Search the collection

55 results for Ozelius,+Laurie+J

Sort by:

Sort by

Limit results to:

20 per page

55 results for Ozelius,+Laurie+J

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Distinct neurological disorders with ATP1A3 mutations
Author / Creator:Heinzen, Erin L, Dr ; Arzimanoglou, Alexis, MD ; Brashear, Allison, Prof ; Clapcote, Steven J, PhD ; Gurrieri, Fiorella, Prof ; Goldstein, David B, Prof ; Jóhannesson, Sigurður H ; Mikati, Mohamad A, Prof ; Neville, Brian, Prof ; Nicole, Sophie, PhD ; Ozelius, Laurie J, PhD ; Poulsen, Hanne, PhD ; Schyns, Tsveta, PhD ; Sweadner, Kathleen J, PhD ; van den Maagdenberg, Arn, Prof ; Vilsen, Bente, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014-05, Vol.13 (5), p.503-514
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
Author / Creator:Fuchs, Tania ; Gavarini, Sophie ; Saunders-Pullman, Rachel ; Raymond, Deborah ; Ehrlich, Michelle E ; Bressman, Susan B ; Ozelius, Laurie J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2009-03, Vol.41 (3), p.286-288
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
Author / Creator: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 ; Ehrlich, Michelle E
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2018-01, Vol.14 (1), p.e1007169-e1007169
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
ATP1A3 Mutation in Adult Rapid-Onset Ataxia
Author / Creator:Sweadner, Kathleen J ; Toro, Camilo ; Whitlow, Christopher T ; Snively, Beverly M ; Cook, Jared F ; Ozelius, Laurie J ; Markello, Thomas C ; Brashear, Allison
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-03, Vol.11 (3), p.e0151429-e0151429
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study
Author / Creator:Bressman, Susan B, MD ; Raymond, Deborah, MS ; Fuchs, Tania, PhD ; Heiman, Gary A, PhD ; Ozelius, Laurie J, PhD ; Saunders-Pullman, Rachel, MD
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2009-05, Vol.8 (5), p.441-446
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort
Author / Creator: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. ; Wagle Shukla, Aparna ; Cauraugh, James H. ; Foote, Kelly D. ; Okun, Michael S.
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in human neuroscience, 2020-06, Vol.14, p.242-242
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation
Author / Creator:Lencz, Todd ; Yu, Jin ; Palmer, Cameron ; Carmi, Shai ; Ben-Avraham, Danny ; Barzilai, Nir ; Bressman, Susan ; Darvasi, Ariel ; Cho, Judy H. ; Clark, Lorraine N. ; Gümüş, Zeynep H. ; Joseph, Vijai ; Klein, Robert ; Lipkin, Steven ; Offit, Kenneth ; Ostrer, Harry ; Ozelius, Laurie J. ; Peter, Inga ; Atzmon, Gil ; Pe’er, Itsik
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2018-04, Vol.137 (4), p.343-355
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Mutations in THAP1 ( DYT6 ) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study
Author / Creator:Djarmati, Ana, PhD ; Schneider, Susanne A, MD ; Lohmann, Katja, PhD ; Winkler, Susen, BSc ; Pawlack, Heike, BSc ; Hagenah, Johann, MD ; Brüggemann, Norbert, MD ; Zittel, Simone, MD ; Fuchs, Tania, PhD ; Raković, Aleksandar, MSc ; Schmidt, Alexander, MD ; Jabusch, Hans-Christian, MD ; Wilcox, Robert, MD ; Kostić, Vladimir S, MD ; Siebner, Hartwig, MD ; Altenmüller, Eckart, MD ; Münchau, Alexander, MD ; Ozelius, Laurie J, PhD ; Klein, Christine, MD
Publisher:England: Elsevier Limited
Journal title:Lancet neurology, 2009-05, Vol.8 (5), p.447-452
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1
Author / Creator:Liu, Yi Bessie ; Tewari, Ambika ; Salameh, Johnny ; Arystarkhova, Elena ; Hampton, Thomas G ; Brashear, Allison ; Ozelius, Laurie J ; Khodakhah, Kamran ; Sweadner, Kathleen J
Publisher:England: eLife Science Publications, Ltd
Journal title:eLife, 2015-12, Vol.4
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease
Author / Creator:Miltenberger-Miltenyi, Gabriel ; Ortega, Roberto A. ; Domingo, Aloysius ; Yadav, Rachita ; Nishiyama, Ayumi ; Raymond, Deborah ; Katsnelson, Viktoriya ; Urval, Nikita ; Swan, Matthew ; Shanker, Vicki ; Miravite, Joan ; Walker, Ruth H. ; Bressman, Susan B. ; Ozelius, Laurie J. ; Cabassa, José C. ; Saunders-Pullman, Rachel
Publisher:London: Nature Publishing Group UK
Journal title:NPJ Parkinson's Disease, 2023-12, Vol.9 (1), p.160-160, Article 160
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Author / Creator:Campion, Lindsey N ; Mejia Maza, Alan ; Yadav, Rachita ; Penney, Ellen B ; Murcar, Micaela G ; Correia, Kevin ; Gillis, Tammy ; Fernandez-Cerado, Cara ; Velasco-Andrada, M Salvie ; Legarda, G Paul ; Ganza-Bautista, Niecy G ; Lagarde, J Benedict B ; Acuña, Patrick J ; Multhaupt-Buell, Trisha ; Aldykiewicz, Gabrielle ; Supnet, Melanie L ; De Guzman, Jan K ; Go, Criscely ; Sharma, Nutan ; Munoz, Edwin L ; Ang, Mark C ; Diesta, Cid Czarina E ; Bragg, D Cristopher ; Ozelius, Laurie J ; Wheeler, Vanessa C
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-04, Vol.10 (1), p.49-49, Article 49
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
Author / Creator:Campion, Lindsey N ; Mejia Maza, Alan ; Yadav, Rachita ; Penney, Ellen B ; Murcar, Micaela G ; Correia, Kevin ; Gillis, Tammy ; Fernandez-Cerado, Cara ; Velasco-Andrada, M Salvie ; Legarda, G Paul ; Ganza-Bautista, Niecy G ; Lagarde, J Benedict B ; Acuña, Patrick J ; Multhaupt-Buell, Trisha ; Aldykiewicz, Gabrielle ; Supnet, Melanie L ; De Guzman, Jan K ; Go, Criscely ; Sharma, Nutan ; Munoz, Edwin L ; Ang, Mark C ; Diesta, Cid Czarina E ; Bragg, D Cristopher ; Ozelius, Laurie J ; Wheeler, Vanessa C
Publisher:England: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-04, Vol.10 (1), p.62-62, Article 62
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
Author / Creator:Bragg, D. Cristopher ; Mangkalaphiban, Kotchaphorn ; Vaine, Christine A. ; Kulkarni, Nichita J. ; Shin, David ; Yadav, Rachita ; Dhakal, Jyotsna ; Ton, Mai-Linh ; Cheng, Anne ; Russo, Christopher T. ; Ang, Mark ; Acuña, Patrick ; Go, Criscely ; Franceour, Taylor N. ; Multhaupt-Buell, Trisha ; Ito, Naoto ; Müller, Ulrich ; Hendriks, William T. ; Breakefield, Xandra O. ; Sharma, Nutan ; Ozelius, Laurie J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2017-12, Vol.114 (51), p.E11020-E11028
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Mutations in GNAL cause primary torsion dystonia
Author / Creator:Fuchs, Tania ; Saunders-Pullman, Rachel ; Masuho, Ikuo ; Luciano, Marta San ; Raymond, Deborah ; Factor, Stewart ; Lang, Anthony E ; Liang, Tsao-Wei ; Trosch, Richard M ; White, Sierra ; Ainehsazan, Edmond ; Hervé, Denis ; Sharma, Nutan ; Ehrlich, Michelle E ; Martemyanov, Kirill A ; Bressman, Susan B ; Ozelius, Laurie J
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2013-01, Vol.45 (1), p.88-92
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Clinical spectrum of disease associated with ATP1A3 mutations
Author / Creator:Ozelius, Laurie J
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2012-09, Vol.11 (9), p.741-743
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins
Author / Creator:Carmi, Shai ; Hui, Ken Y. ; Kochav, Ethan ; Liu, Xinmin ; Xue, James ; Grady, Fillan ; Guha, Saurav ; Upadhyay, Kinnari ; Ben-Avraham, Dan ; Mukherjee, Semanti ; Bowen, B. Monica ; Thomas, Tinu ; Vijai, Joseph ; Cruts, Marc ; Froyen, Guy ; Lambrechts, Diether ; Plaisance, Stéphane ; Van Broeckhoven, Christine ; Van Damme, Philip ; Van Marck, Herwig ; Barzilai, Nir ; Darvasi, Ariel ; Offit, Kenneth ; Bressman, Susan ; Ozelius, Laurie J. ; Peter, Inga ; Cho, Judy H. ; Ostrer, Harry ; Atzmon, Gil ; Clark, Lorraine N. ; Lencz, Todd ; Pe’er, Itsik
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2014-09, Vol.5 (1), p.4835-4835, Article 4835
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Author / Creator:Laabs, Björn-Hergen ; Klein, Christine ; Pozojevic, Jelena ; Domingo, Aloysius ; Brüggemann, Norbert ; Grütz, Karen ; Rosales, Raymond L. ; Jamora, Roland Dominic ; Saranza, Gerard ; Diesta, Cid Czarina E. ; Wittig, Michael ; Schaake, Susen ; Dulovic-Mahlow, Marija ; Quismundo, Jana ; Otto, Pia ; Acuna, Patrick ; Go, Criscely ; Sharma, Nutan ; Multhaupt-Buell, Trisha ; Müller, Ulrich ; Hanssen, Henrike ; Kilpert, Fabian ; Franke, Andre ; Rolfs, Arndt ; Bauer, Peter ; Dobričić, Valerija ; Lohmann, Katja ; Ozelius, Laurie J. ; Kaiser, Frank J. ; König, Inke R. ; Westenberger, Ana
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-05, Vol.12 (1), p.1-8, Article 3216
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
LRRK2 G2019S as a Cause of Parkinson's Disease in Ashkenazi Jews
Author / Creator:Klein, Christine ; Risch, Neil ; Ozelius, Laurie J ; Bressman, Susan B ; Henick, Brian ; Soto-Valencia, Jeannie ; Saunders-Pullman, Rachel ; Hailpern, Susan M ; Ohmann, Erin ; Senthil, Geetha ; Lipton, Richard B ; Deligtisch, Amanda ; Tagliati, Michele ; Hunt, Ann L
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2006-01, Vol.354 (4), p.424-425
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression
Author / Creator:Ortega, Roberto A ; Wang, Cuiling ; Raymond, Deborah ; Bryant, Nicole ; Scherzer, Clemens R ; Thaler, Avner ; Alcalay, Roy N ; West, Andrew B ; Mirelman, Anat ; Kuras, Yuliya ; Marder, Karen S ; Giladi, Nir ; Ozelius, Laurie J ; Bressman, Susan B ; Saunders-Pullman, Rachel
Publisher:United States: American Medical Association
Journal title:JAMA network open, 2021-04, Vol.4 (4), p.e215845-e215845
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Pallidal deep brain stimulation for DYT6 dystonia
Author / Creator:Panov, Fedor ; Tagliati, Michele ; Ozelius, Laurie J ; Fuchs, Tania ; Gologorsky, Yakov ; Cheung, Tyler ; Avshalumov, Marat ; Bressman, Susan B ; Saunders-Pullman, Rachel ; Weisz, Donald ; Alterman, Ron L
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2012-02, Vol.83 (2), p.182-187
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 55 results

Search the collection

Export record to excel

Export this record

Export record to excel

Distinct neurological disorders with ATP1A3 mutations

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

ATP1A3 Mutation in Adult Rapid-Onset Ataxia

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation

Export this record

Export record to excel

Mutations in THAP1 ( DYT6 ) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

Export this record

Export record to excel

A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

Export this record

Export record to excel

Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease

Export this record

Export record to excel

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Export this record

Export record to excel

Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Export this record

Export record to excel

Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1

Export this record

Export record to excel

Mutations in GNAL cause primary torsion dystonia

Export this record

Export record to excel

Clinical spectrum of disease associated with ATP1A3 mutations

Export this record

Export record to excel

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins

Export this record

Export record to excel

Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism

Export this record

Export record to excel

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

Export this record

Export record to excel

Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression

Export this record

Export record to excel

Pallidal deep brain stimulation for DYT6 dystonia

Refine your search