843 results on '"Ozelius, Laurie"'
Search Results
2. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease
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Lai, Dongbing, Alipanahi, Babak, Fontanillas, Pierre, Schwantes‐An, Tae‐Hwi, Aasly, Jan, Alcalay, Roy N, Beecham, Gary W, Berg, Daniela, Bressman, Susan, Brice, Alexis, Brockman, Kathrin, Clark, Lorraine, Cookson, Mark, Das, Sayantan, Van Deerlin, Vivianna, Follett, Jordan, Farrer, Matthew J, Trinh, Joanne, Gasser, Thomas, Goldwurm, Stefano, Gustavsson, Emil, Klein, Christine, Lang, Anthony E, Langston, J William, Latourelle, Jeanne, Lynch, Timothy, Marder, Karen, Marras, Connie, Martin, Eden R, McLean, Cory Y, Mejia‐Santana, Helen, Molho, Eric, Myers, Richard H, Nuytemans, Karen, Ozelius, Laurie, Payami, Haydeh, Raymond, Deborah, Rogaeva, Ekaterina, Rogers, Michael P, Ross, Owen A, Samii, Ali, Saunders‐Pullman, Rachel, Schüle, Birgitt, Schulte, Claudia, Scott, William K, Tanner, Caroline, Tolosa, Eduardo, Tomkins, James E, Vilas, Dolores, Trojanowski, John Q, Team, The 23andMe Research, Uitti, Ryan, Vance, Jeffery M, Visanji, Naomi P, Wszolek, Zbigniew K, Zabetian, Cyrus P, Mirelman, Anat, Giladi, Nir, Urtreger, Avi Orr, Cannon, Paul, Fiske, Brian, and Foroud, Tatiana
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Aging ,Genetics ,Brain Disorders ,Prevention ,Parkinson's Disease ,Neurodegenerative ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Aged ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Male ,Middle Aged ,Mutation ,Parkinson Disease ,Penetrance ,23andMe Research Team ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveThe aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.MethodsWe performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers.ResultsA variant located in the intronic region of CORO1C on chromosome 12 (rs77395454; p value = 2.5E-08, beta = 1.27, SE = 0.23, risk allele: C) met genomewide significance for the penetrance model. Co-immunoprecipitation analyses of LRRK2 and CORO1C supported an interaction between these 2 proteins. A region on chromosome 3, within a previously reported linkage peak for Parkinson's disease susceptibility, showed suggestive associations in both models (penetrance top variant: p value = 1.1E-07; age-at-onset top variant: p value = 9.3E-07). A polygenic risk score derived from publicly available Parkinson's disease summary statistics was a significant predictor of penetrance, but not of age-at-onset.InterpretationThis study suggests that variants within or near CORO1C may modify the penetrance of LRRK2 mutations. In addition, common Parkinson's disease associated variants collectively increase the penetrance of LRRK2 mutations. ANN NEUROL 2021;90:82-94.
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- 2021
3. Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities.
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Simonyan, Kristina, Barkmeier-Kraemer, Julie, Blitzer, Andrew, Hallett, Mark, Houde, John, Jacobson Kimberley, Teresa, Ozelius, Laurie, Pitman, Michael, Richardson, Robert, Sharma, Nutan, and Tanner, Kristine
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Dysphonia ,Dystonia ,Humans - Abstract
OBJECTIVE: To delineate research priorities for improving clinical management of laryngeal dystonia, the NIH convened a multidisciplinary panel of experts for a 1-day workshop to examine the current progress in understanding its etiopathophysiology and clinical care. METHODS: The participants reviewed the current terminology of disorder and discussed advances in understanding its pathophysiology since a similar workshop was held in 2005. Clinical and research gaps were identified, and recommendations for future directions were delineated. RESULTS: The panel unanimously agreed to adopt the term laryngeal dystonia instead of spasmodic dysphonia to reflect the current progress in characterizations of this disorder. Laryngeal dystonia was recognized as a multifactorial, phenotypically heterogeneous form of isolated dystonia. Its etiology remains unknown, whereas the pathophysiology likely involves large-scale functional and structural brain network disorganization. Current challenges include the lack of clinically validated diagnostic markers and outcome measures and the paucity of therapies that address the disorder pathophysiology. CONCLUSION: Research priorities should be guided by challenges in clinical management of laryngeal dystonia. Identification of disorder-specific biomarkers would allow the development of novel diagnostic tools and unified measures of treatment outcome. Elucidation of the critical nodes within neural networks that cause or modulate symptoms would allow the development of targeted therapies that address the underlying pathophysiology. Given the rarity of laryngeal dystonia, future rapid research progress may be facilitated by multicenter, national and international collaborations.
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- 2021
4. Dystonia
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Stephen, Christopher D., primary, Simonyan, Kristina, additional, Ozelius, Laurie, additional, Breakefield, Xandra O., additional, and Sharma, Nutan, additional
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- 2023
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5. Contributors
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Abdulai-Saiku, Samira, primary, Appel, Stanley H., additional, Arnold, Arthur P., additional, Arnold, Lisa M., additional, Arnold, Robert M., additional, Bacha, Alexa, additional, Backonja, Miroslav “Misha”, additional, Bailey, Zinzi D., additional, Bateman, Lucinda, additional, Beers, David R., additional, Berti, Anna, additional, Bhatnagar, Mamta, additional, Binder, Devin K., additional, Boido, Marina, additional, Boldrini, Maura, additional, Borsook, David, additional, Breakefield, Xandra O., additional, Brown, Robert H., additional, Burstein, Rami, additional, Butelman, Eduardo R., additional, Caplan, Louis R., additional, Chen, S., additional, Chesselet, Marie-Françoise, additional, Clemens, Stefan, additional, Clemens, Paula R., additional, Coyle, Joseph T., additional, DeWitt, John C., additional, Dubal, Dena B., additional, Dubljević, Veljko, additional, Feldman, Eva L., additional, Fischer, Beth A., additional, Flux, M.C., additional, Fortin, J.S., additional, Frasca, Angelisa, additional, Garbarini, Francesca, additional, Gasser, Thomas, additional, Gillespie, Charles F., additional, Gold, Michael S., additional, Gold, Stefan M., additional, Hagerman, Randi, additional, Hamel, Regan, additional, Haney, Craig, additional, Harris, James C., additional, Hassani, Sara, additional, Haughey, Norman J., additional, Heng, Vibol, additional, Horn, J., additional, Ionescu, Rosana-Bristena, additional, Iorio, Raffaele, additional, Irwin, David J., additional, Kaminski, Henry J., additional, Khammash, Dalia, additional, Khurana, Vikram, additional, Kilstrup-Nielsen, Charlotte, additional, Kim, Bhumsoo, additional, Kim, Boram, additional, Klein, Marieke, additional, Koen, Nastassja, additional, Konopaske, Glenn T., additional, Korecka, Joanna A., additional, Kornum, Birgitte Rahbek, additional, Kreek, Mary Jeanne, additional, Kristensson, Krister, additional, Krzak, Grzegorz, additional, Kusner, Linda L., additional, Landsberger, Nicoletta, additional, Lee, Edward B., additional, Li, Tong, additional, Liberski, Paweł P., additional, Lochner, Christine, additional, Lowry, Christopher A., additional, Mann, J. John, additional, Marincowitz, Clara, additional, Mayer, E.A., additional, Mayer, E.D., additional, McCall, Iris Coates, additional, McCullough, Louise D., additional, Meaney, Michael J., additional, Melo de Gusmao, Claudio, additional, Menesgere, Abhishek L., additional, Mignot, Emmanuel, additional, Mobley, William C., additional, Montalvo, Mayra, additional, Moreland-Capuia, Alisha R., additional, Neppi-Modona, Marco, additional, Nicaise, Alexandra M., additional, Nishi, Rae, additional, O'Toole, Orna, additional, Overk, Cassia, additional, Ozelius, Laurie, additional, Parsons, Matthew P., additional, Penticoff, H.B., additional, Peruzzotti-Jametti, Luca, additional, Peters, Owen M., additional, Peterson, Allison, additional, Phan, Jessica M., additional, Pittock, Sean J., additional, Pluchino, Stefano, additional, Polk, Thad A., additional, Puwanant, Araya, additional, Rajagopal, Shreya K., additional, Ravindranath, Vijayalakshmi, additional, Raymond, Lynn A., additional, Reed, Brian, additional, Ressler, Kerry J., additional, Ritchie, Diane L., additional, Rubin, Leah H., additional, Sakowski, Stacey A., additional, Saporta, Mario A., additional, Savonenko, Alena V., additional, Scharfman, Helen E., additional, Shapiro, Bruce K., additional, Sharma, Nutan, additional, Shaw, Cayce K., additional, Shy, Michael E., additional, Sikorska, Beata, additional, Silverman, Ethan J., additional, Simon, Roger P., additional, Simonyan, Kristina, additional, Sims-Robinson, Catrina, additional, Smeyne, Richard Jay, additional, Smith, Clay, additional, Smith, Colin, additional, Srinivasan, Sharan R., additional, Stein, Dan J., additional, Stephen, Christopher D., additional, Subramanian, Indu, additional, Szabo, Edina, additional, Thomas, Alissa A., additional, Tovar-y-Romo, Luis B., additional, Vahabzadeh, Arshya, additional, Vercelli, Alessandro, additional, Viera-Ortiz, Ashley, additional, Wallin, Mitchell T., additional, Werling, Donna M., additional, Wichmann, Thomas, additional, Wiley, Clayton A., additional, Williams, David R., additional, Willis, Cory, additional, Wong, Philip C., additional, Yuferov, Vadim, additional, Zhao, Weihua, additional, Zigmond, Michael J., additional, and Živković, Saša A., additional
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- 2023
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6. Defining research priorities in dystonia.
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Lungu, Codrin, Ozelius, Laurie, Standaert, David, Hallett, Mark, Sieber, Beth-Anne, Swanson-Fisher, Christine, Berman, Brian D, Calakos, Nicole, Moore, Jennifer C, Perlmutter, Joel S, Pirio Richardson, Sarah E, Saunders-Pullman, Rachel, Scheinfeldt, Laura, Sharma, Nutan, Sillitoe, Roy, Simonyan, Kristina, Starr, Philip A, Taylor, Anna, and Vitek, Jerrold
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Medical Biotechnology ,Biomedical and Clinical Sciences ,Neurodegenerative ,Dystonia ,Rare Diseases ,Neurosciences ,Animals ,Dystonic Disorders ,Humans ,Neurology ,Research ,participants and organizers of the NINDS Workshop on Research Priorities in Dystonia ,Clinical Sciences ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveDystonia is a complex movement disorder. Research progress has been difficult, particularly in developing widely effective therapies. This is a review of the current state of knowledge, research gaps, and proposed research priorities.MethodsThe NIH convened leaders in the field for a 2-day workshop. The participants addressed the natural history of the disease, the underlying etiology, the pathophysiology, relevant research technologies, research resources, and therapeutic approaches and attempted to prioritize dystonia research recommendations.ResultsThe heterogeneity of dystonia poses challenges to research and therapy development. Much can be learned from specific genetic subtypes, and the disorder can be conceptualized along clinical, etiology, and pathophysiology axes. Advances in research technology and pooled resources can accelerate progress. Although etiologically based therapies would be optimal, a focus on circuit abnormalities can provide a convergent common target for symptomatic therapies across dystonia subtypes. The discussions have been integrated into a comprehensive review of all aspects of dystonia.ConclusionOverall research priorities include the generation and integration of high-quality phenotypic and genotypic data, reproducing key features in cellular and animal models, both of basic cellular mechanisms and phenotypes, leveraging new research technologies, and targeting circuit-level dysfunction with therapeutic interventions. Collaboration is necessary both for collection of large data sets and integration of different research methods.
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- 2020
7. Cervical dystonia incidence and diagnostic delay in a multiethnic population.
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LaHue, Sara, Albers, Kathleen, Goldman, Samuel, Lo, Raymond, Gu, Zhuqin, Leimpeter, Amethyst, Fross, Robin, Comyns, Kathleen, Marras, Connie, de Kleijn, Annelie, Smit, Robin, Katz, Maya, Ozelius, Laurie, Bressman, Susan, Saunders-Pullman, Rachel, Comella, Cynthia, Klingman, Jeffrey, Nelson, Lorene, Van Den Eeden, Stephen, and Tanner, Caroline
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cervical dystonia ,diagnostic delay ,incidence ,Delayed Diagnosis ,Female ,Humans ,Incidence ,Logistic Models ,Male ,Odds Ratio ,Torticollis - Abstract
BACKGROUND: Current cervical dystonia (CD) incidence estimates are based on small numbers in relatively ethnically homogenous populations. The frequency and consequences of delayed CD diagnosis is poorly characterized. OBJECTIVES: To determine CD incidence and characterize CD diagnostic delay within a large, multiethnic integrated health maintenance organization. METHODS: We identified incident CD cases using electronic medical records and multistage screening of more than 3 million Kaiser Permanente Northern California members from January 1, 2003, to December 31, 2007. A final diagnosis was made by movement disorders specialist consensus. Diagnostic delay was measured by questionnaire and health utilization data. Incidence rates were estimated assuming a Poisson distribution of cases and directly standardized to the 2000 U.S. census. Multivariate logistic regression models were employed to assess diagnoses and behaviors preceding CD compared with matched controls, adjusting for age, sex, and membership duration. RESULTS: CD incidence was 1.18/100,000 person-years (95% confidence interval [CI], 0.35-2.0; women, 1.81; men, 0.52) based on 200 cases over 15.4 million person-years. Incidence increased with age. Half of the CD patients interviewed reported diagnostic delay. Diagnoses more common in CD patients before the index date included essential tremor (odds ratio [OR] 68.1; 95% CI, 28.2-164.5), cervical disc disease (OR 3.83; 95% CI, 2.8-5.2), neck sprain/strain (OR 2.77; 95% CI, 1.99-3.62), anxiety (OR 2.24; 95% CI, 1.63-3.11) and depression (OR 1.94; 95% CI, 1.4-2.68). CONCLUSIONS: CD incidence is greater in women and increases with age. Diagnostic delay is common and associated with adverse effects. © 2019 International Parkinson and Movement Disorder Society.
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- 2020
8. Secondary Worsening Following DYT1 Dystonia Deep Brain Stimulation: A Multi-country Cohort
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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, Shukla, Aparna Wagle, Cauraugh, James H, Foote, Kelly D, and Okun, Michael S
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Biomedical and Clinical Sciences ,Clinical Sciences ,Neurosciences ,Bioengineering ,Rehabilitation ,Dystonia ,Rare Diseases ,Neurodegenerative ,Assistive Technology ,Clinical Research ,DYT1 ,dystonia ,deep brain stimulation ,globus pallidus internus ,pallidum ,Psychology ,Cognitive Sciences ,Experimental Psychology ,Biological psychology ,Cognitive and computational psychology - Abstract
Objective: To reveal clinical characteristics of suboptimal responses to deep brain stimulation (DBS) in a multi-country DYT1 dystonia cohort. Methods: In this multi-country multi-center retrospective study, we analyzed the clinical data of DYT1 patients who experienced suboptimal responses to DBS defined as 30% postoperatively; however, secondary worsening of dystonia commenced between 6 months and 3 years following DBS. The improvement at the last follow-up was less than 30% despite optimally-placed leads, a trial of multiple programming settings, and additional DBS surgeries in all patients. The on-/off-stimulation comparison at the long-term follow-up demonstrated beneficial effects of DBS despite missing the threshold of 30% improvement over baseline. Conclusion: Approximately 8% of patients represent a more aggressive phenotype of DYT1 dystonia characterized by younger age at onset, faster disease progression, and cranial involvement, which seems to be associated with long-term suboptimal responses to DBS (e.g., secondary worsening). This information could be useful for both clinicians and patients in clinical decision making and patient counseling before and following DBS implantations. Patients with this phenotype may have different neuroplasticity, neurogenetics, or possibly distinct neurophysiology.
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- 2020
9. Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome
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Arystarkhova, Elena, Toustrup-Jensen, Mads S., Holm, Rikke, Ko, Jae-Kyun, Lee, Kyung Eun, Feschenko, Polina, Ozelius, Laurie J., Brashear, Allison, Vilsen, Bente, and Sweadner, Kathleen J.
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- 2023
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10. Longitudinal Assessment of Dystonic Symptoms in Rapid-onset Dystonia-Parkinsonism: Genetic Dystonia Symptoms Vary over Time (P8-3.003)
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Haq, Ihtsham, primary, Wheelock, Vicki, additional, Ozelius, Laurie, additional, Snively, Beverly, additional, Napoli, Eleanora, additional, Sweadner, Kathleen, additional, and Brashear, Allison, additional
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- 2024
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11. Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
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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., and Wheeler, Vanessa C.
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- 2022
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12. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
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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., and Wheeler, Vanessa C.
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- 2022
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13. Functional variants in the LRRK2 gene confer shared effects on risk for Crohns disease and Parkinsons disease.
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Hui, Ken, Fernandez-Hernandez, Heriberto, Hu, Jianzhong, Schaffner, Adam, Pankratz, Nathan, Hsu, Nai-Yun, Chuang, Ling-Shiang, Carmi, Shai, Villaverde, Nicole, Li, Xianting, Rivas, Manual, Levine, Adam, Bao, Xiuliang, Labrias, Philippe, Haritunians, Talin, Ruane, Darren, Gettler, Kyle, Chen, Ernie, Li, Dalin, Schiff, Elena, Pontikos, Nikolas, Barzilai, Nir, Brant, Steven, Bressman, Susan, Cheifetz, Adam, Clark, Lorraine, Daly, Mark, Desnick, Robert, Duerr, Richard, Katz, Seymour, Lencz, Todd, Myers, Richard, Ostrer, Harry, Ozelius, Laurie, Payami, Haydeh, Peter, Yakov, Rioux, John, Segal, Anthony, Scott, William, Silverberg, Mark, Vance, Jeffery, Ubarretxena-Belandia, Iban, Foroud, Tatiana, Atzmon, Gil, Peer, Itsik, Ioannou, Yiannis, McGovern, Dermot, Yue, Zhenyu, Schadt, Eric, Cho, Judy, and Peter, Inga
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Alleles ,Autophagy ,Crohn Disease ,Cytoskeleton ,Exome ,Gene Frequency ,Gene Regulatory Networks ,Genetic Loci ,Genetic Predisposition to Disease ,Genetic Variation ,Genome ,Human ,Humans ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Macrophages ,Odds Ratio ,Open Reading Frames ,Parkinson Disease ,Phenotype ,Reproducibility of Results ,Risk Factors ,Exome Sequencing - Abstract
Crohns disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10-10) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3.3 × 10-8). These variants affected CD age of onset, disease location, LRRK2 activity, and autophagy. Bayesian network analysis of CD patient intestinal tissue further implicated LRRK2 in CD pathogenesis. Analysis of the extended LRRK2 locus in 24,570 CD cases, patients with Parkinsons disease (PD), and healthy controls revealed extensive pleiotropy, with shared genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The LRRK2 N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD. Like the G2019S mutation, the N2081D variant was associated with increased kinase activity, whereas neither N551K nor R1398H variants on the protective haplotype altered kinase activity. We also confirmed that R1398H, but not N551K, increased guanosine triphosphate binding and hydrolyzing enzyme (GTPase) activity, thereby deactivating LRRK2. The presence of shared LRRK2 alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases.
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- 2018
14. Genome-wide association analysis identifies PLA2G4C as a susceptibility locus for Multiple System Atrophy
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Tsuji, Shoji, primary, Nakahara, Yasuo, additional, Mitsui, Jun, additional, Date, Hidetoshi, additional, Porto, Kristine Joyce, additional, Hyashi, Yasuhiro, additional, Yamashita, Atsushi, additional, Kusakabe, Yoshio, additional, Matsukawa, Takashi, additional, Ishiura, Hiroyuki, additional, Yasuda, Tsutomu, additional, Iwata, Atsushi, additional, Goto, Jun, additional, Ichikawa, Yaeko, additional, Momose, Yoshio, additional, Takahashi, Yuji, additional, Toda, Tatsushi, additional, Ohta, Rikifumi, additional, Yoshimura, Jun, additional, Morishita, Shinichi, additional, Gustavsson, Emil, additional, Christy, Darren, additional, Maczis, Melisa, additional, Kim, Han-Joon, additional, Park, Sung-Sup, additional, Zhang, Jin, additional, Gu, Weihong, additional, Scholz, Sonja, additional, Chelban, Viorica, additional, Mok, Kin, additional, Houlden, Henry, additional, Yabe, Ichiro, additional, Sasaki, Hidenao, additional, Matsushima, Masaaki, additional, Takashima, Hiroshi, additional, Kikuchi, Akio, additional, Aoki, Masashi, additional, Hara, Kenju, additional, Kakita, Akiyoshi, additional, Yamada, Mitsunori, additional, Takahashi, Hitoshi, additional, Onodera, Osamu, additional, Nishizawa, Masatoyo, additional, Watanabe, Hirohisa, additional, Ito, Mizuki, additional, Sobue, Gen, additional, Ishikawa, Kinya, additional, Mizusawa, Hidehiro, additional, Kanai, Kazuaki, additional, Kuwabara, Satoshi, additional, Arai, Kimihito, additional, Koyano, Shigeru, additional, Kuroiwa, Yoshiyuki, additional, Hasegawa, Kazuko, additional, Yuasa, Tatsuhiko, additional, Yasui, Kenichi, additional, Nakashima, Kenji, additional, Ito, Hijiri, additional, Izumi, Yuishin, additional, Kaji, Ryuji, additional, kato, Takeo, additional, Kusunoki, Susumu, additional, Osaki, Yasushi, additional, Horiuchi, Masahiro, additional, Yamamoto, Ken, additional, Shimada, Mihoko, additional, Miyagawa, Taku, additional, Kawai, Yosuke, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Durr, Alexandra, additional, Brice, Alexis, additional, Filla, Alessandro, additional, Klockgether, Thomas, additional, Wuellner, Ullrich, additional, Tanner, Caroline, additional, Kukull, Walter, additional, Lee, Virginia, additional, Masliah, Eliezer, additional, Low, Phillip, additional, Sandroni, Paola, additional, Ozelius, Laurie, additional, Foroud, Tatiana, additional, Farrer, Matthew, additional, and Trojanowski, John, additional
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- 2024
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15. Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders
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Rosewich, Hendrik, Sweney, Matthew T, DeBrosse, Suzanne, Ess, Kevin, Ozelius, Laurie, Andermann, Eva, Andermann, Frederick, Andrasco, Gene, Belgrade, Alice, Brashear, Allison, Ciccodicola, Sharon, Egan, Lynn, George, Alfred L, Lewelt, Aga, Magelby, Joshua, Merida, Mario, Newcomb, Tara, Platt, Vicky, Poncelin, Dominic, Reyna, Sandra, Sasaki, Masayuki, Sotero de Menezes, Marcio, Sweadner, Kathleen, Viollet, Louis, Zupanc, Mary, Silver, Kenneth, and Swoboda, Kathryn
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Reproductive Medicine ,Biomedical and Clinical Sciences ,Prevention ,Pediatric ,Neurosciences ,Neurodegenerative ,Rare Diseases ,Clinical Research ,Genetics ,Clinical sciences - Abstract
ObjectiveATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism.MethodsIn 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders.ResultsWorkshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts.ConclusionsThis report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possible ATP1A3 mutations, providing recommendations for genetic testing, and outlining initial acute management for common recurrent clinical conditions, including epilepsy.
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- 2017
16. Isolated dystonia: clinical and genetic updates
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Domingo, Aloysius, Yadav, Rachita, and Ozelius, Laurie J.
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- 2021
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17. Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism
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Fernandez-Cerado, Cara, Legarda, G. Paul, Velasco-Andrada, M. Salvie, Aguil, Abegail, Ganza-Bautista, Niecy G., Lagarde, J. Benedict B., Soria, Jasmin, Jamora, Roland Dominic G., Acuña, Patrick J., Vanderburg, Charles, Sapp, Ellen, DiFiglia, Marian, Murcar, Micaela G., Campion, Lindsey, Ozelius, Laurie J., Alessi, Amy K., Singh-Bains, Malvindar K., Waldvogel, Henry J., Faull, Richard L. M., Macalintal-Canlas, Regina, Muñoz, Edwin L., Penney, Ellen B., Ang, Mark A., Diesta, Cid Czarina E., Bragg, D. Cristopher, and Acuña-Sunshine, Geraldine
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- 2021
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18. Monogenic variants in dystonia: an exome-wide sequencing study
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Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, and Winkelmann, Juliane
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- 2020
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19. REM sleep behavior disorder, as assessed by questionnaire, in G2019S LRRK2 mutation PD and carriers
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Saunders‐Pullman, Rachel, Alcalay, Roy N, Mirelman, Anat, Wang, Cuiling, San Luciano, Marta, Ortega, Roberto A, Glickman, Amanda, Raymond, Deborah, Mejia‐Santana, Helen, Doan, Nancy, Johannes, Brooke, Yasinovsky, Kira, Ozelius, Laurie, Clark, Lorraine, Orr‐Utreger, Avi, Marder, Karen, Giladi, Nir, Bressman, Susan B, and Consortium, the AJ LRRK2
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Biomedical and Clinical Sciences ,Ophthalmology and Optometry ,Brain Disorders ,Neurosciences ,Aging ,Parkinson's Disease ,Neurodegenerative ,Sleep Research ,Clinical Research ,Neurological ,Adult ,Aged ,Female ,Glutamine ,Humans ,Judaism ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Male ,Middle Aged ,Mutation ,Parkinson Disease ,Protein Serine-Threonine Kinases ,Serine ,Sleep Deprivation ,Surveys and Questionnaires ,Parkinson's disease ,LRRK2 ,REM Behavior Disorder ,RBDSQ ,preclinical ,AJ LRRK2 Consortium ,Clinical Sciences ,Human Movement and Sports Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
BackgroundRapid eye movement sleep behavior disorder occurs with idiopathic Parkinson's disease (PD) and often precedes PD. Its frequency in LRRK2-PD and utility as a preclinical marker has not been established.MethodsOne hundred forty-four idiopathic PD, 142 LRRK2 G2019S mutation PD, 117 non-manifesting carriers, 93 related noncarriers, and 40 healthy controls completed the Rapid eye movement sleep Behavior Disorder Screening Questionnaire.ResultsCut scores were met by 30.6% idiopathic PD, 19.7% LRRK2-PD, 6% nonmanifesting carriers, 20.4% related noncarriers, and 15% controls. The likelihood of abnormal scores was decreased in LRRK2-PD versus idiopathic PD (odds ratio = 0.55, P = 0.03), nonmanifesting carriers versus related noncarriers (OR = 0.25, P < 0.01), and PD of less than 3 years' duration, 1 of 19 LRRK2-PD versus 14 of 41 idiopathic PD (P < 0.05).ConclusionsA lower frequency of abnormal questionnaire scores is seen in LRRK2-PD, especially in early LRRK2-PD, and in nonmanifesting carriers. Therefore, the Rapid eye movement sleep Behavior Disorder Questionnaire is unlikely to serve as a preclinical marker for phenoconversion to PD.
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- 2015
20. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
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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., and Westenberger, Ana
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- 2021
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21. Age-specific penetrance of LRRK2 G2019S in the Michael J. Fox Ashkenazi Jewish LRRK2 Consortium
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Marder, Karen, Wang, Yuanjia, Alcalay, Roy N, Mejia-Santana, Helen, Tang, Ming-Xin, Lee, Annie, Raymond, Deborah, Mirelman, Anat, Saunders-Pullman, Rachel, Clark, Lorraine, Ozelius, Laurie, Orr-Urtreger, Avi, Giladi, Nir, and Bressman, Susan
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Parkinson's Disease ,Clinical Research ,Aging ,Brain Disorders ,Genetics ,Neurodegenerative ,Age Factors ,Aged ,Cohort Studies ,Female ,Humans ,Jews ,Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ,Male ,Middle Aged ,Parkinson Disease ,Penetrance ,Protein Serine-Threonine Kinases ,LRRK2 Ashkenazi Jewish Consortium ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveEstimates of the penetrance of LRRK2 G2019S vary widely (24%-100%), reflective of differences in ascertainment, age, sex, ethnic group, and genetic and environmental modifiers.MethodsThe kin-cohort method was used to predict penetrance in 2,270 relatives of 474 Ashkenazi Jewish (AJ) Parkinson disease (PD) probands in the Michael J. Fox LRRK2 AJ Consortium in New York and Tel Aviv, Israel. Patients with PD were genotyped for the LRRK2 G2019S mutation and at least 7 founder GBA mutations. GBA mutation carriers were excluded. A validated family history interview, including age at onset of PD and current age or age at death for each first-degree relative, was administered. Neurologic examination and LRRK2 genotype of relatives were included when available.ResultsRisk of PD in relatives predicted to carry an LRRK2 G2019S mutation was 0.26 (95% confidence interval [CI] 0.18-0.36) to age 80 years, and was almost 3-fold higher than in relatives predicted to be noncarriers (hazard ratio [HR] 2.89, 95% CI 1.73-4.55, p < 0.001). The risk among predicted G2019S carrier male relatives (0.22, 95% CI 0.10-0.37) was similar to predicted carrier female relatives (0.29, 95% CI 0.18-0.40; HR male to female: 0.74, 95% CI 0.27-1.63, p = 0.44). In contrast, predicted noncarrier male relatives had a higher risk (0.15, 95% CI 0.11-0.20) than predicted noncarrier female relatives (0.07, 95% CI 0.04-0.10; HR male to female: 2.40, 95% CI 1.50-4.15, p < 0.001).ConclusionPenetrance of LRRK2 G2019S in AJ is only 26% and lower than reported in other ethnic groups. Further study of the genetic and environmental risk factors that influence G2019S penetrance is warranted.
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- 2015
22. Olfactory identification in LRRK2 G2019S mutation carriers: a relevant marker?
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Saunders-Pullman, Rachel, Mirelman, Anat, Wang, Cuiling, Alcalay, Roy N, San Luciano, Marta, Ortega, Robert, Raymond, Deborah, Mejia-Santana, Helen, Ozelius, Laurie, Clark, Lorraine, Orr-Utreger, Avi, Marder, Karen, Giladi, Nir, and Bressman, Susan B
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Clinical Sciences ,Neurosciences - Abstract
ObjectiveOlfactory impairment is a potential marker for impending phenoconversion to Parkinson disease (PD) that may precede the development of disease by several years. Because of low specificity, it may be of greater predictive value in those with genetic mutations and its potential as a marker for developing LRRK2 PD should be evaluated.MethodsWe examined olfactory identification in 126 LRRK2 G2019S mutation carriers with PD, 125 mutation carriers not manifesting PD, 126 noncarriers with idiopathic PD, 106 noncarrier family members without PD, and 35 unrelated controls. We compared olfactory performance and performed mixture modeling to identify possible subgroups of olfactory performance in LRRK2 PD and nonmanifesting carriers.ResultsAdjusting for sex, age, cognitive score, site, and smoking history, LRRK2 PD had better olfactory scores compared to idiopathic PD (mean olfaction difference: -3.7, P < 0.001), and both LRRK2 PD and idiopathic PD had worse olfaction than controls (-12.8, -9.1, both P < 0.001). LRRK2 PD were less likely to be hyposmic than idiopathic PD (54.8% vs. 80.2%, P < 0.001). Nonmanifesting carriers and noncarrier family members did not differ. Mixture model analysis identified three classes in the LRRK2 PD and nonmanifesting carriers, suggesting that there are subgroups with poor olfactory identification in both LRRK2 PD and nonmanifesting carriers.InterpretationTherefore, olfactory identification deficit is less likely to be an obligate feature in LRRK2 PD than idiopathic PD, and while a relevant marker in some, a subset of carriers who eventually phenoconvert may proceed directly to PD without prior impaired olfaction.
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- 2014
23. Heterogeneity in primary dystonia: Lessons from THAP1, GNAL, and TOR1A in Amish‐Mennonites
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Saunders‐Pullman, Rachel, Fuchs, Tania, San Luciano, Marta, Raymond, Deborah, Brashear, Alison, Ortega, Robert, Deik, Andres, Ozelius, Laurie J, and Bressman, Susan B
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Neurodegenerative ,Genetics ,Dystonia ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Adolescent ,Adult ,Aged ,Amish ,Apoptosis Regulatory Proteins ,Child ,Child ,Preschool ,DNA Mutational Analysis ,DNA-Binding Proteins ,Dystonic Disorders ,Family Health ,Female ,GTP-Binding Protein alpha Subunits ,Genetic Predisposition to Disease ,Humans ,Infant ,Male ,Middle Aged ,Molecular Chaperones ,Mutation ,Nuclear Proteins ,Young Adult ,genetics ,dystonia ,THAP1 ,GNAL ,Mennonites ,Amish ,Mennonites ,Human Movement and Sports Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing primary dystonia was originally described in the Amish-Mennonites. However, there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups. Genotyping for THAP1 and for guanine nucleotide binding protein (G protein), α-activating activity polypeptide, olfactory type (GNAL) mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with primary dystonia. Twenty-seven individuals had mutations in THAP1-most with the founder indel mutation-but two had different THAP1 mutations, 8 had mutations in GNAL, and 1 had a de novo GAG deletion in torsin 1A (TOR1A) (dystonia 1 [DYT1]). In the primary analysis comparing THAP1 carriers versus all non-THAP1, non-GNAL, non-TOR1A individuals, age at onset was lower in THAP1 carriers (mean age ± standard deviation, 15.5 ± 9.2 years [range, 5-38 years] vs. 39.2 ± 17.7 years [range, 1-70 years]; P < 0.001), and THAP1 carriers were more likely to have onset of dystonia in an arm (44.4% vs. 15.0%; P = 0.02) and to have arm involvement (88.9% vs. 22.5%; P < 0.01), leg involvement (51.9% vs. 10.0%; P = 0.01), and jaw/tongue involvement (33.3% vs. 7.5%; P = 0.02) involvement at their final examination. Carriers were less likely to have dystonia restricted to a single site (11.11% in carriers vs. 65.9% in noncarriers; P < 0.01) and were less likely to have dystonia onset in cervical regions (25.9% of THAP1 carriers vs. 52.5% of noncarriers; P = 0.04). Primary dystonia in the Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology.
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- 2014
24. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1
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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, and Ozelius, Laurie J.
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- 2017
25. DYT-TUBB4A (DYT4 dystonia): New clinical and genetic observations
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Bally, Julien F., Camargos, Sarah, Oliveira dos Santos, Camila, Kern, Drew S., Lee, Teresa, Pereira da Silva-Junior, Francisco, Puga, Renato David, Cardoso, Francisco, Barbosa, Egberto Reis, Yadav, Rachita, Ozelius, Laurie J., de Carvalho Aguiar, Patricia, and Lang, Anthony E.
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- 2020
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26. Mutations in GNAL cause primary torsion dystonia
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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, and Ozelius, Laurie J
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Adolescent ,Adult ,Age of Onset ,Aged ,Amino Acid Sequence ,Child ,Dystonia Musculorum Deformans ,Family ,Female ,GTP-Binding Protein alpha Subunits ,Gene Order ,Humans ,Male ,Middle Aged ,Molecular Sequence Data ,Mutation ,Phenotype ,Sequence Alignment ,Young Adult ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Dystonia is a movement disorder characterized by repetitive twisting muscle contractions and postures. Its molecular pathophysiology is poorly understood, in part owing to limited knowledge of the genetic basis of the disorder. Only three genes for primary torsion dystonia (PTD), TOR1A (DYT1), THAP1 (DYT6) and CIZ1 (ref. 5), have been identified. Using exome sequencing in two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding p.Ser293* resulting in a premature stop codon in one family and a missense mutation encoding p.Val137Met in the other. Screening of GNAL in 39 families with PTD identified 6 additional new mutations in this gene. Impaired function of several of the mutants was shown by bioluminescence resonance energy transfer (BRET) assays.
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- 2013
27. Genome-wide association study identifies a new susceptibility locus inPLA2G4Cfor Multiple System Atrophy
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Nakahara, Yasuo, primary, Mitsui, Jun, additional, Date, Hidetoshi, additional, Porto, Kristine Joyce, additional, Hayashi, Yasuhiro, additional, Yamashita, Atsushi, additional, Kusakabe, Yoshio, additional, Matsukawa, Takashi, additional, Ishiura, Hiroyuki, additional, Yasuda, Tsutomu, additional, Iwata, Atsushi, additional, Goto, Jun, additional, Ichikawa, Yaeko, additional, Momose, Yoshio, additional, Takahashi, Yuji, additional, Toda, Tatsushi, additional, Ohta, Rikifumi, additional, Yoshimura, Jun, additional, Morishita, Shinichi, additional, Gustavsson, Emil K, additional, Christy, Darren, additional, Maczis, Melissa, additional, Farrer, Matthew J., additional, Kim, Han-Joon, additional, Park, Sung-Sup, additional, Jeon, Beomseok, additional, Zhang, Jin, additional, Gu, Weihong, additional, Scholz, Sonja W., additional, Singleton, Andrew B., additional, Houlden, Henry, additional, Yabe, Ichiro, additional, Sasaki, Hidenao, additional, Matsushima, Masaaki, additional, Takashima, Hiroshi, additional, Kikuchi, Akio, additional, Aoki, Masashi, additional, Hara, Kenju, additional, Kakita, Akiyoshi, additional, Yamada, Mitsunori, additional, Takahashi, Hitoshi, additional, Onodera, Osamu, additional, Nishizawa, Masatoyo, additional, Watanabe, Hirohisa, additional, Ito, Mizuki, additional, Sobue, Gen, additional, Ishikawa, Kinya, additional, Mizusawa, Hidehiro, additional, Kanai, Kazuaki, additional, Kuwabara, Satoshi, additional, Arai, Kimihito, additional, Koyano, Shigeru, additional, Kuroiwa, Yoshiyuki, additional, Hasegawa, Kazuko, additional, Yuasa, Tatsuhiko, additional, Yasui, Kenichi, additional, Nakashima, Kenji, additional, Ito, Hijiri, additional, Izumi, Yuishin, additional, Kaji, Ryuji, additional, Kato, Takeo, additional, Kusunoki, Susumu, additional, Osaki, Yasushi, additional, Horiuchi, Masahiro, additional, Yamamoto, Ken, additional, Shimada, Mihoko, additional, Miyagawa, Taku, additional, Kawai, Yosuke, additional, Nishida, Nao, additional, Tokunaga, Katsushi, additional, Dürr, Alexandra, additional, Brice, Alexis, additional, Filla, Alessandro, additional, Klockgether, Thomas, additional, Wüllner, Ullrich, additional, Tanner, Caroline M., additional, Kukull, Walter A., additional, Lee, Virginia M.-Y., additional, Masliah, Eliezer, additional, Low, Phillip A., additional, Sandroni, Paola, additional, Ozelius, Laurie, additional, Foroud, Tatiana, additional, and Tsuji, Shoji, additional
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- 2023
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28. Clinical and Pathological Characterization of VPS16 Dystonia (P11-11.005)
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Pullman, Mariel, primary, Raymond, Deborah, additional, Molofsky, Walter, additional, Lubarr, Naomi, additional, Leaver, Katherine, additional, Ortega, Roberto, additional, Rawal, Maya, additional, Bennett, Steffany, additional, Bushnik, Evan, additional, Khorsandi, Azita, additional, Panov, Fedor, additional, Vonsattel, Jean Paul, additional, Ozelius, Laurie, additional, Saunders-Pullman, Rachel, additional, and Bressman, Susan, additional
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- 2023
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29. Establishing a natural history of X-linked dystonia parkinsonism
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Acuna, Patrick, primary, Supnet-Wells, Melanie Leigh, additional, Spencer, Neil A, additional, de Guzman, Jan Kristoper, additional, Russo, Massimiliano, additional, Hunt, Ann, additional, Stephen, Christopher, additional, Go, Criscely, additional, Carr, Samuel, additional, Ganza, Niecy Grace, additional, Lagarde, John Benedict, additional, Begalan, Shin, additional, Multhaupt-Buell, Trisha, additional, Aldykiewicz, Gabrielle, additional, Paul, Lisa, additional, Ozelius, Laurie, additional, Bragg, D Cristopher, additional, Perry, Bridget, additional, Green, Jordan R, additional, Miller, Jeffrey W, additional, and Sharma, Nutan, additional
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- 2023
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30. Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism
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Ortega, Roberto A., primary, Bressman, Susan B., additional, Raymond, Deborah, additional, Ozelius, Laurie J., additional, Wang, Cuiling, additional, Bennett, Steffany A.L., additional, and Saunders‐Pullman, Rachel, additional
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- 2023
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31. Association of a Missense Change in the D2 Dopamine Receptor with Myoclonus Dystonia
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Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, de Leon, Deborah, Doheny, Dana, Bressman, Susan, Fahn, Stanley, Breakefield, Xandra O., and Ozelius, Laurie J.
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- 1999
32. Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3
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Sweadner, Kathleen J., Arystarkhova, Elena, Penniston, John T., Swoboda, Kathryn J., Brashear, Allison, and Ozelius, Laurie J.
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- 2019
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33. High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation
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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, and Pe’er, Itsik
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- 2018
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34. Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes
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Whitlow, Christopher T., primary, Atcheson, Kyle M., additional, Snively, Beverly M., additional, Cook, Jared F., additional, Kim, Jeongchul, additional, Haq, Ihtsham U., additional, Sweadner, Kathleen J., additional, Ozelius, Laurie J., additional, and Brashear, Allison, additional
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- 2023
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35. X-Linked Dystonia-Parkinsonism: recent advances
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Bragg, D. Cristopher, Sharma, Nutan, and Ozelius, Laurie J.
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- 2019
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36. Neuropsychological performance in LRRK2 G2019S carriers with Parkinson's disease
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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, Nir, Bressman, Susan, and Marder, Karen
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- 2015
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37. Differences in Sex‐Specific Frequency of Glucocerebrosidase Variant Carriers and Familial Parkinsonism
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Ortega, Roberto A., primary, Bressman, Susan B., additional, Raymond, Deborah, additional, Ozelius, Laurie J., additional, Katsnelson, Viktoriya, additional, Leaver, Katherine, additional, Swan, Matthew C., additional, Shanker, Vicki, additional, Miravite, Joan, additional, Wang, Cuiling, additional, Bennett, Steffany A.L., additional, and Saunders‐Pullman, Rachel, additional
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- 2022
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38. Distinct neurological disorders with ATP1A3 mutations
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Heinzen, Erin L, Arzimanoglou, Alexis, Brashear, Allison, Clapcote, Steven J, Gurrieri, Fiorella, Goldstein, David B, Jóhannesson, Sigurður H, Mikati, Mohamad A, Neville, Brian, Nicole, Sophie, Ozelius, Laurie J, Poulsen, Hanne, Schyns, Tsveta, Sweadner, Kathleen J, van den Maagdenberg, Arn, and Vilsen, Bente
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- 2014
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39. Progression in the LRRK2-Asssociated Parkinson Disease Population
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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, Laurie, Orr-Urtreger, Avi, Marder, Karen S., Giladi, Nir, and Bressman, Susan B.
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- 2018
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40. Association of Olfactory Performance With Motor Decline and Age at Onset in People With Parkinson Disease and the LRRK2 G2019S Variant
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Saunders-Pullman, Rachel, primary, Ortega, Roberto Angel, additional, Wang, Cuiling, additional, Raymond, Deborah, additional, Elango, Sonya, additional, Leaver, Katherine, additional, Urval, Nikita, additional, Katsnelson, Viktoriya, additional, Gerber, Rachel, additional, Swan, Matthew, additional, Shanker, Vicki, additional, Alcalay, Roy N., additional, Mirelman, Anat, additional, Brumm, Michael C., additional, Mejia-Santana, Helen, additional, Coffey, Christopher S., additional, Marek, Kenneth, additional, Ozelius, Laurie J., additional, Giladi, Nir, additional, Marder, Karen S., additional, and Bressman, Susan B., additional
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- 2022
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41. DYT‐TUBB4A ( DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review
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Bally, Julien F., primary, Kern, Drew S., additional, Fearon, Conor, additional, Camargos, Sarah, additional, Pereira da Silva‐Junior, Francisco, additional, Barbosa, Egberto Reis, additional, Ozelius, Laurie J., additional, de Carvalho Aguiar, Patricia, additional, and Lang, Anthony E., additional
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- 2022
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42. Additional file 2 of Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
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Campion, Lindsey N., Meijia 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., and Wheeler, Vanessa C.
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Additional file 2. Figures S1–S5.
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- 2022
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43. Additional file 1 of Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
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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., and Wheeler, Vanessa C.
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Additional file 1. Tables S1–S7.
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- 2022
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44. Interest in Genetic Testing in Ashkenazi Jewish Parkinson’s Disease Patients and Their Unaffected Relatives
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Gupte, Manisha, Alcalay, Roy N., Mejia-Santana, Helen, Raymond, Deborah, Saunders-Pullman, Rachel, Roos, Ernest, Orbe-Reily, Martha, Tang, Ming-X, Mirelman, Anat, Ozelius, Laurie, Orr-Urtreger, Avi, Clark, Lorraine, Giladi, Nir, Bressman, Susan, and Marder, Karen
- Published
- 2015
- Full Text
- View/download PDF
45. New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism
- Author
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Barbano, Richard L., Hill, Deborah F., Snively, Beverly M., Light, Laney S., Boggs, Niki, McCall, W. Vaughn, Stacy, Mark, Ozelius, Laurie, Sweadner, Kathleen J., and Brashear, Allison
- Published
- 2012
- Full Text
- View/download PDF
46. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat
- Author
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Campion, Lindsey N., primary, Yadav, Rachita, additional, Penney, Ellen B., additional, Murcar, Micaela G., additional, Correia, Kevin, additional, Gillis, Tammy, additional, Fernandez-Cerado, Cara, additional, Velasco-Andrada, M. Salvie, additional, Legarda, G. Paul, additional, Ganza-Bautista, Niecy G., additional, Lagarde, J. Benedict B., additional, Acuña, Patrick J, additional, Multhaupt-Buell, Trisha, additional, Aldykiewicz, Gabrielle, additional, Supnet, Melanie L., additional, DeGuzman, Jan K., additional, Go, Criscely, additional, Sharma, Nutan, additional, Munoz, Edwin L., additional, Ang, Mark C., additional, Diesta, Cid Czarina E., additional, Bragg, D. Cristopher, additional, Ozelius, Laurie J., additional, and Wheeler, Vanessa C., additional
- Published
- 2022
- Full Text
- View/download PDF
47. Cognitive and motor functioning in elderly glucocerebrosidase mutation carriers
- Author
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Moran, Eileen E., Wang, Cuiling, Katz, Mindy, Ozelius, Laurie, Schwartz, Alison, Pavlovic, Jelena, Ortega, Roberto A., Lipton, Richard B., Zimmerman, Molly E., and Saunders-Pullman, Rachel
- Published
- 2017
- Full Text
- View/download PDF
48. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
- Author
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Domingo, Aloysius, primary, Yadav, Rachita, additional, Shah, Shivangi, additional, Hendriks, William T., additional, Erdin, Serkan, additional, Gao, Dadi, additional, O’Keefe, Kathryn, additional, Currall, Benjamin, additional, Gusella, James F., additional, Sharma, Nutan, additional, Ozelius, Laurie J., additional, Ehrlich, Michelle E., additional, Talkowski, Michael E., additional, and Bragg, D. Cristopher, additional
- Published
- 2021
- Full Text
- View/download PDF
49. Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings
- Author
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Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laurie J., Brashear, Allison, and Ghetti, Bernardino
- Published
- 2014
- Full Text
- View/download PDF
50. GNAL mutation in isolated laryngeal dystonia
- Author
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Putzel, Gregory G., Fuchs, Tania, Battistella, Giovanni, Rubien-Thomas, Estee, Frucht, Steven J., Blitzer, Andrew, Ozelius, Laurie J., and Simonyan, Kristina
- Published
- 2016
- Full Text
- View/download PDF
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