Search Results - "MARAGANORE, Demetrius M"

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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High-Resolution Whole-Genome Association Study of Parkinson Disease by Maraganore, Demetrius M., de Andrade, Mariza, Lesnick, Timothy G., Strain, Kari J., Farrer, Matthew J., Rocca, Walter A., Pant, P.V. Krishna, Frazer, Kelly A., Cox, David R., Ballinger, Dennis G.

“…We performed a two-tiered, whole-genome association study of Parkinson disease (PD). For tier 1, we individually genotyped 198,345 uniformly spaced and…”
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Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics by Lin, Ling, Lesnick, Timothy G, Maraganore, Demetrius M, Isacson, Ole

“…Axon-guidance-pathway molecules are involved in connectivity and repair throughout life (beyond guiding brain wiring during fetal development). One study found…”
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A genomic pathway approach to a complex disease: axon guidance and Parkinson disease by Lesnick, Timothy G, Papapetropoulos, Spiridon, Mash, Deborah C, Ffrench-Mullen, Jarlath, Shehadeh, Lina, de Andrade, Mariza, Henley, John R, Rocca, Walter A, Ahlskog, J Eric, Maraganore, Demetrius M

“…While major inroads have been made in identifying the genetic causes of rare Mendelian disorders, little progress has been made in the discovery of common gene…”
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Anxious personality predicts an increased risk of Parkinson's disease by Bower, James H., Grossardt, Brandon R., Maraganore, Demetrius M., Ahlskog, J. Eric, Colligan, Robert C., Geda, Yonas E., Therneau, Terry M., Rocca, Walter A.

“…We studied the association of three personality traits related to neuroticism with the subsequent risk of Parkinson's disease (PD) using a historical cohort…”
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LOW DOSE VERAPAMIL AS AN ADJUNCT THERAPY FOR MEDICALLY REFRACTORY EPILEPSY − AN OPEN LABEL PILOT STUDY by Narayanan, Jaishree, MD, Frech, Robert, BS, Walters, Shaun, MS, Patel, Vimal, PhD, Frigerio, Roberta, MD, Maraganore, Demetrius M., MD

“…Highlights • We tested efficacy of add on verapamil on treatment of drug resistant epilepsy. • Low dose of verapamil (20 mg, p.o. tid) reduced seizure…”
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Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations by Kachergus, Jennifer, Mata, Ignacio F., Hulihan, Mary, Taylor, Julie P., Lincoln, Sarah, Aasly, Jan, Gibson, J. Mark, Ross, Owen A., Lynch, Timothy, Wiley, Joseph, Payami, Haydeh, Nutt, John, Maraganore, Demetrius M., Czyzewski, Krzysztof, Styczynska, Maria, Wszolek, Zbigniew K., Farrer, Matthew J., Toft, Mathias

“…Autosomal dominant parkinsonism has been attributed to pathogenic amino acid substitutions in leucine-rich repeat kinase 2 (LRRK2). By sequencing multiplex…”
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A blood biomarker test for brain amyloid impacts the clinical evaluation of cognitive impairment by Monane, Mark, Johnson, Kim G, Snider, B Joy, Turner, Raymond S, Drake, Jonathan D, Maraganore, Demetrius M, Bicksel, James L, Jacobs, Daniel H, Ortega, Julia L, Henderson, Joni, Jiang, Yan, Huang, Shuguang, Coppinger, Justine, Fogelman, Ilana, West, Tim, Braunstein, Joel B

“…The objective of this study was to examine clinicians' patient selection and result interpretation of a clinically validated mass spectrometry test measuring…”
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Evaluation of a Computable Phenotype for Successful Cognitive Aging by Smith, Glenn, Miller, Amber, Marra, David E., Wu, Yonghui, Bian, Jiang, Maraganore, Demetrius M., Anton, Stephen

“…To establish, apply, and evaluate a computable phenotype for the recruitment of individuals with successful cognitive aging. Interviews with 10 aging experts…”
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Meta-analysis in genome-wide association datasets: strategies and application in Parkinson disease by Evangelou, Evangelos, Maraganore, Demetrius M, Ioannidis, John P A

“…Genome-wide association studies hold substantial promise for identifying common genetic variants that regulate susceptibility to complex diseases. However, for…”
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Fracture risk after the diagnosis of Parkinson's disease: Influence of concomitant dementia by Melton III, L. Joseph, Leibson, Cynthia L., Achenbach, Sara J., Bower, James H., Maraganore, Demetrius M., Oberg, Ann L., Rocca, Walter A.

“…In an inception cohort of 196 Olmsted County, Minnesota, residents with Parkinson's disease (PD) first recognized in 1976 to 1995, we tested whether the…”
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UCHL1 is a Parkinson's disease susceptibility gene by Maraganore, Demetrius M., Lesnick, Timothy G., Elbaz, Alexis, Chartier-Harlin, Marie-Christine, Gasser, Thomas, Krüger, Rejko, Hattori, Nobutaka, Mellick, George D., Quattrone, Aldo, Satoh, Jun-Ichi, Toda, Taksushi, Wang, Jian, Ioannidis, John P.A., de Andrade, Mariza, Rocca, Walter A.

“…An Erratum has been published for this article in Ann Neurol 2004;55:899. The reported inverse association between the S18Y variant of the ubiquitin…”
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In vivo silencing of alpha-synuclein using naked siRNA by Lewis, Jada, Melrose, Heather, Bumcrot, David, Hope, Andrew, Zehr, Cynthia, Lincoln, Sarah, Braithwaite, Adam, He, Zhen, Ogholikhan, Sina, Hinkle, Kelly, Kent, Caroline, Toudjarska, Ivanka, Charisse, Klaus, Braich, Ravi, Pandey, Rajendra K, Heckman, Michael, Maraganore, Demetrius M, Crook, Julia, Farrer, Matthew J

“…Overexpression of alpha-synuclein (SNCA) in families with multiplication mutations causes parkinsonism and subsequent dementia, characterized by diffuse Lewy…”
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Lack of replication of the GRIN2A-by-coffee interaction in Parkinson disease by Ahmed, Ismaïl, Lee, Pei-Chen, Lill, Christina M, Searles Nielsen, Susan, Artaud, Fanny, Gallagher, Lisa G, Loriot, Marie-Anne, Mulot, Claire, Nacfer, Magali, Liu, Tian, Biernacka, Joanna M, Armasu, Sebastian, Anderson, Kari, Farin, Federico M, Lassen, Christina Funch, Hansen, Johnni, Olsen, Jørgen H, Bertram, Lars, Maraganore, Demetrius M, Checkoway, Harvey, Ritz, Beate, Elbaz, Alexis

“…Overview The etiology of Parkinson disease (PD) involves both genetic susceptibility and environmental exposures. In particular, coffee consumption is…”
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Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement by Puschmann, Andreas, Brighina, Laura, Markopoulou, Katerina, Aasly, Jan, Chung, Sun Ju, Frigerio, Roberta, Hadjigeorgiou, Georgios, Kõks, Sulev, Krüger, Rejko, Siuda, Joanna, Wider, Christian, Zesiewicz, Theresa A, Maraganore, Demetrius M

“…Abstract Parkinson disease (PD) is associated with a clinical course of variable duration, severity, and a combination of motor and non-motor features. Recent…”
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Building of EMR Tools to Support Quality and Research in a Memory Disorders Clinic by Simon, Kelly Claire, Yucus, Chad, Castle, James, Chesis, Richard, Lai, Rebekah, Hillman, Laura, Tideman, Samuel, Garduno, Lisette, Meyers, Steven, Frigerio, Roberta, Maraganore, Demetrius M

“…The electronic medical record (EMR) presents an opportunity to standardize patient data collection based on quality guidelines and conduct practice-based…”
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A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease by Krüger, Rejko, Sharma, Manu, Riess, Olaf, Gasser, Thomas, Van Broeckhoven, Christine, Theuns, Jessie, Aasly, Jan, Annesi, Grazia, Bentivoglio, Anna Rita, Brice, Alexis, Djarmati, Ana, Elbaz, Alexis, Farrer, Matthew, Ferrarese, Carlo, Gibson, J. Mark, Hadjigeorgiou, Georgios M, Hattori, Nobutaka, Ioannidis, John P.A, Jasinska-Myga, Barbara, Klein, Christine, Lambert, Jean-Charles, Lesage, Suzanne, Lin, Juei-Jueng, Lynch, Timothy, Mellick, George D, de Nigris, Francesa, Opala, Grzegorz, Prigione, Alessandro, Quattrone, Aldo, Ross, Owen A, Satake, Wataru, Silburn, Peter A, Tan, Eng King, Toda, Tatsushi, Tomiyama, Hiroyuki, Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Maraganore, Demetrius M

“…Abstract High-profile studies have provided conflicting results regarding the involvement of the Omi/HtrA2 gene in Parkinson's disease (PD) susceptibility…”
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Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study by Wang, Lisa, Heckman, Michael G., Aasly, Jan O., Annesi, Grazia, Bozi, Maria, Chung, Sun Ju, Clarke, Carl, Crosiers, David, Eckstein, Gertrud, Garraux, Gaetan, Hadjigeorgiou, Georgios M., Hattori, Nobu, Jeon, Beom, Kim, Yun J., Kubo, Masato, Lesage, Suzanne, Lin, Juei Jueng, Lynch, Timothy, Lichtner, Peter, Mellick, George D., Mok, Vincent, Morrison, Karin E., Quattrone, Aldo, Satake, Wataru, Silburn, Peter A., Stefanis, Leonidas, Stockton, Joanne D., Tan, Eng King, Toda, Tatsushi, Brice, Alexis, Van Broeckhoven, Christine, Uitti, Ryan J., Wirdefeldt, Karin, Wszolek, Zbigniew, Xiromerisiou, Georgia, Maraganore, Demetrius M., Gasser, Thomas, Krüger, Rejko, Farrer, Matthew J., Ross, Owen A., Sharma, Manu

“…A recent study MacLeod et al. has shown that an interaction between variants at the LRRK2 and PARK16 loci influences risk of development of Parkinson's disease…”
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Standardizing Care of Neuro-oncology Patients Using a Customized Electronic Medical Record Toolkit by Merrell, Ryan T., Simon, Kelly Claire, Martinez, Nina, Vazquez, Rosa Maria, Hadsell, Bryce, Epshteyn, Alexander, Wilk, Gary, Frigerio, Roberta, Maraganore, Demetrius M.

“…To develop and implement a customized toolkit within the electronic medical record (EMR) to standardize care of patients with brain tumors. We built a…”
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Beyond Parkinson disease: amyotrophic lateral sclerosis and the axon guidance pathway by Lesnick, Timothy G, Sorenson, Eric J, Ahlskog, J Eric, Henley, John R, Shehadeh, Lina, Papapetropoulos, Spiridon, Maraganore, Demetrius M

“…We recently described a genomic pathway approach to study complex diseases. We demonstrated that models constructed using single nucleotide polymorphisms…”
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