Search Results - "Bressman, Susan B"

Phenomenology and classification of dystonia: A consensus update by Albanese, Alberto, Bhatia, Kailash, Bressman, Susan B., DeLong, Mahlon R., Fahn, Stanley, Fung, Victor S.C., Hallett, Mark, Jankovic, Joseph, Jinnah, Hyder A., Klein, Christine, Lang, Anthony E., Mink, Jonathan W., Teller, Jan K.

“…ABSTRACT This report describes the consensus outcome of an international panel consisting of investigators with years of experience in this field that reviewed…”
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Digitized Spiral Drawing: A Possible Biomarker for Early Parkinson's Disease by San Luciano, Marta, Wang, Cuiling, Ortega, Roberto A, Yu, Qiping, Boschung, Sarah, Soto-Valencia, Jeannie, Bressman, Susan B, Lipton, Richard B, Pullman, Seth, Saunders-Pullman, Rachel

“…Pre-clinical markers of Parkinson's Disease (PD) are needed, and to be relevant in pre-clinical disease, they should be quantifiably abnormal in early disease…”
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Arm swing as a potential new prodromal marker of Parkinson's disease by Mirelman, Anat, Bernad-Elazari, Hagar, Thaler, Avner, Giladi-Yacobi, Eytan, Gurevich, Tanya, Gana-Weisz, Mali, Saunders-Pullman, Rachel, Raymond, Deborah, Doan, Nancy, Bressman, Susan B., Marder, Karen S., Alcalay, Roy N., Rao, Ashwini K., Berg, Daniela, Brockmann, Kathrin, Aasly, Jan, Waro, Bjørg Johanne, Tolosa, Eduardo, Vilas, Dolores, Pont-Sunyer, Claustre, Orr-Urtreger, Avi, Hausdorff, Jeffrey M., Giladi, Nir

“…ABSTRACT Background Reduced arm swing is a well‐known clinical feature of Parkinson's disease (PD), often observed early in the course of the disease. We…”
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Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia by Argyelan, Miklos, Carbon, Maren, Niethammer, Martin, Ulug, Aziz M, Voss, Henning U, Bressman, Susan B, Dhawan, Vijay, Eidelberg, David

“…Dystonia is a brain disorder characterized by sustained involuntary muscle contractions. It is typically inherited as an autosomal dominant trait with…”
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Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia by Ozelius, Laurie J, Fuchs, Tania, Gavarini, Sophie, Saunders-Pullman, Rachel, Raymond, Deborah, Ehrlich, Michelle E, Bressman, Susan B

“…We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6…”
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Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition by Arystarkhova, Elena, Haq, Ihtsham U., Luebbert, Timothy, Mochel, Fanny, Saunders-Pullman, Rachel, Bressman, Susan B., Feschenko, Polina, Salazar, Cynthia, Cook, Jared F., Demarest, Scott, Brashear, Allison, Ozelius, Laurie J., Sweadner, Kathleen J.

“…Dominant mutations of ATP1A3, a neuronal Na,K-ATPase α subunit isoform, cause neurological disorders with an exceptionally wide range of severity. Several new…”
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Genetic and clinical features of primary torsion dystonia by Ozelius, Laurie J, Bressman, Susan B

“…Abstract Primary torsion dystonia (PTD) is defined as a syndrome in which dystonia is the only clinical sign (except for tremor), and there is no evidence of…”
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Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study by Bressman, Susan B, MD, Raymond, Deborah, MS, Fuchs, Tania, PhD, Heiman, Gary A, PhD, Ozelius, Laurie J, PhD, Saunders-Pullman, Rachel, MD

“…Summary Background Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish–Mennonite…”
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Multiple sclerosis in LRRK2 G2019S Parkinson's disease and isolated nigral degeneration in a homozygous variant carrier by Wise, Adina, Ortega, Roberto A, Raymond, Deborah, Cervera, Alessandra, Thorn, Emma, Leaver, Katherine, Russell, David S, Bressman, Susan B, Crary, John F, Saunders-Pullman, Rachel

“…variants have been associated with immune dysregulation as well as immune-related disorders such as IBD. A possible relationship between multiple sclerosis…”
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Milestones in dystonia by Ozelius, Laurie J., Lubarr, Naomi, Bressman, Susan B.

“…The last 25 years have seen remarkable advances in our understanding of the genetic etiologies of dystonia, new approaches into dissecting underlying…”
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Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia by Risch, Neil J., Bressman, Susan B., Senthil, Geetha, Ozelius, Laurie J.

“…A GAG deletion in the DYT1 gene is a major cause of early-onset dystonia, but clinical disease expression occurs in only 30% of mutation carriers. To gain…”
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Increased sensorimotor network activity in DYT1 dystonia: a functional imaging study by Carbon, Maren, Argyelan, Miklos, Habeck, Christian, Ghilardi, M. Felice, Fitzpatrick, Toni, Dhawan, Vijay, Pourfar, Michael, Bressman, Susan B., Eidelberg, David

“…Neurophysiological studies have provided evidence of primary motor cortex hyperexcitability in primary dystonia, but several functional imaging studies suggest…”
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The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia by Sako, Wataru, Fujita, Koji, Vo, An, Rucker, Janet C, Rizzo, John-Ross, Niethammer, Martin, Carbon, Maren, Bressman, Susan B, Uluğ, Aziz M, Eidelberg, David

“…Although primary dystonia is defined by its characteristic motor manifestations, non-motor signs and symptoms have increasingly been recognized in this…”
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Cognitive Functioning of Glucocerebrosidase ( GBA ) Non-manifesting Carriers by Moran, Eileen E, Bressman, Susan B, Ortega, Roberto A, Raymond, Deborah, Nichols, William C, Palmese, Christina A, Elango, Sonya, Swan, Matthew, Shanker, Vicki, Perera, Imali, Wang, Cuiling, Zimmerman, Molly E, Saunders-Pullman, Rachel

“…Mutations and variants in the glucocerebrosidase ( ) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD). Yet,…”
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Pallidal Deep Brain Stimulation for Primary Dystonia in Children by Haridas, Abilash, Tagliati, Michele, Osborn, Irene, Isaias, Ioannis, Gologorsky, Yakov, Bressman, Susan B, Weisz, Donald, Alterman, Ron L

“…Abstract BACKGROUND: Deep brain stimulation (DBS) at the internal globus pallidus (GPi) has replaced ablative procedures for the treatment of primary…”
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Research priorities in spasmodic dysphonia by Ludlow, Christy L., Adler, Charles H., Berke, Gerald S., Bielamowicz, Steven A., Blitzer, Andrew, Bressman, Susan B., Hallett, Mark, Jinnah, H.A., Juergens, Uwe, Martin, Sandra B., Perlmutter, Joel S., Sapienza, Christine, Singleton, Andrew, Tanner, Caroline M., Woodson, Gayle E.

“…To identify research priorities to increase understanding of the pathogenesis, diagnosis, and improved treatment of spasmodic dysphonia. A multidisciplinary…”
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DYT1 dystonia increases risk taking in humans by Arkadir, David, Radulescu, Angela, Raymond, Deborah, Lubarr, Naomi, Bressman, Susan B, Mazzoni, Pietro, Niv, Yael

“…It has been difficult to link synaptic modification to overt behavioral changes. Rodent models of DYT1 dystonia, a motor disorder caused by a single gene…”
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Genetic risk variants in New Yorkers of Puerto Rican and Dominican Republic heritage with Parkinson’s disease by 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

“…There is a paucity of genetic characterization in people with Parkinson’s disease (PD) of Latino and Afro-Caribbean descent. Screening LRRK2 and GBA variants…”
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Distribution, type, and origin of Parkin mutations: Review and case studies by Hedrich, Katja, Eskelson, Cordula, Wilmot, Beth, Marder, Karen, Harris, Juliette, Garrels, Jennifer, Meija-Santana, Helen, Vieregge, Peter, Jacobs, Helfried, Bressman, Susan B., Lang, Anthony E., Kann, Martin, Abbruzzese, Giovanni, Martinelli, Paolo, Schwinger, Eberhard, Ozelius, Laurie J., Pramstaller, Peter P., Klein, Christine, Kramer, Patricia

“…Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin…”
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The early-onset torsion dystonia gene ( DYT1 ) encodes an ATP-binding protein by Ozelius, Laurie J, Hewett, Jeffrey W, Page, Curtis E, Bressman, Susan B, Kramer, Patricia L, Shalish, Christo, de Leon, Deborah, Brin, Mitchell F, Raymond, Deborah, Corey, David P, Fahn, Stanley, Risch, Neil J, Buckler, Alan J, Gusella, James F, Breakefield, Xandra O

“…Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result…”
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