HUMAN GENETICS AS A TOOL TO IDENTIFY PROGRANULIN REGULATORS

অনুযায়ী Nicholson, Alexandra M., Finch, NiCole A., Rademakers, Rosa
প্রকাশিত 2011

Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically

অনুযায়ী Pao, Winnie C., Dickson, Dennis W., Crook, Julia E., Finch, NiCole A., Rademakers, Rosa, Graff-Radford, Neill R.
প্রকাশিত 2011

Genetic screening and functional characterization of PDGFRB mutations associated with Basal Ganglia Calcification of Unknown Etiology

অনুযায়ী Sanchez-Contreras, Monica, Baker, Matthew C., Finch, NiCole A., Nicholson, Alexandra, Wojtas, Aleksandra, Wszolek, Zbigniew K., Ross, Owen A., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত 2014

Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis

অনুযায়ী Rutherford, Nicola J., Finch, NiCole A., DeJesus-Hernandez, Mariely, Crook, Richard J.P., Lomen-Hoerth, Catherine, Wszolek, Zbigniew K., Uitti, Ryan J., Graff-Radford, Neill R., Rademakers, Rosa
প্রকাশিত 2010

Progranulin protein levels are differently regulated in plasma and CSF

অনুযায়ী Nicholson, Alexandra M., Finch, NiCole A., Thomas, Colleen S., Wojtas, Aleksandra, Rutherford, Nicola J., Mielke, Michelle M., Roberts, Rosebud O., Boeve, Bradley F., Knopman, David S., Petersen, Ronald C., Rademakers, Rosa
প্রকাশিত 2014

A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome

অনুযায়ী Johnston, Jennifer J., Sanchez-Contreras, Monica Y., Keppler-Noreuil, Kim M., Sapp, Julie, Crenshaw, Molly, Finch, NiCole A., Cormier-Daire, Valerie, Rademakers, Rosa, Sybert, Virginia P., Biesecker, Leslie G.
প্রকাশিত Am J Hum Genet (2015)

CSF1R mutations link POLD and HDLS as a single disease entity

অনুযায়ী Nicholson, Alexandra M., Baker, Matt C., Finch, NiCole A., Rutherford, Nicola J., Wider, Christian, Graff-Radford, Neill R., Nelson, Peter T., Clark, H. Brent, Wszolek, Zbigniew K., Dickson, Dennis W., Knopman, David S., Rademakers, Rosa
প্রকাশিত 2013

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome

অনুযায়ী Botha, Hugo, Finch, NiCole A., Gavrilova, Ralitza H., Machulda, Mary M., Fields, Julie A., Lowe, Val J., Petersen, Ronald C., Jack, Clifford R., Dheel, Christina M., Gearhart, Debra J., Knopman, David S., Rademakers, Rosa, Boeve, Bradley F.
প্রকাশিত Neurol Genet (2017)

Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers

অনুযায়ী Jackson, Jazmyne L., Finch, NiCole A., Baker, Matthew C., Kachergus, Jennifer M., DeJesus-Hernandez, Mariely, Pereira, Kimberly, Christopher, Elizabeth, Prudencio, Mercedes, Heckman, Michael G., Thompson, E. Aubrey, Dickson, Dennis W., Shah, Jaimin, Oskarsson, Björn, Petrucelli, Leonard, Rademakers, Rosa, van Blitterswijk, Marka
প্রকাশিত Mol Neurodegener (2020)

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

অনুযায়ী Sanchez-Contreras, Monica Y., Kouri, Naomi, Cook, Casey N., Serie, Daniel J., Heckman, Michael G., Finch, NiCole A., Caselli, Richard J., Uitti, Ryan J., Wszolek, Zbigniew K., Graff-Radford, Neill, Petrucelli, Leonard, Wang, Li-San, Schellenberg, Gerard D., Dickson, Dennis W., Rademakers, Rosa, Ross, Owen A.
প্রকাশিত Mol Neurodegener (2018)

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

অনুযায়ী Nicholson, Alexandra M., Finch, NiCole A., Wojtas, Aleksandra, Baker, Matt C., Perkerson, Ralph B., Castanedes-Casey, Monica, Rousseau, Linda, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Hsiung, Ging-Yuek R., Mackenzie, Ian R., Finger, Elizabeth, Boeve, Bradley F., Ertekin-Taner, Nilüfer, Graff-Radford, Neill R., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত 2013

Loss of TMEM106B leads to myelination deficits: implications for frontotemporal dementia treatment strategies

অনুযায়ী Zhou, Xiaolai, Nicholson, Alexandra M, Ren, Yingxue, Brooks, Mieu, Jiang, Peizhou, Zuberi, Aamir, Phuoc, Hung Nguyen, Perkerson, Ralph B, Matchett, Billie, Parsons, Tammee M, Finch, NiCole A, Lin, Wenlang, Qiao, Wenhui, Castanedes-Casey, Monica, Phillips, Virginia, Librero, Ariston L, Asmann, Yan, Bu, Guojun, Murray, Melissa E, Lutz, Cathleen, Dickson, Dennis W, Rademakers, Rosa
প্রকাশিত Brain (2020)

Associations of repeat sizes with clinical and pathological characteristics in C9ORF72 expansion carriers (Xpansize-72): a cross-sectional cohort study

অনুযায়ী van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Niemantsverdriet, Ellis, Murray, Melissa E, Heckman, Michael G, Diehl, Nancy N, Brown, Patricia H, Baker, Matthew C, Finch, NiCole A, Bauer, Peter O, Serrano, Geidy, Beach, Thomas G, Josephs, Keith A, Knopman, David S, Petersen, Ronald C, Boeve, Bradley F, Graff-Radford, Neill R, Boylan, Kevin B, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa
প্রকাশিত 2013

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

অনুযায়ী Nicholson, Alexandra M., Zhou, Xiaolai, Perkerson, Ralph B., Parsons, Tammee M., Chew, Jeannie, Brooks, Mieu, DeJesus-Hernandez, Mariely, Finch, NiCole A., Matchett, Billie J., Kurti, Aishe, Jansen-West, Karen R., Perkerson, Emilie, Daughrity, Lillian, Castanedes-Casey, Monica, Rousseau, Linda, Phillips, Virginia, Hu, Fenghua, Gendron, Tania F., Murray, Melissa E., Dickson, Dennis W., Fryer, John D., Petrucelli, Leonard, Rademakers, Rosa
প্রকাশিত Acta Neuropathol Commun (2018)

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

অনুযায়ী van Blitterswijk, Marka, Gendron, Tania F., Baker, Matthew C., DeJesus-Hernandez, Mariely, Finch, NiCole A., Brown, Patricia H., Daughrity, Lillian M., Murray, Melissa E., Heckman, Michael G., Jiang, Jie, Lagier-Tourenne, Clotilde, Edbauer, Dieter, Cleveland, Don W., Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Petrucelli, Leonard, Boeve, Bradley F., Graff-Radford, Neill R., Boylan, Kevin B., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত Acta Neuropathol (2015)

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

অনুযায়ী Dickson, Dennis W., Baker, Matthew C., Jackson, Jazmyne L., DeJesus-Hernandez, Mariely, Finch, NiCole A., Tian, Shulan, Heckman, Michael G., Pottier, Cyril, Gendron, Tania F., Murray, Melissa E., Ren, Yingxue, Reddy, Joseph S., Graff-Radford, Neill R., Boeve, Bradley F., Petersen, Ronald C., Knopman, David S., Josephs, Keith A., Petrucelli, Leonard, Oskarsson, Björn, Sheppard, John W., Asmann, Yan W., Rademakers, Rosa, van Blitterswijk, Marka
প্রকাশিত Acta Neuropathol Commun (2019)

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases

অনুযায়ী DeJesus-Hernandez, Mariely, Aleff, Ross A, Jackson, Jazmyne L, Finch, NiCole A, Baker, Matthew C, Gendron, Tania F, Murray, Melissa E, McLaughlin, Ian J, Harting, John R, Graff-Radford, Neill R, Oskarsson, Björn, Knopman, David S, Josephs, Keith A, Boeve, Bradley F, Petersen, Ronald C, Fryer, John D, Petrucelli, Leonard, Dickson, Dennis W, Rademakers, Rosa, Ebbert, Mark T W, Wieben, Eric D, van Blitterswijk, Marka
প্রকাশিত Brain (2021)

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

অনুযায়ী DeJesus-Hernandez, Mariely, Finch, NiCole A., Wang, Xue, Gendron, Tania F., Bieniek, Kevin F., Heckman, Michael G., Vasilevich, Aliaksei, Murray, Melissa E., Rousseau, Linda, Weesner, Rachael, Lucido, Anthony, Parsons, Meeia, Chew, Jeannie, Josephs, Keith A., Parisi, Joseph E., Knopman, David S., Petersen, Ronald C., Boeve, Bradley F., Graff-Radford, Neill R., de Boer, Jan, Asmann, Yan W., Petrucelli, Leonard, Boylan, Kevin B., Dickson, Dennis W., van Blitterswijk, Marka, Rademakers, Rosa
প্রকাশিত Acta Neuropathol (2017)

Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis

অনুযায়ী DeJesus-Hernandez, Mariely, Mackenzie, Ian R., Boeve, Bradley F., Boxer, Adam L., Baker, Matt, Rutherford, Nicola J., Nicholson, Alexandra M., Finch, NiCole A., Gilmer, Heather Flynn, Adamson, Jennifer, Kouri, Naomi, Wojtas, Aleksandra, Sengdy, Pheth, Hsiung, Ging-Yuek R., Karydas, Anna, Seeley, William W., Josephs, Keith A., Coppola, Giovanni, Geschwind, Daniel H., Wszolek, Zbigniew K., Feldman, Howard, Knopman, David, Petersen, Ronald, Miller, Bruce L., Dickson, Dennis, Boylan, Kevin, Graff-Radford, Neill, Rademakers, Rosa
প্রকাশিত 2011

TYROBP genetic variants in early-onset Alzheimer’s disease

অনুযায়ী Pottier, Cyril, Ravenscroft, Thomas A., Brown, Patricia H., Finch, NiCole A., Baker, Matt, Parsons, Meeia, Asmann, Yan W., Ren, Yingxue, Christopher, Elizabeth, Levitch, Denise, van Blitterswijk, Marka, Cruchaga, Carlos, Campion, Dominique, Nicolas, Gaël, Richard, Anne-Claire, Guerreiro, Rita, Bras, Jose T., Zuchner, Stephan, Gonzalez, Michael A., Bu, Guojun, Younkin, Steven, Knopman, David S., Josephs, Keith A., Parisi, Joseph E., Petersen, Ronald C., Ertekin-Taner, Nilüfer, Graff-Radford, Neill R., Boeve, Bradley F., Dickson, Dennis W., Rademakers, Rosa
প্রকাশিত Neurobiol Aging (2016)