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  • 2017

    Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients

    Valdez, C., Wong, Y. C., Schwake, M., Bu, G., Wszolek, Z. K. & Krainc, D., Dec 2017, In: Human molecular genetics. 26, 24, p. 4861-4872 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    37 Scopus citations
  • Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R., Olaso, R., & 426 othersHoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Longstreth, W. T., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J. C., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Uitterlinden, A. G., Holmes, C., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Goate, A. M., Pericak-Vance, M. A., Holmans, P. A., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In: Nature Genetics. 49, 9, p. 1373-1384 12 p.

    Research output: Contribution to journalArticlepeer-review

    342 Scopus citations
  • Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy

    Mishima, T., Kasanuki, K., Koga, S., Castanedes-Casey, M., Wszolek, Z. K., Tsuboi, Y. & Dickson, D. W., Sep 2017, In: Parkinsonism and Related Disorders. 42, p. 85-89 5 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients

    Prudencio, M., Gonzales, P. K., Cook, C. N., Gendron, T. F., Daughrity, L. M., Song, Y., Ebbert, M. T. W., van Blitterswijk, M., Zhang, Y. J., Jansen-West, K., Baker, M. C., DeTure, M., Rademakers, R., Boylan, K. B., Dickson, D. W., Petrucelli, L. & Link, C. D., Sep 1 2017, In: Human molecular genetics. 26, 17, p. 3421-3431 11 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations
  • Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies

    Wile, D. J., Agarwal, P. A., Schulzer, M., Mak, E., Dinelle, K., Shahinfard, E., Vafai, N., Hasegawa, K., Zhang, J., McKenzie, J., Neilson, N., Strongosky, A., Uitti, R. J., Guttman, M., Zabetian, C. P., Ding, Y. S., Adam, M., Aasly, J., Wszolek, Z. K., Farrer, M., & 2 othersSossi, V. & Stoessl, A. J., May 2017, In: The Lancet Neurology. 16, 5, p. 351-359 9 p.

    Research output: Contribution to journalArticlepeer-review

    42 Scopus citations
  • Stereotactic Radiosurgery With or Without Whole-Brain Radiation Therapy for Limited Brain Metastases: A Secondary Analysis of the North Central Cancer Treatment Group N0574 (Alliance) Randomized Controlled Trial

    Churilla, T. M., Ballman, K. V., Brown, P. D., Twohy, E. L., Jaeckle, K., Farace, E., Cerhan, J. H., Anderson, S. K., Carrero, X. W., Garces, Y. I., Barker, F. G., Deming, R., Dixon, J. G., Burri, S. H., Chung, C., Ménard, C., Stieber, V. W., Pollock, B. E., Galanis, E., Buckner, J. C., & 1 othersAsher, A. L., Dec 1 2017, In: International Journal of Radiation Oncology Biology Physics. 99, 5, p. 1173-1178 6 p.

    Research output: Contribution to journalArticlepeer-review

    34 Scopus citations
  • Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration

    Sanchez-Contreras, M., Heckman, M. G., Tacik, P., Diehl, N., Brown, P. H., Soto-Ortolaza, A. I., Christopher, E. A., Walton, R. L., Ross, O. A., Golbe, L. I., Graff-Radford, N., Wszolek, Z. K., Dickson, D. W. & Rademakers, R., Jan 1 2017, In: Movement Disorders. 32, 1, p. 115-123 9 p.

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations
  • Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

    Taskesen, E., Mishra, A., van der Sluis, S., Ferrari, R., Veldink, J. H., van Es, M. A., Smit, A. B., Posthuma, D., Pijnenburg, Y., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., & 142 othersThompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Dec 1 2017, In: Scientific reports. 7, 1, 8899.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    15 Scopus citations
  • Systems biology approach to late-onset Alzheimer's disease genome-wide association study identifies novel candidate genes validated using brain expression data and Caenorhabditis elegans experiments

    Mukherjee, S., Russell, J. C., Carr, D. T., Burgess, J. D., Allen, M., Serie, D. J., Boehme, K. L., Kauwe, J. S. K., Naj, A. C., Fardo, D. W., Dickson, D. W., Montine, T. J., Ertekin-Taner, N., Kaeberlein, M. R. & Crane, P. K., Oct 2017, In: Alzheimer's and Dementia. 13, 10, p. 1133-1142 10 p.

    Research output: Contribution to journalArticlepeer-review

    17 Scopus citations
  • Telemedicine and the Ethics of Medical Care at a Distance

    Cheshire, W. P., 2017, In: Ethics and Medicine. 33, 2, p. 71-75 5 p.

    Research output: Contribution to journalArticlepeer-review

    3 Scopus citations
  • Thalamic DBS with a constant-current device in essential tremor: A controlled clinical trial

    for the SJM DBS ET Study Group, Jul 2017, In: Parkinsonism and Related Disorders. 40, p. 18-26 9 p.

    Research output: Contribution to journalArticlepeer-review

    33 Scopus citations
  • The autonomic medical history

    Goldstein, D. S. & Cheshire, W. P., Aug 1 2017, In: Clinical Autonomic Research. 27, 4, p. 223-233 11 p.

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations
  • The Neurologic Assessment in Neuro-Oncology (NANO) scale: A tool to assess neurologic function for integration into the Response Assessment in Neuro-Oncology (RANO) criteria

    Nayak, L., Deangelis, L. M., Brandes, A. A., Peereboom, D. M., Galanis, E., Lin, N. U., Soffietti, R., MacDonald, D. R., Chamberlain, M., Perry, J., Jaeckle, K., Mehta, M., Stupp, R., Muzikansky, A., Pentsova, E., Cloughesy, T., Iwamoto, F. M., Tonn, J. C., Vogelbaum, M. A., Wen, P. Y., & 2 othersVan Den Bent, M. J. & Reardon, D. A., May 1 2017, In: Neuro-oncology. 19, 5, p. 625-635 11 p.

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations
  • The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity

    Ando, M., Fiesel, F. C., Hudec, R., Caulfield, T. R., Ogaki, K., Górka-Skoczylas, P., Koziorowski, D., Friedman, A., Chen, L., Dawson, V. L., Dawson, T. M., Bu, G., Ross, O. A., Wszolek, Z. K. & Springer, W., Apr 24 2017, In: Molecular neurodegeneration. 12, 1, 32.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    Mackenzie, I. R., Nicholson, A. M., Sarkar, M., Messing, J., Purice, M. D., Pottier, C., Annu, K., Baker, M., Perkerson, R. B., Kurti, A., Matchett, B. J., Mittag, T., Temirov, J., Hsiung, G. Y. R., Krieger, C., Murray, M. E., Kato, M., Fryer, J. D., Petrucelli, L., Zinman, L., & 22 othersWeintraub, S., Mesulam, M., Keith, J., Zivkovic, S. A., Hirsch-Reinshagen, V., Roos, R. P., Züchner, S., Graff-Radford, N. R., Petersen, R. C., Caselli, R. J., Wszolek, Z. K., Finger, E., Lippa, C., Lacomis, D., Stewart, H., Dickson, D. W., Kim, H. J., Rogaeva, E., Bigio, E., Boylan, K. B., Taylor, J. P. & Rademakers, R., Aug 16 2017, In: Neuron. 95, 4, p. 808-816.e9

    Research output: Contribution to journalArticlepeer-review

    Open Access
    250 Scopus citations
  • Transethnic genome-wide scan identifies novel Alzheimer's disease loci

    Alzheimer’s Disease Genetics Consortium, Jul 2017, In: Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    62 Scopus citations
  • Transition from intravenous to enteral ketamine for treatment of nonconvulsive status epilepticus

    Pizzi, M. A., Kamireddi, P., Tatum, W. O., Shih, J. J., Jackson, D. A. & Freeman, W. D., Aug 8 2017, In: Journal of Intensive Care. 5, 1, 54.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    5 Scopus citations
  • Translational Stroke Research: Vision and Opportunities

    Bosetti, F., Koenig, J. I., Ayata, C., Back, S. A., Becker, K., Broderick, J. P., Carmichael, S. T., Cho, S., Cipolla, M. J., Corbett, D., Corriveau, R. A., Cramer, S. C., Ferguson, A. R., Finklestein, S. P., Ford, B. D., Furie, K. L., Hemmen, T. M., Iadecola, C., Jakeman, L. B., Janis, S., & 22 othersJauch, E. C., Johnston, K. C., Kochanek, P. M., Kohn, H., Lo, E. H., Lyden, P. D., Mallard, C., McCullough, L. D., McGavern, L. M., Meschia, J. F., Moy, C. S., Perez-Pinzon, M. A., Ramadan, I., Savitz, S. I., Schwamm, L. H., Steinberg, G. K., Stenzel-Poore, M. P., Tymianski, M., Warach, S., Wechsler, L. R., Zhang, J. H. & Koroshetz, W., Sep 1 2017, In: Stroke. 48, 9, p. 2632-2637 6 p.

    Research output: Contribution to journalArticlepeer-review

    48 Scopus citations
  • Trigeminal neuralgia following lightning injury

    Chiriboga, A. S. L. & Cheshire, W. P., 2017, In: Journal of Oral and Facial Pain and Headache. 31, 4, p. e7-e9

    Research output: Contribution to journalArticlepeer-review

    2 Scopus citations
  • Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

    Alzheimer’s Disease Genetics Consortium, Feb 1 2017, In: Alzheimer's and Dementia. 13, 2, p. 119-129 11 p.

    Research output: Contribution to journalArticlepeer-review

    32 Scopus citations
  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

    Allen, A. S., Bellows, S. T., Berkovic, S. F., Bridgers, J., Burgess, R., Cavalleri, G., Chung, S. K., Cossette, P., Delanty, N., Dlugos, D., Epstein, M. P., Freyer, C., Goldstein, D. B., Heinzen, E. L., Hildebrand, M. S., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mayeux, R., & 66 othersMebane, C., Mefford, H. C., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Pickrell, W. O., Radtke, R. A., Rees, M. I., Regan, B. M., Ren, Z., Scheffer, I. E., Sills, G. J., Thomas, R. H., Wang, Q., Abou-Khalil, B., Alldredge, B. K., Amrom, D., Andermann, E., Andermann, F., Bautista, J. F., Bluvstein, J., Boro, A., Cascino, G. D., Consalvo, D., Crumrine, P., Devinsky, O., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Motika, P. V., Novotny, E. J., Paolicchi, J. M., Parent, J. M., Park, K., Poduri, A., Sadleir, L. G., Shellhaas, R. A., Sherr, E. H., Shih, J. J., Shinnar, S., Singh, R. K., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J. L., Widdess-Walsh, P. & Winawer, M. R., Feb 1 2017, In: The Lancet Neurology. 16, 2, p. 135-143 9 p.

    Research output: Contribution to journalArticlepeer-review

    104 Scopus citations
  • Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

    Blackburn, P. R., Selcen, D., Gass, J. M., Jackson, J. L., Macklin, S., Cousin, M. A., Boczek, N. J., Klee, E. W., Dimberg, E. L., Kennelly, K. D. & Atwal, P. S., May 2017, In: Molecular Genetics and Genomic Medicine. 5, 3, p. 295-302 8 p.

    Research output: Contribution to journalArticlepeer-review

    4 Scopus citations
  • 2016

    ABCA7 loss-of-function variants, expression, and neurologic disease risk

    Allen, M., Lincoln, S. J., Corda, M., Watzlawik, J. O., Carrasquillo, M. M., Reddy, J. S., Burgess, J. D., Nguyen, T., Malphrus, K., Petersen, R. C., Graff-Radford, N. R., Dickson, D. W. & Ertekin-Taner, N., 2016, In: Neurology: Genetics. 3, 1, e126.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • A blood screening test for Alzheimer's disease

    O'Bryant, S. E., Edwards, M., Johnson, L., Hall, J., Villarreal, A. E., Britton, G. B., Quiceno, M., Cullum, C. M. & Graff-Radford, N. R., 2016, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 3, p. 83-90 8 p.

    Research output: Contribution to journalArticlepeer-review

    32 Scopus citations
  • ALS biomarkers for therapy development: State of the field and future directions

    Benatar, M., Boylan, K., Jeromin, A., Rutkove, S. B., Berry, J., Atassi, N. & Bruijn, L., Feb 1 2016, In: Muscle and Nerve. 53, 2, p. 169-182 14 p.

    Research output: Contribution to journalArticlepeer-review

    47 Scopus citations
  • ALSUntangled No. 34: GM604

    The ALSUntangled Group, Nov 16 2016, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 17, 7-8, p. 617-621 5 p.

    Research output: Contribution to journalArticlepeer-review

  • ALSUntangled No. 35: Hyperbaric Oxygen Therapy*

    The ALSUntangled Group, Nov 16 2016, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 17, 7-8, p. 622-624 3 p.

    Research output: Contribution to journalArticlepeer-review

  • Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

    Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In: PloS one. 11, 2, e0148717.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    45 Scopus citations
  • Open Access
    244 Scopus citations
  • Anesthetic type and risk of myocardial infarction after carotid endarterectomy in the Carotid Revascularization Endarterectomy versus Stenting Trial (CREST)

    Hye, R. J., Voeks, J. H., Malas, M. B., Tom, M., Longson, S., Blackshear, J. L. & Brott, T. G., Jul 1 2016, In: Journal of vascular surgery. 64, 1, p. 3-8.e1

    Research output: Contribution to journalArticlepeer-review

    30 Scopus citations
  • A novel Alzheimer disease locus located near the gene encoding tau protein

    Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L., Ikram, M. A., & 332 othersFievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., Lyketsos, C. G., Mack, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. 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E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In: Molecular Psychiatry. 21, 1, p. 108-117 10 p.

    Research output: Contribution to journalArticlepeer-review

    115 Scopus citations
  • A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

    Blackburn, P. R., Zimmermann, M. T., Gass, J. M., Harris, K. G., Cousin, M. A., Boczek, N. J., Ross, O. A., Klee, E. W., Brazis, P. W., Van Gerpen, J. A. & Atwal, P. S., Dec 5 2016, In: BMC Medical Genetics. 17, 1, 93.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    9 Scopus citations
  • Assessment of olfactory function in MAPT-associated neurodegenerative disease reveals odor-identification irreproducibility as a non-disease-specific, general characteristic of olfactory dysfunction

    Markopoulou, K., Chase, B. A., Robowski, P., Strongosky, A., Narozańska, E., Sitek, E. J., Berdynski, M., Barcikowska, M., Baker, M. C., Rademakers, R., Sławek, J., Klein, C., Hückelheim, K., Kasten, M. & Wszolek, Z. K., Nov 2016, In: PloS one. 11, 11, e0165112.

    Research output: Contribution to journalArticlepeer-review

    6 Scopus citations
  • Assessment of the genetic variance of late-onset Alzheimer's disease

    Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In: Neurobiology of aging. 41, p. 200.e13-200.e20

    Research output: Contribution to journalArticlepeer-review

    Open Access
    33 Scopus citations
  • Association between age and risk of stroke or death from carotid endarterectomy and carotid stenting: A meta-analysis of pooled patient data from four randomised trials

    Howard, G., Roubin, G. S., Jansen, O., Hendrikse, J., Halliday, A., Fraedrich, G., Eckstein, H. H., Calvet, D., Bulbulia, R., Bonati, L. H., Becquemin, J. P., Algra, A., Brown, M. M., Ringleb, P. A., Brott, T. G. & Mas, J. L., Mar 26 2016, In: The Lancet. 387, 10025, p. 1305-1311 7 p.

    Research output: Contribution to journalArticlepeer-review

    106 Scopus citations
  • Association between anticholinergic medication use and cognition, brain metabolism, and brain atrophy in cognitively normal older adults

    Alzheimer’s Disease Neuroimaging Initiative, Jun 2016, In: JAMA neurology. 73, 6, p. 721-732 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    137 Scopus citations
  • Association between dietary intake and function in amyotrophic lateral sclerosis

    Nieves, J. W., Gennings, C., Factor-Litvak, P., Hupf, J., Singleton, J., Sharf, V., Oskarsson, B., Filho, J. A. M. F., Sorenson, E. J., D'Amico, E., Goetz, R., Mitsumoto, H., Singleton, J., Beck, C. C., Merle, D., Shah, T., Kim, M. P., Lee, Y. W., Christodoulou, G., Dalton, K., & 74 othersKidd, J., Gilbert, E., Kilty, M., Heitzman, D., Rodriguez, W., Hand, S., Washington, M., Spears, B., Burson, B., Bedlack, R. S., Grace, K., Boyette, C., Katz, J. S., Miller, R. G., Forshew, D., Beemsterboer, J., Harris, W., McCoy, S., Zayas-Bazan, T., Saephanh, C., Barohn, R. J., McVey, A. L., Dimachkie, M. M., Pasnoor, M., Wang, Y., Walsh, M., Herbelin, L., Miller, J., Anderson, K., Klingerman, S., Weis, D., Joyce, N., Lim, S., Cregan, M., Kasarskis, E. J., Vanderpool, K., Taylor, D., Thomas, S., King, J., Wells, R., Lomen-Hoerth, C., Murphy, J., Duong, Y. N., Robins, D., Villerme, C., Rollins, Y. D., Ringel, S. P., Quan, D., Whitethorn, E., Mozaffar, T., Wang, A. K., Martin, V., Minton, B., Tully, P., Davis, D., Thaisetthawatkul, P., Cowardin, C., Herstein, R., Swenson, A. J., Jimmeh-Fletcher, D., Olalde, H., Sieren, J., Nations, S. P., Elliott, J., Trivedi, J., Gorham, N., Shefner, J. M., Watson, M. L., Moore, J., Markis, K., Grosso, M., Andrews, J. A., Koczon-Jaremko, A. & Bowen, J., Dec 1 2016, In: JAMA neurology. 73, 12, p. 1425-1432 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    34 Scopus citations
  • Association of GBA mutations and the E326K polymorphism with motor and cognitive progression in parkinson disease

    Davis, M. Y., Johnson, C. O., Leverenz, J. B., Weintraub, D., Trojanowski, J. Q., Chen-Plotkin, A., Van Deerlin, V. M., Quinn, J. F., Chung, K. A., Peterson-Hiller, A. L., Rosenthal, L. S., Dawson, T. M., Albert, M. S., Goldman, J. G., Stebbins, G. T., Bernard, B., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Eidelberg, D., & 10 othersMattis, P. J., Niethammer, M., Yearout, D., Hu, S. C., Cholerton, B. A., Smith, M., Mata, I. F., Montine, T. J., Edwards, K. L. & Zabetian, C. P., Oct 1 2016, In: JAMA neurology. 73, 10, p. 1217-1224 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    89 Scopus citations
  • Association of MTHFR C677T Genotype with Ischemic Stroke Is Confined to Cerebral Small Vessel Disease Subtype

    Rutten-Jacobs, L. C. A., Traylor, M., Adib-Samii, P., Thijs, V., Sudlow, C., Rothwell, P. M., Boncoraglio, G., Dichgans, M., Meschia, J., Maguire, J., Levi, C., Rost, N. S., Rosand, J., Hassan, A., Bevan, S. & Markus, H. S., Mar 1 2016, In: Stroke. 47, 3, p. 646-651 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    34 Scopus citations
  • Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

    Hassan, A., Heckman, M. G., Ahlskog, J. E., Wszolek, Z. K., Serie, D. J., Uitti, R. J., van Gerpen, J. A., Okun, M. S., Rayaprolu, S. & Ross, O. A., Jan 1 2016, In: Parkinsonism and Related Disorders. 22, p. 102-105 4 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • Association of secondhand smoke with stroke outcomes

    Lin, M. P., Ovbiagele, B., Markovic, D. & Towfighi, A., Nov 1 2016, In: Stroke. 47, 11, p. 2828-2835 8 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    16 Scopus citations
  • Autosomal dominant Parkinson's disease caused by SNCA duplications

    Konno, T., Ross, O. A., Puschmann, A., Dickson, D. W. & Wszolek, Z. K., Jan 2016, In: Parkinsonism and Related Disorders. 22, p. S1-S6

    Research output: Contribution to journalArticlepeer-review

    77 Scopus citations
  • BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease

    Lim, Y. Y., Hassenstab, J., Cruchaga, C., Goate, A., Fagan, A. M., Benzinger, T. L. S., Maruff, P., Snyder, P. J., Masters, C. L., Allegri, R., Chhatwal, J., Farlow, M. R., Graff-Radford, N. R., Laske, C., Levin, J., McDade, E., Ringman, J. M., Rossor, M., Salloway, S., Schofield, P. R., & 3 othersHoltzman, D. M., Morris, J. C. & Bateman, R. J., Oct 1 2016, In: Brain. 139, 10, p. 2766-2777 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    35 Scopus citations
  • Biomarkers in Parkinson's disease: Advances and strategies

    Delenclos, M., Jones, D. R., McLean, P. J. & Uitti, R. J., Jan 2016, In: Parkinsonism and Related Disorders. 22, p. S106-S110

    Research output: Contribution to journalArticlepeer-review

    67 Scopus citations
  • Brain-on-a-chip model enables analysis of human neuronal differentiation and chemotaxis

    Kilic, O., Pamies, D., Lavell, E., Schiapparelli, P., Feng, Y., Hartung, T., Bal-Price, A., Hogberg, H. T., Quinones-Hinojosa, A., Guerrero-Cazares, H. & Levchenko, A., 2016, In: Lab on a Chip. 16, 21, p. 4152-4162 11 p.

    Research output: Contribution to journalArticlepeer-review

    61 Scopus citations
  • C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

    Zhang, Y. J., Gendron, T. F., Grima, J. C., Sasaguri, H., Jansen-West, K., Xu, Y. F., Katzman, R. B., Gass, J., Murray, M. E., Shinohara, M., Lin, W. L., Garrett, A., Stankowski, J. N., Daughrity, L., Tong, J., Perkerson, E. A., Yue, M., Chew, J., Castanedes-Casey, M., Kurti, A., & 16 othersWang, Z. S., Liesinger, A. M., Baker, J. D., Jiang, J., Lagier-Tourenne, C., Edbauer, D., Cleveland, D. W., Rademakers, R., Boylan, K. B., Bu, G., Link, C. D., Dickey, C. A., Rothstein, J. D., Dickson, D. W., Fryer, J. D. & Petrucelli, L., May 1 2016, In: Nature Neuroscience. 19, 5, p. 668-677 10 p.

    Research output: Contribution to journalArticlepeer-review

    155 Scopus citations
  • C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells

    Esanov, R., Belle, K. C., van Blitterswijk, M., Belzil, V. V., Rademakers, R., Dickson, D. W., Petrucelli, L., Boylan, K. B., Dykxhoorn, D. M., Wuu, J., Benatar, M., Wahlestedt, C. & Zeier, Z., Mar 1 2016, In: Experimental Neurology. 277, p. 171-177 7 p.

    Research output: Contribution to journalArticlepeer-review

    14 Scopus citations
  • Cancer in Parkinson's disease

    Tacik, P., Curry, S., Fujioka, S., Strongosky, A., Uitti, R. J., van Gerpen, J. A., Diehl, N. N., Heckman, M. G. & Wszolek, Z. K., Oct 1 2016, In: Parkinsonism and Related Disorders. 31, p. 28-33 6 p.

    Research output: Contribution to journalArticlepeer-review

    21 Scopus citations
  • Candidate-gene analysis of white matter hyperintensities on neuroimaging

    Tran, T., Cotlarciuc, I., Yadav, S., Hasan, N., Bentley, P., Levi, C., Worrall, B. B., Meschia, J. F., Rost, N. & Sharma, P., Mar 2016, In: Journal of Neurology, Neurosurgery and Psychiatry. 87, 3, p. 260-266 7 p.

    Research output: Contribution to journalArticlepeer-review

    10 Scopus citations
  • Open Access
    29 Scopus citations