Zobrazeno 1 - 10
of 99
pro vyhledávání: '"Jay A. van Gerpen"'
Autor:
Jake H. McKay, Jay A. van Gerpen
Publikováno v:
Clinical Neurophysiology Practice, Vol 2, Iss , Pp 144-146 (2017)
Externí odkaz:
https://doaj.org/article/f4b828a4b83d45d0b39e39cce93e8f30
Autor:
Anhar Hassan, Jay A. van Gerpen
Publikováno v:
Tremor and Other Hyperkinetic Movements, Vol 6 (2016)
Background: Orthostatic tremor (OT) and orthostatic myoclonus (OM) are weight-bearing hyperkinetic movement disorders most commonly affecting older people that induce “shaky legs” upon standing. OT is divided into “classical” and “slow” f
Externí odkaz:
https://doaj.org/article/11cb9d10175240abb0b043184892deb8
Autor:
James J. Sejvar, A. Arturo Leis, Dobrivoje S. Stokic, Jay A. Van Gerpen, Anthony A. Marfin, Risa Webb, Maryam B. Haddad, Bruce C. Tierney, Sally A. Slavinski, Jo Lynn Polk, Victor Dostrow, Michael Winkelmann, Lyle R. Petersen
Publikováno v:
Emerging Infectious Diseases, Vol 9, Iss 7, Pp 788-793 (2003)
Acute weakness associated with West Nile virus (WNV) infection has previously been attributed to a peripheral demyelinating process (Guillain-Barré syndrome); however, the exact etiology of this acute flaccid paralysis has not been systematically as
Externí odkaz:
https://doaj.org/article/ecfa379409d94a439f2fa3bf0c9d3bd5
Autor:
James J. Sejvar, Arturo Leis, Jay A. Van Gerpen, Anthony A. Marfin, Lyle R. Petersen, Robert P. Holman, Nicole M. Monserrate, Eric W. Czander, Elisabeth J. Rushing
Publikováno v:
Emerging Infectious Diseases, Vol 10, Iss 3, Pp 547-548 (2004)
Externí odkaz:
https://doaj.org/article/0e8fedb36f6a41c2be57789eff45e0a4
Autor:
Olivia J Conway, Minerva M Carrasquillo, Xue Wang, Jenny M Bredenberg, Joseph S Reddy, Samantha L Strickland, Curtis S Younkin, Jeremy D Burgess, Mariet Allen, Sarah J Lincoln, Thuy Nguyen, Kimberly G Malphrus, Alexandra I Soto, Ronald L Walton, Bradley F Boeve, Ronald C Petersen, John A Lucas, Tanis J Ferman, William P Cheshire, Jay A van Gerpen, Ryan J Uitti, Zbigniew K Wszolek, Owen A Ross, Dennis W Dickson, Neill R Graff-Radford, Nilüfer Ertekin-Taner
Publikováno v:
Molecular Neurodegeneration, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract Background Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer’s disease (AD). Methods We tested the association of these variants with five neurodegenerati
Externí odkaz:
https://doaj.org/article/26aae77c26cb4a6c9e381ff00070adea
Autor:
Rina Hashimoto, Jay A. van Gerpen, Yari Carlomagno, Mark S. LeDoux, Ronald F. Pfeiffer, Joseph H. Friedman, Yuka Koike, Samuel S. Giles, Ashley B. Pena, Leonard Petrucelli, Karen Jansen-West, Jaimin S. Shah, Josephine F. Huang, Philip W. Tipton, Jacek Zaremba, Venka Veerappan, Zbigniew K. Wszolek, John D. Fryer, Ikuko Aiba, Klaas J. Wierenga, Judith A. Dunmore, Jan O. Aasly, Ryan J. Uitti, Yuping Song, Rana Hanna Al-Shaikh, Mercedes Prudencio
Publikováno v:
Parkinsonism & related disorders
Introduction Accumulation of polyglutamine (polyQ) ataxin-3 (ATXN3) contributes to the pathobiology of spinocerebellar ataxia type 3 (SCA3). Recently, we showed that polyQ ATXN3 is elevated in the plasma and cerebrospinal fluid (CSF) of SCA3 patients
Autor:
Zbigniew K. Wszolek, Owen A. Ross, Anna I. Wernick, William P. Cheshire, Alexandra I. Soto-Beasley, Jay A. van Gerpen, Rana Hanna Al-Shaikh, Ryan J. Uitti, Audrey Strongosky
Publikováno v:
Neurologia i Neurochirurgia Polska. 54:350-355
Aim of the study. Multiple system atrophy (MSA) and spinocerebellar ataxia (SCA) share similar symptomatology. We describe a rare occurrence of familial MSA that proved to be SCA6 upon genetic analysis. Materials and methods. Eighty MSA patients were
Autor:
Jay A. van Gerpen, Kimberly G. Harris, Owen A. Ross, Mieke M. van Haelst, Thomas R. Caulfield, Paldeep S. Atwal, Murray L. Whitelaw, Patrick R. Blackburn, Adrienne E. Sullivan, Mellody I. Cooiman, Eric W. Klee, Klaas J. Wierenga, David C. Bersten, Alexis G. Gerassimou, Lotte Kleinendorst
Publikováno v:
Blackburn, P R, Sullivan, A E, Gerassimou, A G, Kleinendorst, L, Bersten, D C, Cooiman, M, Harris, K G, Wierenga, K J, Klee, E W, van Gerpen, J A, Ross, O A, van Haelst, M M, Whitelaw, M L, Caulfield, T R & Atwal, P S 2020, ' Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity ', The Journal of clinical endocrinology and metabolism, vol. 105, no. 1, pp. 1-7 . https://doi.org/10.1210/clinem/dgz192
Journal of clinical endocrinology and metabolism, 105(1), 1-7. The Endocrine Society
The Journal of clinical endocrinology and metabolism, 105(1), 1-7. The Endocrine Society
Journal of clinical endocrinology and metabolism, 105(1), 1-7. The Endocrine Society
The Journal of clinical endocrinology and metabolism, 105(1), 1-7. The Endocrine Society
Context Single-minded homologue 1 (SIM1) is a transcription factor with several physiological and developmental functions. Haploinsufficiency of SIM1 is associated with early-onset obesity with or without Prader-Willi–like (PWL) features and may ex
Autor:
Ryan J. Uitti, Zbigniew K. Wszolek, Phillip A. Low, Danielle Brushaber, Eduardo E. Benarroch, William P. Cheshire, Rana Hanna Al-Shaikh, Keith A. Josephs, Tanis J. Ferman, Wolfgang Singer, Michael G. Heckman, Jeremy K. Cutsforth-Gregory, Dennis W. Dickson, J. Eric Ahlskog, Jay A. van Gerpen, Philip W. Tipton
Publikováno v:
Neurology. 93:e1339-e1347
ObjectiveTo evaluate the pattern and severity of autonomic dysfunction in autopsy-confirmed progressive supranuclear palsy (PSP) compared to α-synuclein pathology.MethodsAutopsy-confirmed cases of 14 patients with PSP, 18 with multiple system atroph
Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank
Autor:
Zbigniew K. Wszolek, Shunsuke Koga, Jay A. van Gerpen, Ryan J. Uitti, Erika D. Driver-Dunckley, Philip W. Tipton, William P. Cheshire, Dennis W. Dickson, Neill R. Graff-Radford
Publikováno v:
Parkinsonismrelated disorders. 89
Background Multiple system atrophy (MSA) presents with various combinations of autonomic dysfunction, parkinsonism, and cerebellar ataxia. Although clinical diagnostic criteria have been widely used, the sensitivity and specificity are suboptimal. Th