Genetic and clinical features of primary torsion dystonia

by Laurie J. Ozelius, Susan B. Bressman
Published 2011-05-01

Neural endophenotypes and predictors of laryngeal dystonia penetrance and manifestation

by Sanaz Khosravani, Gang Chen, Laurie J. Ozelius, Kristina Simonyan
Published 2021-01-01

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

by Ioanna A. Armata, Andreas I. Diplas, Laurie J. Ozelius, Pullanipally Shashidharan
Published 2012-01-01

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

by Kathleen J Sweadner, Camilo Toro, Christopher T Whitlow, Beverly M Snively, Jared F Cook, Laurie J Ozelius, Thomas C Markello, Allison Brashear
Published 2016-01-01

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

by Yi Bessie Liu, Ambika Tewari, Johnny Salameh, Elena Arystarkhova, Thomas G Hampton, Allison Brashear, Laurie J Ozelius, Kamran Khodakhah, Kathleen J Sweadner
Published 2015-12-01

TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

by 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
Published 2003-02-01

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

by Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P Zwaka, Laurie J Ozelius, Robert D Blitzer, Pedro Gonzalez-Alegre, Michelle E Ehrlich
Published 2018-01-01

Neural correlates of abnormal sensory discrimination in laryngeal dystonia

by Pichet Termsarasab, Ritesh A. Ramdhani, Giovanni Battistella, Estee Rubien-Thomas, Melissa Choy, Ian M. Farwell, Miodrag Velickovic, Andrew Blitzer, Steven J. Frucht, Richard B. Reilly, Michael Hutchinson, Laurie J. Ozelius, Kristina Simonyan
Published 2016-01-01

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition

by Elena Arystarkhova, Ihtsham U. Haq, Timothy Luebbert, Fanny Mochel, Rachel Saunders-Pullman, Susan B. Bressman, Polina Feschenko, Cynthia Salazar, Jared F. Cook, Scott Demarest, Allison Brashear, Laurie J. Ozelius, Kathleen J. Sweadner
Published 2019-12-01

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities

by Ai Huey Tan, Tien Lee Ong, Norlisah Ramli, Li Kuo Tan, Jia Lun Lim, Mohamad Addin Azhan, Azlina Ahmad-Annuar, Khairul Azmi Ibrahim, Zariah Abdul-Aziz, Laurie J. Ozelius, Allison Brashear, Shen-Yang Lim
Published 2019-05-01

THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation

by Francesca Aguilo, Zuchra Zakirova, Katie Nolan, Ryan Wagner, Rajal Sharma, Megan Hogan, Chengguo Wei, Yifei Sun, Martin J. Walsh, Kevin Kelley, Weijia Zhang, Laurie J. Ozelius, Pedro Gonzalez-Alegre, Thomas P. Zwaka, Michelle E. Ehrlich
Published 2017-07-01

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

by Lilian Cruz, Bence György, Pike See Cheah, Benjamin P. Kleinstiver, William A. Eimer, Sara P. Garcia, Nutan Sharma, Laurie J. Ozelius, D. Cristopher Bragg, J. Keith Joung, Osmar Norberto de Souza, Luis Fernando Saraiva Macedo Timmers, Xandra O. Breakefield
Published 2020-09-01

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

by Takashi Tsuboi, Takashi Tsuboi, Laura Cif, Philippe Coubes, Jill L. Ostrem, Danilo A. Romero, Yasushi Miyagi, Andres M. Lozano, Andres M. Lozano, Philippe De Vloo, Philippe De Vloo, Ihtsham Haq, Fangang Meng, Nutan Sharma, Laurie J. Ozelius, Aparna Wagle Shukla, James H. Cauraugh, Kelly D. Foote, Michael S. Okun
Published 2020-06-01

Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

by Tiziana Petrozziello, Alexandra N. Mills, Christine A. Vaine, Ellen B. Penney, Cara Fernandez-Cerado, Gierold Paul A. Legarda, M. Salvie Velasco-Andrada, Patrick J. Acuña, Mark A. Ang, Edwin L. Muñoz, Cid Czarina E. Diesta, Regina Macalintal-Canlas, Geraldine Acuña-Sunshine, Laurie J. Ozelius, Nutan Sharma, D. Cristopher Bragg, Ghazaleh Sadri-Vakili
Published 2020-10-01

SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene.

by Tiziana Petrozziello, Amanda M Dios, Kaly A Mueller, Christine A Vaine, William T Hendriks, Kelly E Glajch, Alexandra N Mills, Kotchaphorn Mangkalaphiban, Ellen B Penney, Naoto Ito, Cara Fernandez-Cerado, Gierold Paul A Legarda, M Salvie Velasco-Andrada, Patrick J Acuña, Mark A Ang, Edwin L Muñoz, Cid Czarina E Diesta, Regina Macalintal-Canlas, Geraldine Acuña, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg, Ghazaleh Sadri-Vakili
Published 2020-01-01

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

by Björn-Hergen Laabs, Christine Klein, Jelena Pozojevic, Aloysius Domingo, Norbert Brüggemann, Karen Grütz, Raymond L. Rosales, Roland Dominic Jamora, Gerard Saranza, Cid Czarina E. Diesta, Michael Wittig, Susen Schaake, Marija Dulovic-Mahlow, Jana Quismundo, Pia Otto, Patrick Acuna, Criscely Go, Nutan Sharma, Trisha Multhaupt-Buell, Ulrich Müller, Henrike Hanssen, Fabian Kilpert, Andre Franke, Arndt Rolfs, Peter Bauer, Valerija Dobričić, Katja Lohmann, Laurie J. Ozelius, Frank J. Kaiser, Inke R. König, Ana Westenberger
Published 2021-05-01