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A Man with Rapid Speech and Handwriting.
Published in:
Movement Disorders Clinical Practice, 2023, v. 10, n. 8, p. 1217, doi. 10.1002/mdc3.13821
By:
- Bhansali, Sakhi;
- Tipton, Philip W.;
- van Gerpen, Jay
Publication type:
Article
A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8.
Published in:
Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 270, doi. 10.1002/mdc3.12401
By:
- Gass, Jennifer M.;
- McKay, Jake;
- Guthrie, Kimberly J.;
- Boczek, Nicole;
- Atwal, Paldeep S.;
- Van Gerpen, Jay
Publication type:
Article
Neurologic Manifestations and Outcome of West Nile Virus Infection.
Published in:
JAMA: Journal of the American Medical Association, 2003, v. 290, n. 4, p. 511, doi. 10.1001/jama.290.4.511
By:
- Sejvar, James J.;
- Haddad, Maryam B.;
- Tierney, Bruce C.;
- Campbell, Grant L.;
- Marfin, Anthony A.;
- Van Gerpen, Jay A.;
- Fleischauer, Aaron;
- Leis, A. Arturo;
- Stokic, Dobrivoje S.;
- Petersen, Lyle R.
Publication type:
Article
Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2019, v. 15, n. 9, p. 1218, doi. 10.1016/j.jalz.2019.04.011
By:
- Sakae, Nobutaka;
- Josephs, Keith A.;
- Litvan, Irene;
- Murray, Melissa E.;
- Duara, Ranjan;
- Uitti, Ryan J.;
- Wszolek, Zbigniew K.;
- van Gerpen, Jay;
- Graff‐Radford, Neil R.;
- Dickson, Dennis W.
Publication type:
Article
The limbic and neocortical contribution of α‐synuclein, tau, and amyloid β to disease duration in dementia with Lewy bodies.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2018, v. 14, n. 3, p. 330, doi. 10.1016/j.jalz.2017.09.014
By:
- Ferman, Tanis J.;
- Aoki, Naoya;
- Crook, Julia E.;
- Murray, Melissa E.;
- Graff‐Radford, Neill R.;
- van Gerpen, Jay A.;
- Uitti, Ryan J.;
- Wszolek, Zbigniew K.;
- Graff‐Radford, Jonathan;
- Pedraza, Otto;
- Kantarci, Kejal;
- Boeve, Bradley F.;
- Dickson, Dennis W.
Publication type:
Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Published in:
2019
By:
- Blackburn, Patrick R;
- Sullivan, Adrienne E;
- Gerassimou, Alexis G;
- Kleinendorst, Lotte;
- Bersten, David C;
- Cooiman, Mellody;
- Harris, Kimberly G;
- Wierenga, Klaas J;
- Klee, Eric W;
- van Gerpen, Jay A;
- Ross, Owen A;
- van Haelst, Mieke M;
- Whitelaw, Murray L;
- Caulfield, Thomas R;
- Atwal, Paldeep S
Publication type:
journal article
West Nile Poliomyelitis.
Published in:
2004
By:
- Sejvar, James J.;
- Leis, Arturo;
- Van Gerpen, Jay A.;
- Marfin, Anthony A.;
- Petersen, Lyle R.
Publication type:
Letter
Acute flaccid paralysis and West Nile virus infection.
Published in:
2003
By:
- 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.
Publication type:
journal article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
By:
- 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.
Publication type:
Article
Analysis of Nuclear Export Sequence Regions of FUS-Related RNA-Binding Proteins in Essential Tremor.
Published in:
PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111989
By:
- 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.
Publication type:
Article
Predictive value of symptoms and signs in ulnar neuropathy at the elbow.
Published in:
2016
By:
- Rubin, Devon I.;
- Dimberg, Elliot L.;
- Mauricio, Elizabeth;
- Gerpen, Jay A. Van;
- Whitlock, Julia
Publication type:
journal article
Utility of an EMG mapping study in treating cervical dystonia.
Published in:
2000
By:
- Van Gerpen, Jay A.;
- Matsumoto, Joseph Y.;
- Ahlskog, J. Eric;
- Maraganore, Demetrius M.;
- McManis, Philip G.;
- Van Gerpen, J A;
- Matsumoto, J Y;
- Ahlskog, J E;
- Maraganore, D M;
- McManis, P G
Publication type:
journal article
Familial Progressive Supranuclear Palsy: A Literature Review.
Published in:
Neurodegenerative Diseases, 2014, v. 13, n. 2/3, p. 180, doi. 10.1159/000354975
By:
- Fujioka, Shinsuke;
- Van Gerpen, Jay A.;
- Uitti, Ryan J.;
- Dickson, Dennis W.;
- Wszolek, Zbigniew K.
Publication type:
Article
Sudor Anglicus: an epidemic targeting the autonomic nervous system.
Published in:
Clinical Autonomic Research, 2020, v. 30, n. 4, p. 317, doi. 10.1007/s10286-020-00698-x
By:
- Cheshire, William P.;
- van Gerpen, Jay A.;
- Sejvar, James J.
Publication type:
Article
VPS35 and DNAJC13 disease-causing variants in essential tremor.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 6, p. 887, doi. 10.1038/ejhg.2014.164
By:
- Rajput, Alex;
- Ross, Jay P;
- Bernales, Cecily Q;
- Rayaprolu, Sruti;
- Soto-Ortolaza, Alexandra I;
- Ross, Owen A;
- van Gerpen, Jay;
- Uitti, Ryan J;
- Wszolek, Zbigniew K;
- Rajput, Ali H;
- Vilariño-Güell, Carles
Publication type:
Article
Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology.
Published in:
JAMA Neurology, 2019, v. 76, n. 6, p. 710, doi. 10.1001/jamaneurol.2019.0250
By:
- Heckman, Michael G.;
- Brennan, Rebecca R.;
- Labbé, Catherine;
- Soto, Alexandra I.;
- Koga, Shunsuke;
- DeTure, Michael A.;
- Murray, Melissa E.;
- Petersen, Ronald C.;
- Boeve, Bradley F.;
- van Gerpen, Jay A.;
- Uitti, Ryan J.;
- Wszolek, Zbigniew K.;
- Rademakers, Rosa;
- Dickson, Dennis W.;
- Ross, Owen A.
Publication type:
Article
Personality Changes, Executive Dysfunction, and Motor and Memory Impairment.
Published in:
JAMA Neurology, 2017, v. 74, n. 2, p. 245, doi. 10.1001/jamaneurol.2016.2782
By:
- López Chiriboga, Alfonso Sebastian;
- Takuya Konno;
- van Gerpen, Jay A.
Publication type:
Article
Co‐occurrence of a novel <italic>PDGFRB</italic> variant and likely pathogenic variant in <italic>CASR</italic> in an individual with extensive intracranial calcifications and hypocalcaemia.
Published in:
2018
By:
- DeMeo, Natasha N.;
- Burgess, Jeremy D.;
- Blackburn, Patrick R.;
- Gass, Jennifer M.;
- Richter, John;
- Atwal, Herjot K.;
- van Gerpen, Jay A.;
- Atwal, Paldeep S.
Publication type:
Case Study
Whole‐exome sequencing for variant discovery in blepharospasm.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 601, doi. 10.1002/mgg3.411
By:
- 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.
Publication type:
Article
Ataxin-2 repeat-length variation and neurodegeneration.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 16, p. 3207, doi. 10.1093/hmg/ddr227
By:
- Ross, Owen A.;
- Rutherford, Nicola J.;
- Baker, Matt;
- Soto-Ortolaza, Alexandra I.;
- Carrasquillo, Minerva M.;
- DeJesus-Hernandez, Mariely;
- Adamson, Jennifer;
- Li, Ma;
- Volkening, Kathryn;
- Finger, Elizabeth;
- Seeley, William W.;
- Hatanpaa, Kimmo J.;
- Lomen-Hoerth, Catherine;
- Kertesz, Andrew;
- Bigio, Eileen H.;
- Lippa, Carol;
- Woodruff, Bryan K.;
- Knopman, David S.;
- White, Charles L.;
- Van Gerpen, Jay A.
Publication type:
Article
Sensitivity and Specificity of Diagnostic Criteria for Progressive Supranuclear Palsy.
Published in:
2019
By:
- Ali, Farwa;
- Martin, Peter R.;
- Botha, Hugo;
- Ahlskog, J. Eric;
- Bower, James H.;
- Masumoto, Joseph Y.;
- Maraganore, Demetrius;
- Hassan, Anhar;
- Eggers, Scott;
- Boeve, Bradley F.;
- Knopman, David S.;
- Drubach, Daniel;
- Petersen, Ronald C.;
- Dunkley, Erika Driver;
- Gerpen, Jay;
- Uitti, Ryan;
- Whitwell, Jennifer L.;
- Dickson, Dennis W.;
- Josephs, Keith A.;
- van Gerpen, Jay
Publication type:
journal article
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.
Published in:
Acta Neuropathologica, 2018, v. 136, n. 3, p. 389, doi. 10.1007/s00401-018-1878-z
By:
- Koga, Shunsuke;
- Kouri, Naomi;
- Walton, Ronald L.;
- Ebbert, Mark T. W.;
- Josephs, Keith A.;
- Litvan, Irene;
- Graff-Radford, Neill;
- Ahlskog, J. Eric;
- Uitti, Ryan J.;
- Van Gerpen, Jay A.;
- Boeve, Bradley F.;
- Parks, Adam;
- Ross, Owen A.;
- Dickson, Dennis W.
Publication type:
Article
Brief.
Published in:
Journal of Child Neurology, 1998, v. 13, n. 4, p. 184
By:
- Wong, Brenda L.Y.;
- deGrauw, Ton;
- Fogelson, M. Harold;
- Van Gerpen, Jay A.;
- Kelly, Maria;
- Fort, Daniel W.;
- Xue Ming;
- Wang, Michael M.;
- Zee, David;
- Katz, Richard M.;
- Freeman, John M.;
- Sztriha, Laszlo;
- Punnose, John;
- Prais, Vaclav;
- El-Khider, Ali;
- Chandran, Prem;
- Al Suhaili, Abdul Rahim;
- Tabarki, B.;
- Husson, B.
Publication type:
Article
ASSOCIATIONS OF GENETIC RISK VARIANTS FOR PARKINSON'S DISEASE (PD) AND FOR COGNITIVE IMPAIRMENT WITH CLINICAL FEATURES IN PD.
Published in:
Neurologijos Seminarai, 2018, v. 22, n. 3, p. 280
By:
- Wszolek, Zbigniew K.;
- Deutschländer, Angela;
- Konno, Takuya;
- Soto, Alexandra;
- Ossi, Maryam;
- Strongosky, Audrey;
- Heckman, Michael;
- Uitti, Ryan;
- Van Gerpen, Jay;
- Ross, Owen
Publication type:
Article
Overdrainage shunt complications in idiopathic normal-pressure hydrocephalus and lumbar puncture opening pressure.
Published in:
Journal of Neurosurgery, 2013, v. 119, n. 6, p. 1498, doi. 10.3171/2013.7.JNS13484
By:
- AIN KHAN, QURAT UL;
- WHAREN, ROBERT E.;
- GREWAL, SANJEET S.;
- THOMAS, COLLEEN S.;
- GORDON DEEN JR., H.;
- REIMER, RONALD;
- VAN GERPEN, JAY A.;
- CROOK, JULIA E.;
- GRAFF-RADFORD, NEILL R.
Publication type:
Article
Multiple system atrophy and apolipoprotein E.
Published in:
2018
By:
- Ogaki, Kotaro;
- Martens, Yuka A.;
- Heckman, Michael G.;
- Koga, Shunsuke;
- Labbé, Catherine;
- Lorenzo‐Betancor, Oswaldo;
- Wernick, Anna I.;
- Walton, Ronald L.;
- Soto, Alexandra I.;
- Vargas, Emily R.;
- Nielsen, Henrietta M.;
- Fujioka, Shinsuke;
- Kanekiyo, Takahisa;
- Uitti, Ryan J.;
- van Gerpen, Jay A.;
- Cheshire, William P.;
- Wszolek, Zbigniew K.;
- Low, Phillip A.;
- Singer, Wolfgang;
- Dickson, Dennis W.
Publication type:
journal article
Cognitive impairment in progressive supranuclear palsy is associated with tau burden.
Published in:
Movement Disorders, 2017, v. 32, n. 12, p. 1772, doi. 10.1002/mds.27198
By:
- Koga, Shunsuke;
- Parks, Adam;
- Kasanuki, Koji;
- Sanchez‐Contreras, Monica;
- Baker, Matthew C.;
- Josephs, Keith A.;
- Ahlskog, J. Eric;
- Uitti, Ryan J.;
- Graff‐Radford, Neill;
- van Gerpen, Jay A.;
- Wszolek, Zbigniew K.;
- Rademakers, Rosa;
- Dickson, Dennis W.
Publication type:
Article
Profile of cognitive impairment and underlying pathology in multiple system atrophy.
Published in:
2017
By:
- Koga, Shunsuke;
- Parks, Adam;
- Uitti, Ryan J.;
- van Gerpen, Jay A.;
- Cheshire, William P.;
- Wszolek, Zbigniew K.;
- Dickson, Dennis W.
Publication type:
journal article
Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy.
Published in:
2017
By:
- Koga, Shunsuke;
- Sanchez‐Contreras, Monica;
- Josephs, Keith A.;
- Uitti, Ryan J.;
- Graff‐Radford, Neill;
- Gerpen, Jay A.;
- Cheshire, William P.;
- Wszolek, Zbigniew K.;
- Rademakers, Rosa;
- Dickson, Dennis W.;
- Sanchez-Contreras, Monica;
- Graff-Radford, Neill;
- van Gerpen, Jay A
Publication type:
journal article
Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
Published in:
2016
By:
- Koga, Shunsuke;
- Josephs, Keith A.;
- Ogaki, Kotaro;
- Labbé, Catherine;
- Uitti, Ryan J.;
- Graff‐Radford, Neill;
- van Gerpen, Jay A.;
- Cheshire, William P.;
- Aoki, Naoya;
- Rademakers, Rosa;
- Wszolek, Zbigniew K.;
- Ross, Owen A.;
- Dickson, Dennis W.
Publication type:
journal article
The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.
Published in:
Movement Disorders, 2011, v. 26, n. 3, p. 549, doi. 10.1002/mds.23551
By:
- Xiao, Jianfeng;
- Zhao, Yu;
- Bastian, Robert W.;
- Perlmutter, Joel S.;
- Racette, Brad A.;
- Tabbal, Samer D.;
- Karimi, Morvarid;
- Paniello, Randal C.;
- Wszolek, Zbigniew K.;
- Uitti, Ryan J.;
- Van Gerpen, Jay A.;
- Simon, David K.;
- Tarsy, Daniel;
- Hedera, Peter;
- Truong, Daniel D.;
- Frei, Karen P.;
- Blitzer, Andrew;
- Rudzińska, Monika;
- Pfeiffer, Ronald F.;
- Le, Carrie
Publication type:
Article
Adult-onset leg dystonia due to a missense mutation in THAP1.
Published in:
Movement Disorders, 2010, v. 25, n. 9, p. 1306, doi. 10.1002/mds.23086
By:
- Van Gerpen, Jay A.;
- LeDoux, Mark S.;
- Wszolek, Zbigniew K.
Publication type:
Article
Ciprofloxacin-induced chorea.
Published in:
2005
By:
- Azar, Susan;
- Ramjiani, Amisha;
- Van Gerpen, Jay A.
Publication type:
Case Study
Levodopa-dyskinesia incidence by age of Parkinson's disease onset.
Published in:
Movement Disorders, 2005, v. 20, n. 3, p. 342, doi. 10.1002/mds.20360
By:
- Kumar, Neeraj;
- Van Gerpen, Jay A.;
- Bower, James H.;
- Ahlskog, J. Eric
Publication type:
Article
Combined pergolide-associated valvular heart disease and achilles tendon contractures.
Published in:
2012
By:
- Freeman, William D.;
- Dorsher, Peter T.;
- Safford, Robert E.;
- Van Gerpen, Jay;
- Edwards, William D.
Publication type:
Case Study
ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans.
Published in:
Molecular Neurodegeneration, 2018, v. 13, n. 1, p. N.PAG, doi. 10.1186/s13024-018-0289-x
By:
- 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
Publication type:
Article
Leuprolide-Induced Myopathy.
Published in:
Journal of the American Geriatrics Society, 2002, v. 50, n. 10, p. 1746, doi. 10.1046/j.1532-5415.2002.50474.x
By:
- Van Gerpen, Jay A.;
- McKinley, Kevin L.
Publication type:
Article

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