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Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study
Cyril Pottier, Xiaolai Zhou, Ralph B Perkerson, Matt Baker, Gregory D Jenkins, Daniel J Serie , Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Adolfo López de Munain, Miren Zulaica, Fermin Moreno, Isabelle Le Ber, Florence Pasquier, Didier Hannequin, Raquel Sánchez-Valle, Anna Antonell, Albert Lladó, Tammee M Parsons, NiCole A Finch, [...] Dennis W Dickson, Joanna M Biernacka, Rosa Rademakers
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics
Ian R Mackenzie, Alexandra M Nicholson, Mohona Sarkar, James Messing, Maria D Purice, Cyril Pottier, Kavya Annu, Matt Baker, Ralph B Perkerson, Aishe Kurti, Billie J Matchett, Tanja Mittag, Jamshid Temirov, Ging-Yuek R Hsiung, Charles Krieger, Melissa E Murray, Masato Kato, John D Fryer, Leonard Petrucelli, Lorne Zinman, Sandra Weintraub, Marsel Mesulam, Julia Keith, Sasha A Zivkovic, Veronica Hirsch-Reinshagen, Raymond P Roos, Stephan Züchner, Neill R Graff-Radford, Ronald C Petersen, Richard J Caselli, Zbigniew K Wszolek, Elizabeth Finger, Carol Lippa, David Lacomis, Heather Stewart, Dennis W Dickson, Hong Joo Kim, Ekaterina Rogaeva, Eileen Bigio, Kevin B Boylan, J Paul Taylor, Rosa Rademakers
Prosaposin is a regulator of progranulin levels and oligomerization
Alexandra M Nicholson, NiCole A Finch, Marcio Almeida, Ralph B Perkerson, Marka van Blitterswijk, Aleksandra Wojtas, Basar Cenik, Sergio Rotondo, Venette Inskeep, Laura Almasy, Thomas Dyer, Juan Peralta, Goo Jun, Andrew R Wood, Timothy M Frayling, Christian Fuchsberger, Sharon Fowler, Tanya M Teslovich, Alisa K Manning, Satish Kumar, Joanne Curran, Donna Lehman, Goncalo Abecasis, Ravindranath Duggirala, Cyril Pottier, Haaris A Zahir, Julia E Crook, Anna Karydas, Laura Mitic, Ying Sun, Dennis W Dickson, Guojun Bu, Joachim Herz, Gang Yu, Bruce L Miller, Shawn Ferguson, Ronald C Petersen, Neill Graff-Radford, John Blangero, Rosa Rademakers
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
Rosa Rademakers, Matt Baker, Alexandra M Nicholson, Nicola J Rutherford, NiCole Finch, Alexandra Soto-Ortolaza, Jennifer Lash, Christian Wider, Aleksandra Wojtas, Mariely DeJesus-Hernandez, Jennifer Adamson, Naomi Kouri, Christina Sundal, Elizabeth A Shuster, Jan Aasly, James MacKenzie, Sigrun Roeber, Hans A Kretzschmar, Bradley F Boeve, David S Knopman, Ronald C Petersen, Nigel J Cairns, Bernardino Ghetti, Salvatore Spina, James Garbern, Alexandros C Tselis, Ryan Uitti, Pritam Das, Jay A Van Gerpen, James F Meschia, Shawn Levy, Daniel F Broderick, Neill Graff-Radford, Owen A Ross, Bradley B Miller, Russell H Swerdlow, Dennis W Dickson, Zbigniew K Wszolek
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson, Naomi Kouri, Aleksandra Wojtas, Pheth Sengdy, Ging-Yuek R Hsiung, Anna Karydas, William W Seeley, Keith A Josephs, Giovanni Coppola, Daniel H Geschwind, Zbigniew K Wszolek, Howard Feldman, David S Knopman, Ronald C Petersen, Bruce L Miller, Dennis W Dickson, Kevin B Boylan, Neill R Graff-Radford, Rosa Rademakers