Search Results - "LeDoux, Mark"

No Neuron Operates in Isolation by LeDoux, Mark S.

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Polymerase I as a Target for Treating Neurodegenerative Disorders by LeDoux, Mark S

“…Polymerase I (Pol I) is at the epicenter of ribosomal RNA (rRNA) synthesis. Pol I is a target for the treatment of cancer. Given the many cellular…”
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Zinc gluconate for Wilson disease by LeDoux, Mark S.

“…Due to financial constraints, a patient with Wilson disease required transitioning his maintenance pharmacotherapy from zinc acetate to zinc gluconate. Herein,…”
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Animal models of dystonia: Lessons from a mutant rat by LeDoux, Mark S

“…Abstract Dystonia is a motor sign characterized by involuntary muscle contractions which produce abnormal postures. Genetic factors contribute significantly to…”
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HMG-boxes, ribosomopathies and neurodegenerative disease by Moss, Tom, LeDoux, Mark S, Crane-Robinson, Colyn

“…The UBTF E210K neuroregression syndrome is a predominantly neurological disorder caused by recurrent dominant variants in Upstream Binding Factor, that is,…”
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Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort by Shaikh, Aasef G., Beylergil, Sinem Balta, Scorr, Laura, Kilic-Berkmen, Gamze, Freeman, Alan, Klein, Christine, Junker, Johanna, Loens, Sebastian, Brüggemann, Norbert, Münchau, Alexander, Bäumer, Tobias, Vidailhet, Marie, Roze, Emmanuel, Bonnet, Cecilia, Jankovic, Joseph, Jimenez-Shahed, Joohi, Patel, Neepa, Marsh, Laura, Comella, Cynthia, Barbano, Richard L., Berman, Brian D., Malaty, Irene, Wagle Shukla, Aparna, Reich, Stephen G., Ledoux, Mark S., Berardelli, Alfredo, Ferrazzano, Gina, Stover, Natividad, Ondo, William, Pirio Richardson, Sarah, Saunders-Pullman, Rachel, Mari, Zoltan, Agarwal, Pinky, Adler, Charles, Chouinard, Sylvain, Fox, Susan H., Brashear, Allison, Truong, Daniel, Suchowersky, Oksana, Frank, Samuel, Factor, Stewart, Perlmutter, Joel, Jinnah, Hyder Azad

“…OBJECTIVE:To assess the clinical manifestations and predictors of different types of tremors in a individuals with different types of isolated dystonia…”
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Behavioral and molecular effects of Ubtf knockout and knockdown in mice by Hori, Roderick T., Moshahid Khan, Mohammad, Xiao, Jianfeng, Hargrove, Phillip W., Moss, Tom, LeDoux, Mark S.

“…[Display omitted] •UBTF is essential for embryogenesis and survival in adults.•Ubtf+/− mice show significant deficits in spatial learning and memory.•The…”
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Randomized controlled trial of deutetrabenazine for tardive dyskinesia: The ARM-TD study by Fernandez, Hubert H, Factor, Stewart A, Hauser, Robert A, Jimenez-Shahed, Joohi, Ondo, William G, Jarskog, L Fredrik, Meltzer, Herbert Y, Woods, Scott W, Bega, Danny, LeDoux, Mark S, Shprecher, David R, Davis, Charles, Davis, Mat D, Stamler, David, Anderson, Karen E

“…OBJECTIVE:To determine the efficacy and safety of deutetrabenazine as a treatment for tardive dyskinesia (TD). METHODS:One hundred seventeen patients with…”
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DNA damage and neurodegenerative phenotypes in aged Ciz1 null mice by Khan, Mohammad Moshahid, Xiao, Jianfeng, Patel, Damini, LeDoux, Mark S.

“…Cell-cycle dysfunction and faulty DNA repair are closely intertwined pathobiological processes that may contribute to several neurodegenerative disorders…”
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Effect of Urate-Elevating Inosine on Early Parkinson Disease Progression: The SURE-PD3 Randomized Clinical Trial by Schwarzschild, Michael A, Ascherio, Alberto, Casaceli, Cindy, Curhan, Gary C, Fitzgerald, Rebecca, Kamp, Cornelia, Lungu, Codrin, Macklin, Eric A, Marek, Kenneth, Oakes, David, Rudolph, Alice, Shoulson, Ira, Videnovic, Aleksandar, Scott, Burton, Gauger, Lisa, Aldred, Jason, Bixby, Melissa, Ciccarello, Jill, Gunzler, Steven A, Henchcliffe, Claire, Brodsky, Matthew, Keith, Kellie, Hauser, Robert A, Goetz, Christopher, LeDoux, Mark S, Hinson, Vanessa, Kumar, Rajeev, Espay, Alberto J, Jimenez-Shahed, Joohi, Hunter, Christine, Christine, Chadwick, Daley, Aaron, Leehey, Maureen, de Marcaida, J. Antonelle, Friedman, Joseph Harold, Hung, Albert, Bwala, Grace, Litvan, Irene, Simon, David K, Simuni, Tanya, Poon, Cynthia, Schiess, Mya C, Chou, Kelvin, Park, Ariane, Bhatti, Danish, Peterson, Carolyn, Criswell, Susan R, Rosenthal, Liana, Durphy, Jennifer, Shill, Holly A, Mehta, Shyamal H, Ahmed, Anwar, Deik, Andres F, Fang, John Y, Stover, Natividad, Zhang, Lin, Dewey, Richard B, Boyd, James T, Houston, Emily, Suski, Valerie, Mosovsky, Sherri, Cloud, Leslie, Shah, Binit B, Saint-Hilaire, Marie, James, Raymond, Zauber, Sarah Elizabeth, Reich, Stephen, Shprecher, David, Pahwa, Rajesh, Langhammer, April, LaFaver, Kathrin, LeWitt, Peter A, Kaminski, Patricia, Goudreau, John, Russell, Doozie, Houghton, David J, Laroche, Ashley, Thomas, Karen, McGraw, Martha, Mari, Zoltan, Serrano, Carmen, Blindauer, Karen, Rabin, Marcie, Kurlan, Roger, Morgan, John C, Ainslie, Melissa, Bodis-Wollner, Ivan, Schneider, Ruth B, Waters, Cheryl, Ratel, Amber Servi, Beck, Christopher A, Bolger, Patrick, Callahan, Katherine F, Crotty, Grace F, Klements, David, McMahon, Gearoid Michael, Pothier, Lindsay, Waikar, Sushrut S, Lang, Anthony, Mestre, Tiago

“…IMPORTANCE: Urate elevation, despite associations with crystallopathic, cardiovascular, and metabolic disorders, has been pursued as a potential…”
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Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia by Shakkottai, Vikram G., Batla, Amit, Bhatia, Kailash, Dauer, William T, Dresel, Christian, Niethammer, Martin, Eidelberg, David, Raike, Robert S., Smith, Yoland, Jinnah, H. A., Hess, Ellen J., Meunier, Sabine, Hallett, Mark, Fremont, Rachel, Khodakhah, Kamran, LeDoux, Mark S., Popa, Traian, Gallea, Cécile, Lehericy, Stéphane, Bostan, Andreea C., Strick, Peter L.

“…A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations…”
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Long-term safety and efficacy of deutetrabenazine for the treatment of tardive dyskinesia by Fernandez, Hubert H, Stamler, David, Davis, Mat D, Factor, Stewart A, Hauser, Robert A, Jimenez-Shahed, Joohi, Ondo, William G, Jarskog, L Fredrik, Woods, Scott W, Bega, Danny, LeDoux, Mark S, Shprecher, David R, Anderson, Karen E

“…ObjectiveTo evaluate the long-term safety and efficacy of deutetrabenazine in patients with tardive dyskinesia (TD).MethodPatients with TD who completed the 12…”
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Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na+/K+ pump ATPα by Hope, Kevin A., LeDoux, Mark S., Reiter, Lawrence T.

“…Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin…”
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Population Prevalence of Deleterious SGCE Variants by LeDoux, Mark S

“…Myoclonus-Dystonia (M-D) is a pleiotropic neuropsychiatric disorder of variable penetrance. Pathogenic variants in , a maternally imprinted gene, are the most…”
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REEP4 variant analysis in blepharospasm and other neurological disorders by Saeirad, Samira, LeDoux, Mark S

“…In preceding work, a deleterious variant [GRCh38/hg38, NC_000008.11:g.22140245G>A, NM_025232.4:c.109C>T, p.Arg37Trp] was found to co-segregate with…”
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Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia by Calame, Dylan J., Xiao, Jianfeng, Khan, Mohammad Moshahid, Hollingsworth, T.J., Xue, Yi, Person, Abigail L., LeDoux, Mark S.

“…•Prrrt2−/− mice exhibit paroxysmal dystonia with face validity.•Prrt2 transcripts reside in granule cells but not Purkinje cells or interneurons within…”
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Ribosomal DNA promoter recognition is determined in vivo by cooperation between UBTF1 and SL1 and is compromised in the UBTF-E210K neuroregression syndrome by Tremblay, Michel G, Sibai, Dany S, Valère, Melissa, Mars, Jean-Clément, Lessard, Frédéric, Hori, Roderick T, Khan, Mohammad Moshahid, Stefanovsky, Victor Y, LeDoux, Mark S, Moss, Tom

“…Transcription of the ~200 mouse and human ribosomal RNA genes (rDNA) by RNA Polymerase I (RPI/PolR1) accounts for 80% of total cellular RNA, around 35% of all…”
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Meige syndrome: What's in a name? by LeDoux, Mark S

“…Abstract Frequently, blepharospasm is associated with involuntary movements of the platysma, lower face and masticatory muscles. Similarly, masticatory…”
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Mutations in CIZ1 cause adult onset primary cervical dystonia by Xiao, Jianfeng, Uitti, Ryan J., Zhao, Yu, Vemula, Satya R., Perlmutter, Joel S., Wszolek, Zbigniew K., Maraganore, Demetrius M., Auburger Dr Med, Georg, Leube Dr Med, Barbara, Lehnhoff, Katja, LeDoux, Mark S.

“…Objective: Primary dystonia is usually of adult onset, can be familial, and frequently involves the cervical musculature. Our goal was to identify the causal…”
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TOR2A Variants in Blepharospasm by Saeirad, Samira, LeDoux, Mark S

“…Genetic factors have been implicated in the pathogenesis of blepharospasm (BSP), a dystonia characterized by excessive blinking and involuntary eyelid closure…”
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