L.J. Ozelius: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

Classification and genetics of dystonia

Patricia M de Carvalho Aguiar, Laurie J Ozelius

Journal:

The Lancet Neurology

Year:

2002

Language:

english

File:

PDF, 204 KB

english, 2002

2

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

Roberta L. Beauchamp, Ashleigh Banwell, Patrick McNamara, Matthew Jacobsen, Erica Higgins, Hope Northrup, Priscilla Short, Katherine Sims, Laurie Ozelius, Vijaya Ramesh

Journal:

Year:

1998

Language:

english

File:

PDF, 282 KB

english, 1998

3

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

Ozelius, Laurie J., Hewett, Jeffrey W., Page, Curtis E., Bressman, Susan B., Kramer, Patricia L., Shalish, Christo, de Leon, Deborah, Brin, Mitchell F., Raymond, Deborah, Corey, David P.

Journal:

Nature Genetics

Year:

1997

File:

PDF, 1.14 MB

1997

4

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Yo Niida, Nicole Lawrence-Smith, Ashleigh Banwell, Erica Hammer, Janine Lewis, Roberta L. Beauchamp, Katherine Sims, Vijaya Ramesh, Laurie Ozelius

Journal:

Year:

1999

Language:

english

File:

PDF, 339 KB

english, 1999

5

The North American Multiple System Atrophy Study Group

S. Gilman, S. J. May, C. W. Shults, C. M. Tanner, W. Kukull, V. M.-Y. Lee, E. Masliah, P. Low, P. Sandroni, J. Q. Trojanowski, L. Ozelius, T. Foroud, and The North American Multiple System Atrophy Stu

Journal:

Journal of Neural Transmission

Year:

2005

Language:

english

File:

PDF, 63 KB

english, 2005

6

Genetics of Primary Dystonia

Klein, Christine, Breakefield, Xandra, Ozelius, Laurie

Journal:

Seminars in Neurology

Year:

1999

Language:

english

File:

PDF, 1.12 MB

english, 1999

7

Expanded genetic screening panel for the Ashkenazi Jewish population

Baskovich, Brett, Hiraki, Susan, Upadhyay, Kinnari, Meyer, Philip, Carmi, Shai, Barzilai, Nir, Darvasi, Ariel, Ozelius, Laurie, Peter, Inga, Cho, Judy H., Atzmon, Gil, Clark, Lorraine, Yu, Jin, Lencz,

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 483 KB

english, 2015

8

Rapid-onset dystonia–parkinsonism: Linkage to chromosome 19q13

Patricia L. Kramer, Mari Mineta, Christine Klein, Karla Schilling, Deborah De Leon, Martin R. Farlow, Xandra O. Breakefield, Susan B. Bressman, William B. Dobyns, Laurie J. Ozelius, Allison Brashear

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 162 KB

english, 1999

9

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Blumenfeld, Anat, Slaugenhaupt, Susan A., Axelrod, Felicia B., Lucente, Diane E., Maayan, Channa, Liebert, Christopher B., Ozelius, Laurie J., Trofatter, James A., Haines, Jonathan L., Breakefield, Xa

Journal:

Nature Genetics

Year:

1993

File:

PDF, 455 KB

1993

10

Hereditary myoclonus-dystonia associated with epilepsy

Foncke, E. M.J., Klein, C., Koelman, J. H.T.M., Kramer, P. L., Schilling, K., Muller, B., Garrels, J., de Carvalho Aguiar, P., Liu, L., de Froe, A., Speelman, J. D., Ozelius, L. J., Tijssen, M. A.J.

Journal:

Year:

2003

Language:

english

File:

PDF, 204 KB

english, 2003

11

Exclusion of familial dysautonomia from more than 60% of the genome.

Blumenfeld, A, Axelrod, F B, Trofatter, J A, Maayan, C, Lucente, D E, Slaugenhaupt, S A, Liebert, C B, Ozelius, L J, Haines, J L, Breakefield, X O

Journal:

Journal of Medical Genetics

Year:

1993

Language:

english

File:

PDF, 992 KB

english, 1993

12

Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function

Cruz, Lilian, GyÃ¶rgy, Bence, Cheah, Pike See, Kleinstiver, Benjamin P., Eimer, William A., Garcia, Sara P., Sharma, Nutan, Ozelius, Laurie J., Bragg, D. Cristopher, Joung, J. Keith, Norberto de Souza

Journal:

Molecular Therapy — Nucleic Acids

Year:

2020

File:

PDF, 33.37 MB

2020

13

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia

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

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

14

MspI RFLP for human MAOA gene

Ozelius, L., Gusella, J.F., Breakefield, X.O.

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 39 KB

english, 1989

15

Mutation in 5′ upstream region of GCHI gene causes familial dopa-responsive dystonia

Nutan Sharma, Ioanna A. Armata, Trisha J. Multhaupt-Buell, Laurie J. Ozelius, Winnie Xin, Katherine B. Sims

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 1023 KB

english, 2011

16

Genetic and clinical features of primary torsion dystonia

Laurie J. Ozelius, Susan B. Bressman

Journal:

Neurobiology of Disease

Year:

2011

Language:

english

File:

PDF, 277 KB

english, 2011

17

New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism

Richard L. Barbano, Deborah F. Hill, Beverly M. Snively, Laney S. Light, Niki Boggs, W. Vaughn McCall, Mark Stacy, Laurie Ozelius, Kathleen J. Sweadner, Allison Brashear

Journal:

Parkinsonism & Related Disorders

Year:

2012

Language:

english

File:

PDF, 137 KB

english, 2012

18

Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia

Neil J. Risch, Susan B. Bressman, Geetha Senthil, Laurie J. Ozelius

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

19

A radiation-reduced hybrid cell line containing 5 Mb/17 cM of human DNA from 9q34

Henske, Elizabeth P., Ozelius, Laurie, Anderson, Mary Ann, Kwiatkowski, David J.

Journal:

Year:

1992

Language:

english

File:

PDF, 6.68 MB

english, 1992

20

RAPID-ONSET DYSTONIA-PARKINSONISM IN A CHILD WITH A NOVEL ATP1A3 GENE MUTATION

Anselm, I. A., Sweadner, K. J., Gollamudi, S., Ozelius, L. J., Darras, B. T.

Journal:

Year:

2009

Language:

english

File:

PDF, 412 KB

english, 2009

21

Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia

Gerrits, M.C.F., Foncke, E. M.J., de Haan, R., Hedrich, K., van de Leemput, Y. L.C., Baas, F., Ozelius, L. J., Speelman, J. D., Klein, C., Tijssen, M. A.J.

Journal:

Year:

2006

Language:

english

File:

PDF, 158 KB

english, 2006

22

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers

Hess, C. W., Raymond, D., Aguiar, P. d. C., Frucht, S., Shriberg, J., Heiman, G. A., Kurlan, R., Klein, C., Bressman, S. B., Ozelius, L. J., Saunders-Pullman, R.

Journal:

Year:

2007

Language:

english

File:

PDF, 168 KB

english, 2007

23

Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study

Susan B Bressman, Deborah Raymond, Tania Fuchs, Gary A Heiman, Laurie J Ozelius, Rachel Saunders-Pullman

Journal:

The Lancet Neurology

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

24

GNAL mutation in isolated laryngeal dystonia

Putzel, Gregory G., Fuchs, Tania, Battistella, Giovanni, Rubien-Thomas, Estee, Frucht, Steven J., Blitzer, Andrew, Ozelius, Laurie J., Simonyan, Kristina

Journal:

Movement Disorders

Year:

2016

Language:

english

File:

PDF, 1.38 MB

english, 2016

25

Cognitive and Motor Functioning in Elderly Glucocerebrosidase (GBA) Mutation Carriers

Moran, Eileen E., Wang, Cuiling, Katz, Mindy, Ozelius, Laurie, Schwartz, Alison, Pavlovic, Jelena, Ortega, Roberto A., Lipton, Richard B., Zimmerman, Molly E., Saunders-Pullman, Rachel

Journal:

Neurobiology of Aging

Year:

2017

Language:

english

File:

PDF, 342 KB

english, 2017

26

Benign SLC39A14 Course of DystoniaâParkinsonism Secondary to Inherited Manganese Accumulation

Namnah, Montaser, Bauer, Max, MorâShaked, Hagar, Bressman, Susan B., Raymond, Deborah, Ozelius, Laurie J., Arkadir, David

Journal:

Movement Disorders Clinical Practice

Year:

2020

File:

PDF, 226 KB

2020

27

Clinical expression of LRRK2 G2019S mutations in the elderly

Marta San Luciano, Richard B. Lipton, Cuiling Wang, Mindy Katz, Molly E. Zimmerman, Amy E. Sanders, Laurie J. Ozelius, Susan B. Bressman, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 163 KB

english, 2010

28

Psychiatric disorders in rapid-onset dystonia-parkinsonism

Brashear, A., Cook, J. F., Hill, D. F., Amponsah, A., Snively, B. M., Light, L., Boggs, N., Suerken, C. K., Stacy, M., Ozelius, L., Sweadner, K. J., McCall, W. V.

Journal:

Year:

2012

Language:

english

File:

PDF, 349 KB

english, 2012

29

Gender differences in the IL6 −174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease

M. San Luciano, L. Ozelius, R.B. Lipton, D. Raymond, S.B. Bressman, R. Saunders-Pullman

Journal:

Neuroscience Letters

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

30

Association of a Missense Change in the D2 Dopamine Receptor with Myoclonus Dystonia

Christine Klein, Mitchell F. Brin, Patricia Kramer, Miguel Sena-Esteves, Deborah de Leon, Dana Doheny, Susan Bressman, Stanley Fahn, Xandra O. Breakefield and Laurie J. Ozelius

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1018 KB

english, 1999

31

Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium

Marder, K., Wang, Y., Alcalay, R. N., Mejia-Santana, H., Tang, M.-X., Lee, A., Raymond, D., Mirelman, A., Saunders-Pullman, R., Clark, L., Ozelius, L., Orr-Urtreger, A., Giladi, N., Bressman, S.

Journal:

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

32

ATP1A3 mutations: What is the phenotype?

Brashear, A., Ozelius, L. J., Sweadner, K. J.

Journal:

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

33

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

Zakirova, Zuchra, Fanutza, Tomas, Bonet, Justine, Readhead, Ben, Zhang, Weijia, Yi, Zhengzi, Beauvais, Genevieve, Zwaka, Thomas P., Ozelius, Laurie J., Blitzer, Robert D., Gonzalez-Alegre, Pedro, Ehrl

Journal:

Year:

2018

Language:

english

File:

PDF, 8.40 MB

english, 2018

34

Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling

Masuho, Ikuo, Chavali, Sreenivas, Muntean, Brian S., Skamangas, Nickolas K., Simonyan, Kristina, Patil, Dipak N., Kramer, Grant M., Ozelius, Laurie, Babu, M. Madan, Martemyanov, Kirill A.

Journal:

Year:

2018

Language:

english

File:

PDF, 4.20 MB

english, 2018

35

Responsiveness to levodopa in epsilon-sarcoglycan deletions

Marta San Luciano, Laurie Ozelius, Katherine Sims, Deborah Raymond, Liu Liu, Rachel Saunders-Pullman

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 905 KB

english, 2009

36

ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism

Jee-Young Lee, Seema Gollamudi, Laurie J. Ozelius, Ji-Young Kim, Beom S. Jeon

Journal:

Movement Disorders

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

37

A Close Association of TorsinA and α-Synuclein in Lewy Bodies: A Fluorescence Resonance Energy Transfer Study

Nutan Sharma, Jeffrey Hewett, Laurie J. Ozelius, Vijaya Ramesh, Pamela J. McLean, Xandra O. Breakefield, Bradley T. Hyman

Journal:

The American Journal of Pathology

Year:

2001

Language:

english

File:

PDF, 430 KB

english, 2001

38

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

Faryniarz, A.G., Chao, M.V., Huson, S., Korf, B.R., Parry, D.M., Pericak-Vance, M.A., Seizinger, B.R., Rouleau, G.A., Ozelius, L.J., Lane, A.H.

Journal:

Year:

1987

Language:

english

File:

PDF, 781 KB

english, 1987

39

A genetic linkage map of human chromosome 9q

Ozelius, Laurie J., Kwiatkowski, David J., Schuback, Deborah E., Breakefield, Xandra O., Wexler, Nancy S., Gusella, James F., Haines, Jonathan L.

Journal:

Year:

1992

Language:

english

File:

PDF, 697 KB

english, 1992

40

DNA linkage analysis in Von Recklinghausen neurofibromatosis.

Seizinger, B R, Rouleau, G, Lane, A H, Ozelius, L J, Faryniarz, A G, Iannazzi, J, Hobbs, W, Roy, J C, Falcone, B, Huson, S

Journal:

Journal of Medical Genetics

Year:

1987

Language:

english

File:

PDF, 288 KB

english, 1987

41

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

Gan-Or, Z., Ozelius, L. J., Bar-Shira, A., Saunders-Pullman, R., Mirelman, A., Kornreich, R., Gana-Weisz, M., Raymond, D., Rozenkrantz, L., Deik, A., Gurevich, T., Gross, S. J., Schreiber-Agus, N., Gi

Journal:

Year:

2013

Language:

english

File:

PDF, 207 KB

english, 2013

42

THAP1: Role in focal dystonia?

Ozelius, L. J., Bressman, S. B.

Journal:

Year:

2010

Language:

english

File:

PDF, 161 KB

english, 2010

43

Fine Localization of the Torsion Dystonia Gene ( DYT1 ) on Human Chromosome 9q34: YAC Map and Linkage Disequilibrium

Ozelius, Laurie J., Hewett, Jeffrey, Kramer, Patricia, Bressman, Susan B., Shalish, Christo, de Leon, Deborah, Rutter, Marc, Risch, Neil, Brin, Mitchell F., Markova, Elena D., Limborska, Svetlana A.,

Journal:

Genome Research

Year:

1997

Language:

english

File:

PDF, 283 KB

english, 1997

44

Cervical dystonia incidence and diagnostic delay in a multiethnic population

LaHue, Sara C., Albers, Kathleen, Goldman, Samuel, Lo, Raymond, Gu, Zhuqin, Leimpeter, Amethyst, Fross, Robin, Comyns, Kathleen, Marras, Connie, Kleijn, Annelie, Smit, Robin, Katz, Maya, Ozelius, Laur

Journal:

Movement Disorders

Year:

2019

File:

PDF, 337 KB

2019

45

Frequency of parkin mutations in late-onset Parkinson's disease

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

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 61 KB

english, 2003

46

Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from Northern Germany

C. KLEIN, P. VIEREGGE, J. HAGENAH, M. SIEBERER, E. DOYLE, H. JACOBS, T. GASSER, X. O. BREAKEFIELD, N. J. RISCH, L. J. OZELIUS

Journal:

Annals of Human Genetics

Year:

1999

Language:

english

File:

PDF, 165 KB

english, 1999

47

Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia

Rachel Saunders-Pullman, Richard B. Lipton, Geetha Senthil, Mindy Katz, Camille Costan-Toth, Carol Derby, Susan Bressman, Joe Verghese, Laurie J. Ozelius

Journal:

Neuroscience Letters

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

48

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

Rüdiger Hilker, Christine Klein, Katja Hedrich, Laurie J. Ozelius, Peter Vieregge, Karl Herholz, Peter P. Pramstaller, Wolf-Dieter Heiss

Journal:

Neuroscience Letters

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

49

Diagnostic criteria for dystonia in DYT1 families

Bressman, S. B., Raymond, D., Wendt, K., Saunders-Pullman, R., de Leon, D., Fahn, S., Ozelius, L., Risch, N.

Journal:

Year:

2002

Language:

english

File:

PDF, 181 KB

english, 2002

50

Clinical spectrum of disease associated with ATP1A3 mutations

Laurie J Ozelius

Journal:

The Lancet Neurology

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски