Spinocerebellar Ataxia 15: A Phenotypic Review and Expansion

Por Tipton, Philip W., Guthrie, Kimberly, Strongosky, Audrey, Reimer, Ronald, Wszolek, Zbigniew
Publicado no Neurol Neurochir Pol (2016)

Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia

Por Fujioka, Shinsuke, Strongosky, Audrey J., Hassan, Anhar, Rademakers, Rosa, Dickson, Dennis W., Wszolek, Zbigniew K.
Publicado no Parkinsonism Relat Disord (2015)

Cancer in Parkinson’s disease

Por Tacik, Pawel, Curry, Sadie, Fujioka, Shinsuke, Strongosky, Audrey, Uitti, Ryan J., van Gerpen, Jay A., Diehl, Nancy N., Heckman, Michael G., Wszolek, Zbigniew K.
Publicado no Parkinsonism Relat Disord (2016)

Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy

Por Fujioka, Shinsuke, Algom, Avi A., Murray, Melissa E., Strongosky, Audrey, Soto-Ortolaza, Alexandra I., Rademakers, Rosa, Ross, Owen A., Wszolek, Zbigniew K., Dickson, Dennis W.
Publicado em 2013

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

Por Fujioka, Shinsuke, Sundal, Christina, Strongosky, Audrey J., Castanedes, Monica Case, Rademakers, Rosa, Ross, Owen A., Vilariño-Güell, Carles, Farrer, Matthew J., Wszolek, Zbigniew K., Dickson, Dennis W.
Publicado em 2012

Investigating the role of FUS exonic variants in Essential Tremor

Por Labbé, Catherine, Soto-Ortolaza, Alexandra I, Rayaprolu, Sruti, Harriott, Andrea M., Strongosky, Audrey J, Uitti, Ryan J, Van Gerpen, Jay A, Wszolek, Zbigniew K, Ross, Owen A
Publicado em 2013

Anatomy of Disturbed Sleep in Pallido-Ponto-Nigral Degeneration

Por Spector, Andrew R., Dugger, Brittany N., Wszolek, Zbigniew K., Uitti, Ryan J., Fredrickson, Paul, Kaplan, Joseph, Boeve, Bradley F., Dickson, Dennis W., Strongosky, Audrey, Lin, Siong-chi
Publicado em 2011

Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1

Por Tacik, Pawel, Guthrie, Kimberly J., Strongosky, Audrey J., Broderick, Daniel F., Riegert-Johnson, Douglas L., Tang, Sha, El-Khechen, Dima, Parker, Alexander S., Ross, Owen A., Wszolek, Zbigniew K.
Publicado no Mayo Clin Proc (2015)

Three families with Perry syndrome from distinct parts of the world

Por Tacik, Pawel, Fiesel, Fabienne C., Fujioka, Shinsuke, Ross, Owen A., Pretelt, Felipe, Cardona, Camilo Castañeda, Kidd, Alexa, Hlavac, Michael, Raizis, Anthony, Okun, Michael S., Traynor, Sharleen, Strongosky, Audrey J., Springer, Wolfdieter, Wszolek, Zbigniew K.
Publicado em 2014

A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study

Por Fujioka, Shinsuke, Boeve, Bradley F., Parisi, Joseph E., Tacik, Pawel, Aoki, Naoya, Strongosky, Audrey J., Baker, Matt, Ross, Owen A., Rademakers, Rosa, Sossi, Vesna, Dickson, Dennis W., Stoessl, A. Jon, Wszolek, Zbigniew K.
Publicado no Parkinsonism Relat Disord (2014)

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olf...

Por Markopoulou, Katerina, Chase, Bruce A., Robowski, Piotr, Strongosky, Audrey, Narożańska, Ewa, Sitek, Emilia J., Berdynski, Mariusz, Barcikowska, Maria, Baker, Matt C., Rademakers, Rosa, Sławek, Jarosław, Klein, Christine, Hückelheim, Katja, Kasten, Meike, Wszolek, Zbigniew K.
Publicado no PLoS One (2016)

Three sib-pairs of autopsy-confirmed progressive supranuclear palsy

Por Fujioka, Shinsuke, Sanchez Contreras, Monica Y., Strongosky, Audrey J., Ogaki, Kotaro, Whaley, Nathaniel Robb, Tacik, Pawel M., van Gerpen, Jay A., Uitti, Ryan J, Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa, Dickson, Dennis W.
Publicado no Parkinsonism Relat Disord (2014)

GWAS risk factors in Parkinson’s disease: LRRK2 coding variation and genetic interaction with PARK16

Por Soto-Ortolaza, Alexandra I, Heckman, Michael G, Labbé, Catherine, Serie, Daniel J, Puschmann, Andreas, Rayaprolu, Sruti, Strongosky, Audrey, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Czyzewski, Krzysztof, Lynch, Timothy, Uitti, Ryan J, Wszolek, Zbigniew K, Ross, Owen A
Publicado em 2013

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Por Baker, Matt, Strongosky, Audrey J., Sanchez-Contreras, Monica Y., Yang, Shan, Ferguson, Will, Calne, Donald B., Calne, Susan, Stoessl, A. Jon, Allanson, Judith E., Broderick, Daniel F., Hutton, Michael L., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Rademakers, Rosa
Publicado em 2013

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 no PLoS One (2014)

Analysis of the C9orf72 repeat in Parkinson’s disease, essential tremor and restless legs syndrome

Por DeJesus-Hernandez, Mariely, Rayaprolu, Sruti, Soto-Ortolaza, Alexandra I., Rutherford, Nicola J., Heckman, Michael G., Traynor, Sharleen, Strongosky, Audrey, Graff-Radford, Neill, Van Gerpen, Jay, Uitti, Ryan J., Shih, Jerry J., Lin, Siong-Chi, Wszolek, Zbigniew K., Rademakers, Rosa, Ross, Owen A.
Publicado em 2012

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

Por Wren, Melissa C., Zhao, Jing, Liu, Chia-Chen, Murray, Melissa E., Atagi, Yuka, Davis, Mary D., Fu, Yuan, Okano, Hirotaka J., Ogaki, Kotaro, Strongosky, Audrey J., Tacik, Pawel, Rademakers, Rosa, Ross, Owen A., Dickson, Dennis W., Wszolek, Zbigniew K., Kanekiyo, Takahisa, Bu, Guojun
Publicado no Mol Neurodegener (2015)

The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing Interval

Por Zimprich, Alexander, Müller-Myhsok, Bertram, Farrer, Matthew, Leitner, Petra, Sharma, Manu, Hulihan, Mary, Lockhart, Paul, Strongosky, Audrey, Kachergus, Jennifer, Calne, Donald B., Stoessl, Jon, Uitti, Ryan J., Pfeiffer, Ronald F., Trenkwalder, Claudia, Homann, Nikolaus, Ott, Erwin, Wenzel, Karoline, Asmus, Friedrich, Hardy, John, Wszolek, Zbigniew, Gasser, Thomas
Publicado em 2004

A novel tau mutation, p.K317N, causes globular glial tauopathy

Por Tacik, Pawel, DeTure, Michael, Lin, Wen-Lang, Contreras, Monica Sanchez, Wojtas, Aleksandra, Hinkle, Kelly M., Fujioka, Shinsuke, Baker, Matthew C., Walton, Ronald L., Carlomagno, Yari, Brown, Patricia H., Strongosky, Audrey J., Kouri, Naomi, Murray, Melissa E., Petrucelli, Leonard, Josephs, Keith A., Rademakers, Rosa, Ross, Owen A., Wszolek, Zbigniew K., Dickson, Dennis W.
Publicado no Acta Neuropathol (2015)

Serotonin transporter binding and motor onset of Parkinson's disease in asymptomatic LRRK2 mutation carriers: a cross-sectional study

Por Wile, Daryl J, Agarwal, Pankaj A, Schulzer, Michael, Mak, Edwin, Dinelle, Katherine, Shahinfard, Elham, Vafai, Nasim, Hasegawa, Kazuko, Zhang, Jing, McKenzie, Jessamyn, Neilson, Nicole, Strongosky, Audrey, Uitti, Ryan J, Guttman, Mark, Zabetian, Cyrus P, Ding, Yu-Shin, Adam, Mike, Aasly, Jan, Wszolek, Zbigniew K, Farrer, Matthew, Sossi, Vesna, Stoessl, A Jon
Publicado no Lancet Neurol (2017)