Orthostatic Tremor and Orthostatic Myoclonus: Weight-bearing Hyperkinetic Disorders: A Systematic Review, New Insights, and Unresolved Questions

por Hassan, Anhar, van Gerpen, Jay A.
Publicado 2016

Different orthostatic hyperkinesias go “Thump”

por McKay, Jake H., van Gerpen, Jay A.
Publicado 2017

Expanded phenotype in a patient with spastic paraplegia 7

por Gass, Jennifer, Blackburn, Patrick R., Jackson, Jessica, Macklin, Sarah, van Gerpen, Jay, Atwal, Paldeep S.
Publicado 2017

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

por DeMeo, Natasha N., Burgess, Jeremy D., Blackburn, Patrick R., Gass, Jennifer M., Richter, John, Atwal, Herjot K., van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2017

When DLB, PD, and PSP masquerade as MSA: An autopsy study of 134 patients

por Koga, Shunsuke, Aoki, Naoya, Uitti, Ryan J., van Gerpen, Jay A., Cheshire, William P., Josephs, Keith A., Wszolek, Zbigniew K., Langston, J. William, Dickson, Dennis W.
Publicado 2015

Association of MAPT subhaplotypes with clinical and demographic features in Parkinson’s disease

por Deutschlander, Angela B., Konno, Takuya, Soto‐Beasley, Alexandra I., Walton, Ronald L., van Gerpen, Jay A., Uitti, Ryan J., Heckman, Michael G., Wszolek, Zbigniew K., Ross, Owen A.
Publicado 2020

Characterization of a Pathogenic Variant in the ABCD1 Gene Through Protein Molecular Modeling

por Richter Jr., John E., Vadlamudi, Charitha, Macklin, Sarah K., Samreen, Ayesha, Helmi, Haytham, Broderick, Daniel, Mohammad, Ahmed N., Hines, Stephanie L., VanGerpen, Jay A., Atwal, Paldeep S., Caulfield, Thomas R.
Publicado 2020

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

por Blackburn, Patrick R., Zimmermann, Michael T., Gass, Jennifer M., Harris, Kimberly G., Cousin, Margot A., Boczek, Nicole J., Ross, Owen A., Klee, Eric W., Brazis, Paul W., Van Gerpen, Jay A., Atwal, Paldeep S.
Publicado 2016

Acute Flaccid Paralysis and West Nile Virus Infection

por Sejvar, James J., Leis, A. Arturo, Stokic, Dobrivoje S., Van Gerpen, Jay A., Marfin, Anthony A., Webb, Risa, Haddad, Maryam B., Tierney, Bruce C., Slavinski, Sally A., Polk, Jo Lynn, Dostrow, Victor, Winkelmann, Michael, Petersen, Lyle R.
Publicado 2003

Abnormal daytime sleepiness in dementia with Lewy bodies compared to Alzheimer’s disease using the Multiple Sleep Latency Test

por Ferman, Tanis J, Smith, Glenn E, Dickson, Dennis W, Graff-Radford, Neill R, Lin, Siong-Chi, Wszolek, Zbigniew, Van Gerpen, Jay A, Uitti, Ryan, Knopman, David S, Petersen, Ronald C, Parisi, Joseph E, Silber, Michael H, Boeve, Bradley F
Publicado 2014

Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor

por Lorenzo-Betancor, Oswaldo, Ogaki, Kotaro, Soto-Ortolaza, Alexandra, Labbé, Catherine, Vilariño-Güell, Carles, Rajput, Alex, Rajput, Ali H., Pastor, Pau, Ortega, Sara, Lorenzo, Elena, Strongosky, Audrey J., van Gerpen, Jay A., Uitti, Ryan J., Wszolek, Zbigniew K., Ross, Owen A.
Publicado 2014

Whole‐exome sequencing for variant discovery in blepharospasm

por Tian, Jun, Vemula, Satya R., Xiao, Jianfeng, Valente, Enza Maria, Defazio, Giovanni, Petrucci, Simona, Gigante, Angelo Fabio, Rudzińska‐Bar, Monika, Wszolek, Zbigniew K., Kennelly, Kathleen D., Uitti, Ryan J., van Gerpen, Jay A., Hedera, Peter, Trimble, Elizabeth J., LeDoux, Mark S.
Publicado 2018

A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia

por Vemula, Satya R, Xiao, Jianfeng, Zhao, Yu, Bastian, Robert W, Perlmutter, Joel S, Racette, Brad A, Paniello, Randal C, Wszolek, Zbigniew K, Uitti, Ryan J, Van Gerpen, Jay A, Hedera, Peter, Truong, Daniel D, Blitzer, Andrew, Rudzińska, Monika, Momčilović, Dragana, Jinnah, Hyder A, Frei, Karen, Pfeiffer, Ronald F, LeDoux, Mark S
Publicado 2014

Association study between multiple system atrophy and TREM2 p.R47H

por Ogaki, Kotaro, Heckman, Michael G., Koga, Shunsuke, Martens, Yuka A., Labbé, Catherine, Lorenzo-Betancor, Oswaldo, Walton, Ronald L., Soto, Alexandra I., Vargas, Emily R., Fujioka, Shinsuke, Uitti, Ryan J., van Gerpen, Jay A., Cheshire, William P., Younkin, Steven G., Wszolek, Zbigniew K., Low, Phillip A., Singer, Wolfgang, Bu, Guojun, Dickson, Dennis W., Ross, Owen A.
Publicado 2018

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3

por Koike, Yuka, Jansen-West, Karen R., AL-Shaikh, Rana Hanna, Carlomagno, Yari, Song, Yuping, Dunmore, Judith A., LeDoux, Mark S., Friedman, Joseph H., Pena, Ashley B., Uitti, Ryan J., Zaremba, Jacek, van Gerpen, Jay A., Pfeiffer, Ronald F., Veerappan, Venka, Aiba, Ikuko, Hashimoto, Rina, Giles, Samuel S., Shah, Jaimin S., Tipton, Philip W., Huang, Josephine F., Wierenga, Klaas J., Aasly, Jan, Fryer, John D., Petrucelli, Leonard, Wszolek, Zbigniew K., Prudencio, Mercedes
Publicado 2021

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans

por Conway, Olivia J, Carrasquillo, Minerva M, Wang, Xue, Bredenberg, Jenny M, Reddy, Joseph S, Strickland, Samantha L, Younkin, Curtis S, Burgess, Jeremy D, Allen, Mariet, Lincoln, Sarah J, Nguyen, Thuy, Malphrus, Kimberly G, Soto, Alexandra I, Walton, Ronald L, Boeve, Bradley F, Petersen, Ronald C, Lucas, John A, Ferman, Tanis J, Cheshire, William P, van Gerpen, Jay A, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A, Dickson, Dennis W, Graff-Radford, Neill R, Ertekin-Taner, Nilüfer
Publicado 2018

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

por Walton, Ronald L., Soto-Ortolaza, Alexandra I., Murray, Melissa E., Lorenzo-Betancor, Oswaldo, Ogaki, Kotaro, Heckman, Michael G., Rayaprolu, Sruti, Rademakers, Rosa, Ertekin-Taner, Nilüfer, Uitti, Ryan J., van Gerpen, Jay A., Wszolek, Zbigniew K., Smith, Glenn E., Kantarci, Kejal, Lowe, Val J., Parisi, Joseph E., Jones, David T., Savica, Rodolfo, Graff-Radford, Jonathan, Knopman, David S., Petersen, Ronald C., Graff-Radford, Neill R., Ferman, Tanis J., Dickson, Dennis W., Boeve, Bradley F., Ross, Owen A., Labbé, Catherine
Publicado 2016

Mutations in the colony stimulating factor 1 receptor (CSF1R) cause hereditary diffuse leukoencephalopathy with spheroids

por Rademakers, Rosa, Baker, Matt, Nicholson, Alexandra M., Rutherford, Nicola J., Finch, NiCole, Soto-Ortolaza, Alexandra, Lash, Jennifer, Wider, Christian, Wojtas, Aleksandra, DeJesus-Hernandez, Mariely, Adamson, Jennifer, Kouri, Naomi, Sundal, Christina, Shuster, Elizabeth A., Aasly, Jan, MacKenzie, James, Roeber, Sigrun, Kretzschmar, Hans A., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Cairns, Nigel J., Ghetti, Bernardino, Spina, Salvatore, Garbern, James, Tselis, Alexandros C., Uitti, Ryan, Das, Pritam, Van Gerpen, Jay A., Meschia, James F., Levy, Shawn, Broderick, Daniel F., Graff-Radford, Neill, Ross, Owen A., Miller, Bradley B., Swerdlow, Russell H., Dickson, Dennis W., Wszolek, Zbigniew K.
Publicado 2011

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

por Wray, Selina, Self, Matthew, Lewis, Patrick A., Taanman, Jan-Willem, Ryan, Natalie S., Mahoney, Colin J., Liang, Yuying, Devine, Michael J., Sheerin, Una-Marie, Houlden, Henry, Morris, Huw R., Healy, Daniel, Marti-Masso, Jose-Felix, Preza, Elisavet, Barker, Suzanne, Sutherland, Margaret, Corriveau, Roderick A., D'Andrea, Michael, Schapira, Anthony H. V., Uitti, Ryan J., Guttman, Mark, Opala, Grzegorz, Jasinska-Myga, Barbara, Puschmann, Andreas, Nilsson, Christer, Espay, Alberto J., Slawek, Jaroslaw, Gutmann, Ludwig, Boeve, Bradley F., Boylan, Kevin, Stoessl, A. Jon, Ross, Owen A., Maragakis, Nicholas J., Van Gerpen, Jay, Gerstenhaber, Melissa, Gwinn, Katrina, Dawson, Ted M., Isacson, Ole, Marder, Karen S., Clark, Lorraine N., Przedborski, Serge E., Finkbeiner, Steven, Rothstein, Jeffrey D., Wszolek, Zbigniew K., Rossor, Martin N., Hardy, John
Publicado 2012

Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy

por Hopfner, Franziska, Tietz, Anja K., Ruf, Viktoria C., Ross, Owen A., Koga, Shunsuke, Dickson, Dennis, Aguzzi, Adriano, Attems, Johannes, Beach, Thomas, Beller, Allison, Cheshire, William P., van Deerlin, Vivianna, Desplats, Paula, Deuschl, Günther, Duyckaerts, Charles, Ellinghaus, David, Evsyukov, Valentin, Flanagan, Margaret Ellen, Franke, Andre, Frosch, Matthew P., Gearing, Marla, Gelpi, Ellen, van Gerpen, Jay A., Ghetti, Bernardino, Glass, Jonathan D., Grinberg, Lea T., Halliday, Glenda, Helbig, Ingo, Höllerhage, Matthias, Huitinga, Inge, Irwin, David John, Keene, Dirk C., Kovacs, Gabor G., Lee, Edward B., Levin, Johannes, Martí, Maria J., Mackenzie, Ian, McKeith, Ian, Mclean, Catriona, Mollenhauer, Brit, Neumann, Manuela, Newell, Kathy L., Pantelyat, Alex, Pendziwiat, Manuela, Peters, Annette, Porcel, Laura Molina, Rabano, Alberto, Matěj, Radoslav, Rajput, Alex, Rajput, Ali, Reimann, Regina, Scott, William K., Seeley, William, Selvackadunco, Sashika, Simuni, Tanya, Stadelmann, Christine, Svenningsson, Per, Thomas, Alan, Trenkwalder, Claudia, Troakes, Claire, Trojanowski, John Q., Uitti, Ryan J., White, Charles L., Wszolek, Zbigniew K., Xie, Tao, Ximelis, Teresa, Justo, Yebenes, Müller, Ulrich, Schellenberg, Gerard D., Herms, Jochen, Kuhlenbäumer, Gregor, Höglinger, Günter
Publicado 2022