L. J., Lipton, R. B., Bressman, S. B.

Journal:

Year:

2011

Language:

english

File:

PDF, 444 KB

english, 2011

54

Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion

Armata, Ioanna A., Diplas, Andreas I., Ozelius, Laurie J., Shashidharan, Pullanipally

Journal:

Journal of Nucleic Acids

Year:

2012

Language:

english

File:

PDF, 1.30 MB

english, 2012

55

Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort

Tsuboi, Takashi, Cif, Laura, Coubes, Philippe, Ostrem, Jill L., Romero, Danilo A., Miyagi, Yasushi, Lozano, Andres M., De Vloo, Philippe, Haq, Ihtsham, Meng, Fangang, Sharma, Nutan, Ozelius, Laurie J.

Journal:

Frontiers in Human Neuroscience

Year:

2020

File:

PDF, 1.14 MB

2020

56

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31

Torbjoern G. Nygaard, Deborah Raymond, Caiping Chen, Ichizo Nishino, Paul E. Greene, Danna Jennings, Gary A. Heiman, Christine Klein, Rachel J. Saunders-Pullman, Patricia Kramer, Laurie J. Ozelius, Su

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 7.70 MB

english, 1999

57

Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia–Parkinsonism kindred

Andrew McKeon, Laurie J. Ozelius, Oria Hardiman, Matthew J. Greenway, Sean J. Pittock

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 69 KB

english, 2007

58

Genetik der Dystonien

Ch. Klein, M. Kann, B. Kis, P.P. Pramstaller, X.O. Breakefield, L.J. Ozelius, P. Vieregge

Journal:

Year:

2000

Language:

german

File:

PDF, 569 KB

german, 2000

59

Mode of Inheritance and Susceptibility Locus for Restless Legs Syndrome, on Chromosome 12q

Norman Kock, Biljana Culjkovic, Susanna Maniak, Karla Schilling, Birgitt Müller, Christine Zühlke, Laurie Ozelius, Christine Klein, Peter P. Pramstaller, Patricia L. Kramer

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 803 KB

english, 2002

60

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

Ulate-Campos, Adriana, Fons, Carmen, Artuch, Rafael, Castejón, Esperanza, Martorell, Loreto, Ozelius, Laurie, Pascual, Juan, Campistol, Jaume

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 406 KB

english, 2014

61

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers

Heiman, G. A., Ottman, R., Saunders-Pullman, R. J., Ozelius, L. J., Risch, N. J., Bressman, S. B.

Journal:

Year:

2004

Language:

english

File:

PDF, 198 KB

english, 2004

62

Novel compound heterozygous mutations in PRKRA cause pure dystonia

de Carvalho Aguiar, Patricia, Borges, Vanderci, Ferraz, Henrique Ballalai, Ozelius, Laurie Jean

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 134 KB

english, 2015

63

Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis

Dr. P. L. Kramer, L. Ozelius, J. F. Gusella, S. Fahn, K. K. Kidd, X. O. Breakefield, I. B. Boerecki

Journal:

Genetic Epidemiology

Year:

1987

Language:

english

File:

PDF, 599 KB

english, 1987

64

TorsinA in PC12 cells: Localization in the endoplasmic reticulum and response to stress

Jeffrey Hewett, Philipp Ziefer, Daniele Bergeron, Teri Naismith, Heather Boston, Damien Slater, Jeremy Wilbur, Deborah Schuback, Christoph Kamm, Nicole Smith, Sara Camp, Laurie J. Ozelius, Vijaya Rame

Journal:

Journal of Neuroscience Research

Year:

2003

Language:

english

File:

PDF, 197 KB

english, 2003

65

Screening of Brazilian families with primary dystonia reveals a novel THAP1 mutation and a de novo TOR1A GAG deletion

Patricia De Carvalho Aguiar, Tania Fuchs, Vanderci Borges, Kay-Marie Lamar, Sonia Maria Azevedo Silva, Henrique Ballalai Ferraz, Laurie Ozelius

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 958 KB

english, 2010

66

Progression in the LRRK2 -Asssociated Parkinson Disease Population

Saunders-Pullman, Rachel, Mirelman, Anat, Alcalay, Roy N., Wang, Cuiling, Ortega, Roberto A., Raymond, Deborah, Mejia-Santana, Helen, Orbe-Reilly, Martha, Johannes, Brooke A., Thaler, Avner, Ozelius,

Journal:

Year:

2018

Language:

english

File:

PDF, 343 KB

english, 2018

67

Revising rapid‐onset dystonia–parkinsonism: Broadening indications for ATP1A3 testing

Haq, Ihtsham U., Snively, Beverly M., Sweadner, Kathleen J., Suerken, Cynthia K., Cook, Jared F., Ozelius, Laurie J., Miller, Charlotte, McCall, William V., Whitlow, Christopher, Brashear, Allison

Journal:

Movement Disorders

Year:

2019

Language:

english

File:

PDF, 1.28 MB

english, 2019

68

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia

Deborah Schuback, Patricia Kramer, Laurie Ozelius, Gösta Holmgren, Lars Forsgren, Marten Kyllerman, Jan Wahlström, Cheryl M. Craft, Torbjoern Nygaard, Mitchell Brin, Deborah Leon, Susan Bressman, Caro

Journal:

Year:

1991

Language:

english

File:

PDF, 679 KB

english, 1991

69

Dystonia type 6 gene product Thap1: identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

Ortiz-Virumbrales, Maitane, Ruiz, Marta, Hone, Eugene, Dolios, Georgia, Wang, Rong, Morant, Andrika, Kottwitz, Jessica, Ozelius, Laurie J, Gandy, Sam, Ehrlich, Michelle E

Journal:

Acta Neuropathologica Communications

Year:

2014

Language:

english

File:

PDF, 2.17 MB

english, 2014

70

Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32–34

Ozelius, L., Schuback, D.E., Stefansson, K., Slaugenhaupt, S., Gusella, J.F., Breakefield, X.O.

Journal:

Human Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 95 KB

english, 1992

71

Nonmotor symptoms in healthy Ashkenazi Jewish carriers of the G2019S mutation in the LRRK2 gene

Mirelman, Anat, Alcalay, Roy N., Saunders-Pullman, Rachel, Yasinovsky, Kira, Thaler, Avner, Gurevich, Tanya, Mejia-Santana, Helen, Raymond, Deborah, Gana-Weisz, Mali, Bar-Shira, Anat, Ozelius, Laurie,

Journal:

Movement Disorders

Year:

2015

Language:

english

File:

PDF, 187 KB

english, 2015

72

The R98Q variation in DJ-1 represents a rare polymorphism

Katja Hedrich, Nora Schäfer, Robert Hering, Johann Hagenah, Andrea J. Lanthaler, Eberhard Schwinger, Patricia L. Kramer, Laurie J. Ozelius, Susan B. Bressman, Giovanni Abbruzzese, Paolo Martinelli, Vl

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 333 KB

english, 2004

73

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes

Jonathan L. Haines, Laurie Ozelius, Peter St George-Hyslop, Nancy S. Wexler, James F. Gusella, P. Michael Conneally, G. P. Vogler

Journal:

Genetic Epidemiology

Year:

1988

Language:

english

File:

PDF, 345 KB

english, 1988

74

Intrafamilial phenotypic variability of the DYT1 dystonia: From asymptomatic TOR1A gene carrier status to dystonic storm

Puneet Opal, Ron Tintner, Joseph Jankovic, Joanne Leung, Xandra O. Breakefield, Jennifer Friedman, Laurie Ozelius

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 140 KB

english, 2002

75

Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

Peter P. Pramstaller, Bernhard Kis, Cordula Eskelson, Katja Hedrich, Monika Scherer, Eberhard Schwinger, Xandra O. Breakefield, Patricia L. Kramer, Laurie J. Ozelius, Christine Klein

Journal:

Movement Disorders

Year:

2002

Language:

english

File:

PDF, 108 KB

english, 2002

76

Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain

Cem Sengel, Sophie Gavarini, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg

Journal:

Journal of Neurochemistry

Year:

2011

Language:

english

File:

PDF, 691 KB

english, 2011

77

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia

Fuchs, Tania, Gavarini, Sophie, Saunders-Pullman, Rachel, Raymond, Deborah, Ehrlich, Michelle E, Bressman, Susan B, Ozelius, Laurie J

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 264 KB

english, 2009

78

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

Breakefield, Xandra O., Bressman, Susan B., Kramer, Patricia L., Ozelius, Laurie, Moskowitz, Carol, Tanzi, Rudolph, Brin, Mitchell F., Hobbs, Wendy, Kaufman, Daniel, Tobin, Allan, Kidd, Kenneth K., Fa

Journal:

Journal of Neurogenetics

Year:

1986

Language:

english

File:

PDF, 918 KB

english, 1986

79

Secondary dystonia and the DYTI gene

Bressman, S. B., de Leon, D., Raymond, D., Greene, P. E., Brin, M. F., Fahn, S., Ozelius, L. J., Breakefield, X. O., Kramer, P. L., Risch, N. J.

Journal:

Year:

1997

Language:

english

File:

PDF, 687 KB

english, 1997

80

Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia

Lohmann, Katja, Redin, Claire, Tönnies, Holger, Bressman, Susan B., Subero, Jose Ignacio Martin, Wiegers, Karin, Hinrichs, Frauke, Hellenbroich, Yorck, Rakovic, Aleksandar, Raymond, Deborah, Ozelius,

Journal:

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

81

Screening study of TUBB4A in isolated dystonia

Vulinovic, Franca, Schaake, Susen, Domingo, Aloysius, Kumar, Kishore Raj, Defazio, Giovanni, Mir, Pablo, Simonyan, Kristina, Ozelius, Laurie J., Brüggemann, Norbert, Chung, Sun Ju, Rakovic, Aleksandar

Journal:

Parkinsonism & Related Disorders

Year:

2017

Language:

english

File:

PDF, 194 KB

english, 2017

82

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32–34

Patricia L. Kramer, MD Deborah De Leon, Laurie Ozelius, Neil Risch, MD Susan B. Bressman, MD Mitchell F. Brin, Deborah E. Schuback, MD Robert E. Burke, David J. Kwiatkowski, MD Heidi Shale, James F. G

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 654 KB

english, 1990

83

Substantia nigra hyperechogenicity with LRRK2 G2019S mutations

Norbert Brüggemann, Johann Hagenah, Kaili Stanley, Christine Klein, Cuiling Wang, Deborah Raymond, Laurie Ozelius, Susan Bressman, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 661 KB

english, 2011

84

Differential effects of COMT on gait and executive control in aging

R. Holtzer, L. Ozelius, X. Xue, T. Wang, R.B. Lipton, J. Verghese

Journal:

Neurobiology of Aging

Year:

2010

Language:

english

File:

PDF, 186 KB

english, 2010

85

LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews

Ozelius, Laurie J., Senthil, Geetha, Saunders-Pullman, Rachel, Ohmann, Erin, Deligtisch, Amanda, Tagliati, Michele, Hunt, Ann L., Klein, Christine, Henick, Brian, Hailpern, Susan M., Lipton, Richard B

Journal:

Boston Medical and Surgical Journal

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

86

Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease

Alcalay, Roy N., Mejia-Santana, Helen, Mirelman, Anat, Saunders-Pullman, Rachel, Raymond, Deborah, Palmese, Christina, Caccappolo, Elise, Ozelius, Laurie, Orr-Urtreger, Avi, Clark, Lorraine, Giladi, N

Journal:

Parkinsonism & Related Disorders

Year:

2015

Language:

english

File:

PDF, 247 KB

english, 2015

87

Myoclonus-dystonia: Detection of novel, recurrent, and de novo SGCE mutations

Hedrich, K., Meyer, E. -M., Schule, B., Kock, N., de Carvalho Aguiar, P., Wiegers, K., Koelman, J. H., Garrels, J., Durr, R., Liu, L., Schwinger, E., Ozelius, L. J., Landwehrmeyer, B., Stoessl, A. J.,

Journal:

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

88

Dystonia: clinical features, genetics, and treatment

Klein, Christine, Ozelius, Laurie J.

Journal:

Current Opinion in Neurology

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

89

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

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,

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.72 MB

english, 2002

90

REPORT on the Sixth International Workshop on Chromosome 9 held at Denver, Colorado, U.S.A., 27 October 1998

B. P. CHADWICK, L. J. CAMPBELL, C. L. JACKSON, L. OZELIUS, S. A. SLAUGENHAUPT, D. A. STEPHENSON, J. H. EDWARDS, J. WIEST, S. POVEY

Journal:

Annals of Human Genetics

Year:

1999

Language:

english

File:

PDF, 394 KB

english, 1999

91

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

J. Wahlström, L Ozelius, P. Kramer, M. Kyllerman, D. Schuback, L. Forsgren, G. Holmgren, U. Drugge, G. Sanner, S. Fahn, X. O. Breakefield

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 493 KB

english, 1994

92

A High-Resolution Linkage Map of Human 9q34.1

Elizabeth P. Henske, Laurie Ozelius, James F. Gusella, Jonathan L. Haines, David J. Kwiatkowski

Journal:

Year:

1993

File:

PDF, 278 KB

1993

93

1.261 THAP1/DYT6 SEQUENCE VARIANTS IN NON-DYT1 EARLY ONSET PRIMARY DYSTONIA IN CHINA AND THEIR EFFECTS ON RNA EXPRESSION

F.B. Cheng, L.J. Ozelius, X.H. Wan, J.C. Feng, L.Y. Ma, L. Wang, Y.M. Yang

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

94

High mutation rate in dopa-responsive dystonia: Detection with comprehensive GCHI screening

Hagenah, J., Saunders-Pullman, R., Hedrich, K., Kabakci, K., Habermann, K., Wiegers, K., Mohrmann, K., Lohnau, T., Raymond, D., Vieregge, P., Nygaard, T., Ozelius, L. J., Bressman, S. B., Klein, C.

Journal:

Year:

2005

Language:

english

File:

PDF, 454 KB

english, 2005

95

Monoamine oxidase deficiency in males with an X chromosome deletion

Sims, K.B., de la Chapelle, A., Norio, R., Sankila, E-M., Hsu, Y.-P.P, Rinehart, W.B., Corey, T.J., Ozelius, L., Powell, J.F., Bruns, G.

Journal:

Year:

1989

Language:

english

File:

PDF, 1.47 MB

english, 1989

96

A genetic linkage map of chromosome 17

Haines, Jonathan L., Ozelius, Laurie J., McFarlane, Heather, Menon, Anil, Tzall, Stephanie, Martiniuk, Frank, Hirschhorn, Rochelle, Gusella, James F.

Journal:

Year:

1990

Language:

english

File:

PDF, 638 KB

english, 1990

97

The DYT1 phenotype and guidelines for diagnostic testing

Bressman, S. B., Sabatti, C., Raymond, D., de Leon, D., Klein, C., Kramer, P. L., Brin, M. F., Fahn, S., Breakefield, X., Ozelius, L. J., Risch, N. J.

Journal:

Year:

2000

Language:

english

File:

PDF, 256 KB

english, 2000

98

The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia

Friedman, J. R. L., Klein, C., Leung, J., Woodward, H., Ozelius, L. J., Breakefield, X. O., Charness, M. E.

Journal:

Year:

2000

Language:

english

File:

PDF, 661 KB

english, 2000

99

Differential Binding of Cross-Reactive Anti-DNA Antibodies to Mesangial Cells: The Role of -Actinin

Zhao, Z., Deocharan, B., Scherer, P. E., Ozelius, L. J., Putterman, C.

Journal:

The Journal of Immunology

Year:

2006

Language:

english

File:

PDF, 3.89 MB

english, 2006

100

Mood and cognition in leucine-rich repeat kinase 2 G2019S Parkinson's disease

Vicki Shanker, Mark Groves, Gary Heiman, Christina Palmese, Rachel Saunders-Pullman, Laurie Ozelius, Deborah Raymond, Susan Bressman

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 110 KB

english, 2011

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