Research Output

2017

Apolipoprotein E, Receptors, and Modulation of Alzheimer's Disease

Zhao, N., Liu, C-C., Qiao, W. & Bu, G. D., Feb 1 2017, (Accepted/In press) In : Biological Psychiatry.

Research output: Contribution to journalArticle

84 Scopus citations

Apolipoprotein E4 Impairs Neuronal Insulin Signaling by Trapping Insulin Receptor in the Endosomes

Zhao, N., Liu, C-C., Van Ingelgom, A. J., Martens, Y. A., Linares, C., Knight, J. A., Painter, M. M., Sullivan, P. M. & Bu, G. D., Sep 27 2017, In : Neuron. 96, 1, p. 115-129 15 p.

Research output: Contribution to journalArticle

73 Scopus citations

Apolipoprotein e metabolism and functions in brain and its role in Alzheimer's disease

Liao, F., Yoon, H. & Kim, J., Jan 1 2017, In : Current opinion in lipidology. 28, 1, p. 60-67 8 p.

Research output: Contribution to journalReview article

41 Scopus citations

Approach to atypical Alzheimer's disease and case studies of the major subtypes

Dickerson, B. C., McGinnis, S. M., Xia, C., Price, B. H., Atri, A., Murray, M. E., Mendez, M. F. & Wolk, D. A., Dec 1 2017, In : CNS Spectrums. 22, 6, p. 439-449 11 p.

Research output: Contribution to journalArticle

14 Scopus citations

Approach to the patient with dementia

Taner, N. & Graff Radford, N. R., Jan 6 2017, Practical Neurology: Fifth Edition. Wolters Kluwer Health Pharma Solutions (Europe) Ltd, p. 35-49 15 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Association Between Vascular Pathology and Rate of Cognitive Decline Independent of Alzheimer's Disease Pathology

Ezzati, A., Wang, C., Lipton, R. B., Altschul, D., Katz, M. J., Dickson, D. W. & Derby, C. A., 2017, (Accepted/In press) In : Journal of the American Geriatrics Society.

Research output: Contribution to journalArticle

5 Scopus citations

Astrocytic LRP1 mediates brain Aβ clearance and impacts amyloid deposition

Liu, C. C., Hu, J., Zhao, N., Wang, J., Wang, N., Cirrito, J. R., Kanekiyo, T., Holtzman, D. M. & Bu, G., Apr 12 2017, In : Journal of Neuroscience. 37, 15, p. 4023-4031 9 p.

Research output: Contribution to journalArticle

52 Scopus citations

ATXN2 trinucleotide repeat length correlates with risk of ALS

Sproviero, W., Shatunov, A., Stahl, D., Shoai, M., van Rheenen, W., Jones, A. R., Al-Sarraj, S., Andersen, P. M., Bonini, N. M., Conforti, F. L., Van Damme, P., Daoud, H., Del Mar Amador, M., Fogh, I., Forzan, M., Gaastra, B., Gellera, C., Gitler, A. D., Hardy, J., Fratta, P. & 27 others, La Bella, V., Le Ber, I., Van Langenhove, T., Lattante, S., Lee, Y. C., Malaspina, A., Meininger, V., Millecamps, S., Orrell, R., Rademakers, R., Robberecht, W., Rouleau, G., Ross, O. A., Salachas, F., Sidle, K., Smith, B. N., Soong, B. W., Sorarù, G., Stevanin, G., Kabashi, E., Troakes, C., van Broeckhoven, C., Veldink, J. H., van den Berg, L. H., Shaw, C. E., Powell, J. F. & Al-Chalabi, A., Mar 1 2017, In : Neurobiology of aging. 51, p. 178.e1-178.e9

Research output: Contribution to journalArticle

26 Scopus citations

Blood-Based Oligomeric and Other Protein Variant Biomarkers to Facilitate Pre-Symptomatic Diagnosis and Staging of Alzheimer's Disease

Williams, S. M., Schulz, P., Rosenberry, T. L., Caselli, R. J. & Sierks, M. R., 2017, In : Journal of Alzheimer's Disease. 58, 1, p. 23-35 13 p.

Research output: Contribution to journalArticle

12 Scopus citations

Blood-brain barrier dysfunction and the pathogenesis of alzheimer’s disease

Yamazaki, Y. & Kanekiyo, T., Sep 13 2017, In : International journal of molecular sciences. 18, 9, 1965.

Research output: Contribution to journalReview article

65 Scopus citations

Brain calcifications and PCDH12 variants

Nicolas, G., Sanchez-Contreras, M., Ramos, E. M., Lemos, R. R., Ferreira, J., Moura, D., Sobrido, M. J., Richard, A. C., Lopez, A. R., Legati, A., Deleuze, J. F., Boland, A., Quenez, O., Krystkowiak, P., Favrole, P., Geschwind, D. H., Aran, A., Segel, R., Levy-Lahad, E., Dickson, D. W. & 3 others, Coppola, G., Rademakers, R. & De Oliveira, J. R. M., 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

Brain Perivascular Macrophages Initiate the Neurovascular Dysfunction of Alzheimer Aβ Peptides

Park, L., Uekawa, K., Garcia-Bonilla, L., Koizumi, K., Murphy, M., Pistik, R., Younkin, L., Younkin, S., Zhou, P., Carlson, G., Anrather, J. & Iadecola, C., Jul 21 2017, In : Circulation research. 121, 3, p. 258-269 12 p.

Research output: Contribution to journalArticle

48 Scopus citations

Brain tau deposition linked to systemic causes of death in normal elderly

Josephs, K. A., Tosakulwong, N., Weigand, S. D., Murray, M. E., Whitwell, J. L., Parisi, J. E., Dickson, D. W. & Petersen, R. C., Feb 1 2017, In : Neurobiology of Aging. 50, p. 163-166 4 p.

Research output: Contribution to journalArticle

2 Scopus citations

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Lee, Y. B., Baskaran, P., Gomez-Deza, J., Chen, H. J., Nishimura, A. L., Smith, B. N., Troakes, C., Adachi, Y., Stepto, A., Petrucelli, L., Gallo, J. M., Hirth, F., Rogelj, B., Guthrie, S. & Shaw, C. E., Dec 2017, In : Human molecular genetics. 26, 24, p. 4765-4777 13 p.

Research output: Contribution to journalArticle

22 Scopus citations

Capicua deficiency induces autoimmunity and promotes follicular helper T cell differentiation via derepression of ETV5

Park, S., Lee, S., Lee, C. G., Park, G. Y., Hong, H., Lee, J. S., Kim, Y. M., Lee, S. B., Hwang, D., Choi, Y. S., Fryer, J. D., Im, S. H., Lee, S. W. & Lee, Y., Jul 12 2017, In : Nature communications. 8, 16037.

Research output: Contribution to journalArticle

13 Scopus citations

Clinical/Scientific Notes: ARHGEF28 P.LYS280METFS40TER in an amyotrophic lateral sclerosis family with a C9ORF72 expansion

Farhan, S. M. K., Gendron, T. D., Petrucelli, L., Hegele, R. A. & Strong, M. J., Oct 1 2017, In : Neurology: Genetics. 3, 5, e190.

Research output: Contribution to journalArticle

2 Scopus citations

Clinical and neuropathological features of ALS/FTD with TIA1 mutations

Hirsch-Reinshagen, V., Pottier, C., Nicholson, A. M., Baker, M., Hsiung, G. Y. R., Krieger, C., Sengdy, P., Boylan, K. B., Dickson, D. W., Mesulam, M., Weintraub, S., Bigio, E., Zinman, L., Keith, J., Rogaeva, E., Zivkovic, S. A., Lacomis, D., Taylor, J. P., Rademakers, R. & Mackenzie, I. R. A., Dec 7 2017, In : Acta Neuropathologica Communications. 5, 1, 1 p.

Research output: Contribution to journalArticle

13 Scopus citations

Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria

for the Movement Disorder Society–endorsed PSP Study Group, Jun 2017, In : Movement Disorders. 32, 6, p. 853-864 12 p.

Research output: Contribution to journalArticle

384 Scopus citations
23 Scopus citations

Cognitive impairment in progressive supranuclear palsy is associated with tau burden

Koga, S., Parks, A., Kasanuki, K., Sanchez-Contreras, M., Baker, M. C., Josephs, K. A., Ahlskog, J. E., Uitti, R. J., Graff-Radford, N., van Gerpen, J. A., Wszolek, Z. K., Rademakers, R. & Dickson, D. W., Dec 2017, In : Movement Disorders. 32, 12, p. 1772-1779 8 p.

Research output: Contribution to journalArticle

11 Scopus citations

Combination of Aβ Suppression and Innate Immune Activation in the Brain Significantly Attenuates Amyloid Plaque Deposition

Verbeeck, C., Carrano, A., Chakrabarty, P., Jankowsky, J. L. & Das, P., Dec 2017, In : American Journal of Pathology. 187, 12, p. 2886-2894 9 p.

Research output: Contribution to journalArticle

6 Scopus citations

Comparison of the binding of reversible inhibitors to human butyrylcholinesterase and acetylcholinesterase: A crystallographic, kinetic and calorimetric study

Rosenberry, T. L., Brazzolotto, X., MacDonald, I. R., Wandhammer, M., Trovaslet-Leroy, M., Darvesh, S. & Nachon, F., Dec 2017, In : Molecules. 22, 12, 2098.

Research output: Contribution to journalArticle

36 Scopus citations

Comprehensive Screening for Disease Risk Variants in Early-Onset Alzheimer's Disease Genes in African Americans Identifies Novel PSEN Variants

N'Songo, A., Carrasquillo, M. M., Wang, X., Nguyen, T., Asmann, Y., Younkin, S. G., Allen, M., Duara, R., Custo, M. T. G., Graff Radford, N. R. & Taner, N., 2017, In : Journal of Alzheimer's Disease. 56, 4, p. 1215-1222 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Consensus classification of posterior cortical atrophy

on behalf of the & Alzheimer's Association ISTAART Atypical Alzheimer's Disease and Associated Syndromes Professional Interest Area, Aug 2017, In : Alzheimer's and Dementia. 13, 8, p. 870-884 15 p.

Research output: Contribution to journalArticle

115 Scopus citations

Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease

Ebbert, M. T. W., Ross, C. A., Pregent, L. J., Lank, R. J., Zhang, C., Katzman, R. B., Jansen-West, K., Song, Y., da Rocha, E. L., Palmucci, C., Desaro, P., Robertson, A. E., Caputo, A. M., Dickson, D. W., Boylan, K. B., Rademakers, R. V., Ordog, T., Li, H. & Belzil, V., Aug 14 2017, (Accepted/In press) In : Acta Neuropathologica. p. 1-14 14 p.

Research output: Contribution to journalArticle

8 Scopus citations

DCTN1-related neurodegeneration: Perry syndrome and beyond

Konno, T., Ross, O. A., Teive, H. A. G., Sławek, J., Dickson, D. W. & Wszolek, Z. K., Mar 27 2017, (Accepted/In press) In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

18 Scopus citations

DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy

Sanchez-Contreras, M., Soto, A. I., Walton, R. L., Wszolek, Z. K., Dickson, D. W., Ross, O. A. & Rademakers, R. V., 2017, (Accepted/In press) In : Parkinsonism and Related Disorders.

Research output: Contribution to journalArticle

2 Scopus citations

Dementia research - A roadmap for the next decade

Traynor, B. J. & Rademakers, R. V., Feb 1 2017, In : JAMA Neurology. 74, 2, p. 141-142 2 p.

Research output: Contribution to journalComment/debate

4 Scopus citations

Depletion of AADC activity in caudate nucleus and putamen of Parkinson's disease patients; Implications for ongoing AAV2-AADC gene therapy trial

Ciesielska, A., Samaranch, L., San Sebastian, W., Dickson, D. W., Goldman, S., Forsayeth, J. & Bankiewicz, K. S., Feb 2017, In : PloS one. 12, 2, e0169965.

Research output: Contribution to journalArticle

9 Scopus citations

Derivation and validation of the automated search algorithms to identify cognitive impairment and dementia in electronic health records

Amra, S., O'Horo, J. C., Singh, T. D., Wilson, G. A., Kashyap, R., Petersen, R. C., Roberts, R. O., Fryer, J. D., Rabinstein, A. & Gajic, O., Feb 1 2017, In : Journal of Critical Care. 37, p. 202-205 4 p.

Research output: Contribution to journalArticle

14 Scopus citations

Detection of long repeat expansions from PCR-free whole-genome sequence data

The US–Venezuela Collaborative Research Group, Nov 2017, In : Genome Research. 27, 11, p. 1895-1903 9 p.

Research output: Contribution to journalArticle

61 Scopus citations

Diagnosis and management of dementia with Lewy bodies

McKeith, I. G., Boeve, B. F., DIckson, D. W., Halliday, G., Taylor, J. P., Weintraub, D., Aarsland, D., Galvin, J., Attems, J., Ballard, C. G., Bayston, A., Beach, T. G., Blanc, F., Bohnen, N., Bonanni, L., Bras, J., Brundin, P., Burn, D., Chen-Plotkin, A., Duda, J. E. & 43 others, El-Agnaf, O., Feldman, H., Ferman, T. J., Ffytche, D., Fujishiro, H., Galasko, D., Goldman, J. G., Gomperts, S. N., Graff-Radford, N. R., Honig, L. S., Iranzo, A., Kantarci, K., Kaufer, D., Kukull, W., Lee, V. M. Y., Leverenz, J. B., Lewis, S., Lippa, C., Lunde, A., Masellis, M., Masliah, E., McLean, P., Mollenhauer, B., Montine, T. J., Moreno, E., Mori, E., Murray, M., O'Brien, J. T., Orimo, S., Postuma, R. B., Ramaswamy, S., Ross, O. A., Salmon, D. P., Singleton, A., Taylor, A., Thomas, A., Tiraboschi, P., Toledo, J. B., Trojanowski, J. Q., Tsuang, D., Walker, Z., Yamada, M. & Kosaka, K., Jul 4 2017, In : Neurology. 89, 1, p. 88-100 13 p.

Research output: Contribution to journalReview article

723 Scopus citations

Disease and Region Specificity of Granulin Immunopositivities in Alzheimer Disease and Frontotemporal Lobar Degeneration

Mao, Q., Wang, D., Li, Y., Kohler, M., Wilson, J., Parton, Z., Shmaltsuyeva, B., Gursel, D., Rademakers, R. V., Weintraub, S., Mesulam, M. M., Xia, H. & Bigio, E. H., Nov 1 2017, In : Journal of Neuropathology and Experimental Neurology. 76, 11, p. 957-968 12 p.

Research output: Contribution to journalArticle

9 Scopus citations

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Lu, H. C., Tan, Q., Rousseaux, M. W. C., Wang, W., Kim, J. Y., Richman, R., Wan, Y. W., Yeh, S. Y., Patel, J. M., Liu, X., Lin, T., Lee, Y., Fryer, J. D., Han, J., Chahrour, M., Finnell, R. H., Lei, Y., Zurita-Jimenez, M. E., Ahimaz, P., Anyane-Yeboa, K. & 17 others, Van Maldergem, L., Lehalle, D., Jean-Marcais, N., Mosca-Boidron, A. L., Thevenon, J., Cousin, M. A., Bro, D. E., Lanpher, B., Klee, E. W., Alexander, N., Bainbridge, M. N., Orr, H. T., Sillitoe, R. V., Ljungberg, M. C., Liu, Z., Schaaf, C. P. & Zoghbi, H. Y., Mar 30 2017, In : Nature Genetics. 49, 4, p. 527-536 10 p.

Research output: Contribution to journalArticle

40 Scopus citations

Distinct binding of PET ligands PBB3 and AV-1451 to tau fibril strains in neurodegenerative tauopathies

Ono, M., Sahara, N., Kumata, K., Ji, B., Ni, R., Koga, S., Dickson, D. W., Trojanowski, J. Q., Lee, V. M. Y., Yoshida, M., Hozumi, I., Yoshiyama, Y., Van Swieten, J. C., Nordberg, A., Suhara, T., Zhang, M. R. & Higuchi, M., Mar 1 2017, In : Brain. 140, 3, p. 764-780 17 p.

Research output: Contribution to journalArticle

74 Scopus citations

Distinct spatiotemporal accumulation of N-truncated and full-length amyloid-β42 in Alzheimer's disease

Shinohara, M., Koga, S., Konno, T., Nix, J., Shinohara, M., Aoki, N., Das, P., Parisi, J. E., Petersen, R. C., Rosenberry, T. L., Dickson, D. W. & Bu, G. D., Dec 1 2017, In : Brain. 140, 12, p. 3301-3316 16 p.

Research output: Contribution to journalArticle

6 Scopus citations

Duration and pathologic correlates of Lewy Body Disease

Graff-Radford, J., Aakre, J., Savica, R., Boeve, B. F., Kremers, W. K., Ferman, T. J., Jones, D. T., Kantarci, K. M., Knopman, D. S., Dickson, D. W., Kukull, W. A. & Petersen, R. C., Mar 1 2017, In : JAMA Neurology. 74, 3, p. 310-315 6 p.

Research output: Contribution to journalArticle

22 Scopus citations
50 Scopus citations

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Wang, L., Heckman, M. G., Aasly, J. O., Annesi, G., Bozi, M., Chung, S. J., Clarke, C., Crosiers, D., Eckstein, G., Garraux, G., Hadjigeorgiou, G. M., Hattori, N., Jeon, B., Kim, Y. J., Kubo, M., Lesage, S., Lin, J. J., Lynch, T., Lichtner, P., Mellick, G. D. & 21 others, Mok, V., Morrison, K. E., Quattrone, A., Satake, W., Silburn, P. A., Stefanis, L., Stockton, J. D., Tan, E. K., Toda, T., Brice, A., Van Broeckhoven, C., Uitti, R. J., Wirdefeldt, K., Wszolek, Z., Xiromerisiou, G., Maraganore, D. M., Gasser, T., Krüger, R., Farrer, M. J., Ross, O. A. & Sharma, M., Jan 1 2017, In : Neurobiology of aging. 49, p. 217.e1-217.e4

Research output: Contribution to journalArticle

1 Scopus citations

Exercise training-induced modification of the gut microbiota persists after microbiota colonization and attenuates the response to chemically-induced colitis in gnotobiotic mice

Allen, J. M., Mailing, L. J., Cohrs, J., Salmonson, C., Fryer, J. D., Nehra, V., Hale, V. L., Kashyap, P. C., White, B. A. & Woods, J. A., Sep 19 2017, (Accepted/In press) In : Gut Microbes. p. 1-16 16 p.

Research output: Contribution to journalArticle

30 Scopus citations

Fluorescence and autoradiographic evaluation of tau PET ligand PBB3 to α-synuclein pathology

Koga, S., Ono, M., Sahara, N., Higuchi, M. & Dickson, D. W., Jun 2017, In : Movement Disorders. 32, 6, p. 884-892 9 p.

Research output: Contribution to journalArticle

23 Scopus citations

Frontotemporal dementia with the V337M MAPT mutation

Spina, S., Schonhaut, D. R., Boeve, B. F., Seeley, W. W., Ossenkoppele, R., O'Neil, J. P., Lazaris, A., Rosen, H. J., Boxer, A. L., Perry, D. C., Miller, B. L., Dickson, D. W., Parisi, J. E., Jagust, W. J., Murray, M. E. & Rabinovici, G. D., Feb 21 2017, In : Neurology. 88, 8, p. 758-766 9 p.

Research output: Contribution to journalArticle

33 Scopus citations

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

The IFGC and IPDGC members, Feb 1 2017, In : Journal of Neurology, Neurosurgery and Psychiatry. 88, 2, p. 152-164 13 p.

Research output: Contribution to journalArticle

42 Scopus citations

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

Puschmann, A., Fiesel, F. C., Caulfield, T. R., Hudec, R., Ando, M., Truban, D., Hou, X., Ogaki, K., Heckman, M. G., James, E. D., Swanberg, M., Jimenez-Ferrer, I., Hansson, O., Opala, G., Siuda, J., Boczarska-Jedynak, M., Friedman, A., Koziorowski, D., Rudzińska-Bar, M., Aasly, J. O. & 13 others, Lynch, T., Mellick, G. D., Mohan, M., Silburn, P. A., Sanotsky, Y., Vilariño-Güell, C., Farrer, M. J., Chen, L., Dawson, V. L., Dawson, T. M., Wszolek, Z. K., Ross, O. A. & Springer, W., 2017, In : Brain. 140, 1, p. 98-117 20 p.

Research output: Contribution to journalArticle

57 Scopus citations

Hexokinases link DJ-1 to the PINK1/parkin pathway

Hauser, D. N., Mamais, A., Conti, M. M., Primiani, C. T., Kumaran, R., Dillman, A. A., Langston, R. G., Beilina, A., Garcia, J. H., Diaz-Ruiz, A., Bernier, M., Fiesel, F. C., Hou, X., Springer, W., Li, Y., De Cabo, R. & Cookson, M. R., Sep 29 2017, In : Molecular neurodegeneration. 12, 1, 212.

Research output: Contribution to journalArticle

14 Scopus citations

Human LRRK2 G2019S mutation represses post-synaptic protein PSD95 and causes cognitive impairment in transgenic mice

Adeosun, S. O., Hou, X., Zheng, B., Melrose, H. L., Mosley, T. & Wang, J. M., Jul 1 2017, In : Neurobiology of Learning and Memory. 142, p. 182-189 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

23andMe Research Team, DESIR study group, 23andMe Research Team, DESIR study group, DESIR study group & DESIR study group, Nov 2017, In : The Lancet Neurology. 16, 11, p. 898-907 10 p.

Research output: Contribution to journalArticle

65 Scopus citations

Identifying therapeutic targets for Alzheimer's disease with big data

Taner, N., Apr 1 2017, In : Neurodegenerative disease management. 7, 2, p. 101-105 5 p.

Research output: Contribution to journalArticle

1 Scopus citations

Impaired endo-lysosomal membrane integrity accelerates the seeding progression of α-synuclein aggregates

Jiang, P., Gan, M., Yen, S. H., McLean, P. J. & Dickson, D. W., Dec 1 2017, In : Scientific Reports. 7, 1, 7690.

Research output: Contribution to journalArticle

18 Scopus citations

Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with Rack1 on polyribosomes

Russo, A., Scardigli, R., Regina, F. L., Murray, M. E., Romano, N., Dickson, D. W., Wolozin, B., Cattaneo, A. & Ceci, M., Apr 15 2017, In : Human Molecular Genetics. 26, 8, p. 1407-1418 12 p., ddx035.

Research output: Contribution to journalArticle

19 Scopus citations