Research Output

2018

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

Mordes, D. A., Prudencio, M., Goodman, L. D., Klim, J. R., Moccia, R., Limone, F., Pietilainen, O., Chowdhary, K., Dickson, D. W., Rademakers, R., Bonini, N. M., Petrucelli, L. & Eggan, K., Jul 4 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Disease mechanisms of c9orf72 repeat expansions

Gendron, T. F. & Petrucelli, L., Apr 2018, In : Cold Spring Harbor Perspectives in Medicine. 8, 4, a024224.

Research output: Contribution to journalArticle

24 Scopus citations

Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy

Allen, M., Wang, X., Serie, D. J., Strickland, S. L., Burgess, J. D., Koga, S., Younkin, C. S., Nguyen, T. T., Malphrus, K. G., Lincoln, S. J., Alamprese, M., Zhu, K., Chang, R., Carrasquillo, M. M., Kouri, N., Murray, M. E., Reddy, J. S., Funk, C., Price, N. D., Golde, T. E. & 5 others, Younkin, S. G., Asmann, Y. W., Crook, J. E., Dickson, D. W. & Ertekin-Taner, N., Nov 1 2018, In : Acta neuropathologica. 136, 5, p. 709-727 19 p.

Research output: Contribution to journalArticle

10 Scopus citations

Dual functionalized liposome-mediated gene delivery across triple co-culture blood brain barrier model and specific in vivo neuronal transfection

dos Santos Rodrigues, B., Oue, H., Banerjee, A., Kanekiyo, T. & Singh, J., Sep 28 2018, In : Journal of Controlled Release. 286, p. 264-278 15 p.

Research output: Contribution to journalArticle

17 Scopus citations

Effect of BDNFVal66Met on disease markers in dominantly inherited Alzheimer's disease

on behalf of the Dominantly Inherited Alzheimer Network, Jan 1 2018, (Accepted/In press) In : Annals of Neurology.

Research output: Contribution to journalArticle

6 Scopus citations

Electroencephalogram findings in patients with posterior cortical atrophy

Goldstein, E. D., Taner, N., Stephens, A., Carrasquillo, M. M., Boeve, B. F., Tatum, W. O. & Feyissa, A., Jan 1 2018, (Accepted/In press) In : Neurologia i Neurochirurgia Polska.

Research output: Contribution to journalArticle

3 Scopus citations

Epigenome-wide DNA methylation profiling in Progressive Supranuclear Palsy reveals major changes at DLX1

Weber, A., Schwarz, S. C., Tost, J., Trümbach, D., Winter, P., Busato, F., Tacik, P., Windhorst, A. C., Fagny, M., Arzberger, T., McLean, C., van Swieten, J. C., Schwarz, J., Vogt Weisenhorn, D., Wurst, W., Adhikary, T., Dickson, D. W., Höglinger, G. U. & Müller, U., Dec 1 2018, In : Nature communications. 9, 1, 2929.

Research output: Contribution to journalArticle

6 Scopus citations

Erratum: Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies (PLoS medicine (2018) 15 1 (e1002487))

International FTD-Genomics Consortium, Jan 1 2018, In : PLoS Medicine. 15, 1, p. e1002504

Research output: Contribution to journalComment/debate

1 Scopus citations

Establishing diagnostic criteria for Perry syndrome

Mishima, T., Fujioka, S., Tomiyama, H., Yabe, I., Kurisaki, R., Fujii, N., Neshige, R., Ross, O. A., Farrer, M. J., Dickson, D. W., Wszolek, Z. K., Hattori, N. & Tsuboi, Y., May 1 2018, In : Journal of neurology, neurosurgery, and psychiatry. 89, 5, p. 482-487 6 p.

Research output: Contribution to journalArticle

Open Access
12 Scopus citations

Familial knockin mutation of LRRK2 causes lysosomal dysfunction and accumulation of endogenous insoluble α-synuclein in neurons

Schapansky, J., Khasnavis, S., DeAndrade, M. P., Nardozzi, J. D., Falkson, S. R., Boyd, J. D., Sanderson, J. B., Bartels, T., Melrose, H. L. & LaVoie, M. J., Mar 1 2018, In : Neurobiology of Disease. 111, p. 26-35 10 p.

Research output: Contribution to journalArticle

32 Scopus citations

FDG-PET in tau-negative amnestic dementia resembles that of autopsy-proven hippocampal sclerosis

Botha, H., Mantyh, W. G., Murray, M. E., Knopman, D. S., Przybelski, S. A., Wiste, H. J., Graff-Radford, J., Josephs, K. A., Schwarz, C., Kremers, W. K., Boeve, B. F., Petersen, R. C., Machulda, M. M., Parisi, J. E., Dickson, D. W., Lowe, V., Jack, C. R. J. & Jones, D. T., Apr 1 2018, In : Brain. 141, 4, p. 1201-1217 17 p.

Research output: Contribution to journalArticle

14 Scopus citations

Full sequencing and haplotype analysis of MAPT in Parkinson's disease and rapid eye movement sleep behavior disorder

Li, J., Ruskey, J. A., Arnulf, I., Dauvilliers, Y., Hu, M. T. M., Högl, B., Leblond, C. S., Zhou, S., Ambalavanan, A., Ross, J. P., Bourassa, C. V., Spiegelman, D., Laurent, S. B., Stefani, A., Charley Monaca, C., Cochen De Cock, V., Boivin, M., Ferini-Strambi, L., Plazzi, G., Antelmi, E. & 16 others, Young, P., Heidbreder, A., Labbe, C., Ferman, T. J., Dion, P. A., Fan, D., Desautels, A., Gagnon, J. F., Dupré, N., Fon, E. A., Montplaisir, J. Y., Boeve, B. F., Postuma, R. B., Rouleau, G. A., Ross, O. A. & Gan-Or, Z., Jun 2018, In : Movement Disorders. 33, 6, p. 1016-1020 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

International Genomics of Alzheimer's Project (IGAP), ARUK Consortium & GERAD/PERADES, CHARGE, ADGC, EADI, Jan 1 2018, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 595-598 4 p.

Research output: Contribution to journalArticle

Genetic fine-mapping of the Iowan SNCA gene triplication in a patient with Parkinson’s disease

Zafar, F., Valappil, R. A., Kim, S., Johansen, K. K., Chang, A. L. S., Tetrud, J. W., Eis, P. S., Hatchwell, E., Langston, J. W., Dickson, D. W. & Schüle, B., Dec 1 2018, In : npj Parkinson's Disease. 4, 1, 18.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium & Project MinE ALS Sequencing Consortium, Mar 21 2018, In : Neuron. 97, 6, p. 1268-1283.e6

Research output: Contribution to journalArticle

108 Scopus citations

Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease

Chung, J., Zhang, X., Allen, M., Wang, X., Ma, Y., Beecham, G., Montine, T. J., Younkin, S. G., Dickson, D. W., Golde, T. E., Price, N. D., Ertekin-Taner, N., Lunetta, K. L., Mez, J., Mayeux, R., Haines, J. L., Pericak-Vance, M. A., Schellenberg, G., Jun, G. R. & Farrer, L. A., Feb 20 2018, In : Alzheimer's Research and Therapy. 10, 1, 22.

Research output: Contribution to journalArticle

5 Scopus citations

Globular Glial Tauopathy May be Mistaken for Corticobasal Syndrome-Pointers for the Clinician

Marsili, L., Dickson, D. W. & Espay, A. J., Jan 1 2018, (Accepted/In press) In : Movement Disorders Clinical Practice.

Research output: Contribution to journalArticle

1 Scopus citations

Gray matter changes in asymptomatic C9orf72 and GRN mutation carriers

Popuri, K., Dowds, E., Beg, M. F., Balachandar, R., Bhalla, M., Jacova, C., Buller, A., Slack, P., Sengdy, P., Rademakers, R. V., Wittenberg, D., Feldman, H. H., Mackenzie, I. R. & Hsiung, G. Y. R., Jan 1 2018, In : NeuroImage: Clinical. 18, p. 591-598 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

Homocysteine increases tau phosphorylation, truncation and oligomerization

Shirafuji, N., Hamano, T., Yen, S. H., Kanaan, N. M., Yoshida, H., Hayashi, K., Ikawa, M., Yamamura, O., Kuriyama, M. & Nakamoto, Y., Mar 17 2018, In : International journal of molecular sciences. 19, 3, 891.

Research output: Contribution to journalArticle

14 Scopus citations

Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Miura, T., Mezaki, N., Konno, T., Iwasaki, A., Hara, N., Miura, M., Funayama, M., Unai, Y., Tashiro, Y., Okita, K., Kihara, T., Ito, N., Kanatsuka, Y., Jones, D. T., Hara, N., Ishiguro, T., Tokutake, T., Kasuga, K., Nozaki, H., Dickson, D. W. & 3 others, Onodera, O., Wszolek, Z. K. & Ikeuchi, T., Oct 1 2018, In : Journal of Neurology. 265, 10, p. 2415-2424 10 p.

Research output: Contribution to journalArticle

7 Scopus citations

Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case report

Pottier, C., Rampersaud, E., Baker, M., Wu, G., Wuu, J., McCauley, J. L., Zuchner, S., Schule, R., Bermudez, C., Hussain, S., Cooley, A., Wallace, M., Zhang, J., Taylor, J. P., Benatar, M. & Rademakers, R. V., Mar 20 2018, (Accepted/In press) In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. p. 1-3 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Identification of missing variants by combining multiple analytic pipelines

Ren, Y., Reddy, J. S., Pottier, C., Sarangi, V., Tian, S., Sinnwell, J. P., McDonnell, S. K., Biernacka, J. M., Carrasquillo, M. M., Ross, O. A., Ertekin-Taner, N., Rademakers, R., Hudson, M., Mainzer, L. S. & Asmann, Y. W., Apr 16 2018, In : BMC bioinformatics. 19, 1, 139.

Research output: Contribution to journalArticle

2 Scopus citations
18 Scopus citations

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

International FTD-Genomics Consortium, Jan 2018, In : PLoS Medicine. 15, 1, e1002487.

Research output: Contribution to journalArticle

38 Scopus citations

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

Guerreiro, R., Ross, O. A., Kun-Rodrigues, C., Hernandez, D. G., Orme, T., Eicher, J. D., Shepherd, C. E., Parkkinen, L., Darwent, L., Heckman, M. G., Scholz, S. W., Troncoso, J. C., Pletnikova, O., Ansorge, O., Clarimon, J., Lleo, A., Morenas-Rodriguez, E., Clark, L., Honig, L. S., Marder, K. & 45 others, Lemstra, A., Rogaeva, E., St George-Hyslop, P., Londos, E., Zetterberg, H., Barber, I., Braae, A., Brown, K., Morgan, K., Troakes, C., Al-Sarraj, S., Lashley, T., Holton, J., Compta, Y., Van Deerlin, V., Serrano, G. E., Beach, T. G., Lesage, S., Galasko, D., Masliah, E., Santana, I., Pastor, P., Diez-Fairen, M., Aguilar, M., Tienari, P. J., Myllykangas, L., Oinas, M., Revesz, T., Lees, A., Boeve, B. F., Petersen, R. C., Ferman, T. J., Escott-Price, V., Graff-Radford, N., Cairns, N. J., Morris, J. C., Pickering-Brown, S., Mann, D., Halliday, G. M., Hardy, J., Trojanowski, J. Q., Dickson, D. W., Singleton, A., Stone, D. J. & Bras, J., Jan 2018, In : The Lancet Neurology. 17, 1, p. 64-74 11 p.

Research output: Contribution to journalArticle

68 Scopus citations
16 Scopus citations

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

Ebbert, M. T. W., Farrugia, S. L., Sens, J. P., Jansen-West, K., Gendron, T. F., Prudencio, M., McLaughlin, I. J., Bowman, B., Seetin, M., Dejesus-Hernandez, M., Jackson, J., Brown, P. H., Dickson, D. W., Van Blitterswijk, M., Rademakers, R., Petrucelli, L. & Fryer, J. D., Aug 21 2018, In : Molecular neurodegeneration. 13, 1, 46.

Research output: Contribution to journalArticle

21 Scopus citations

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

Nicholson, A. M., Zhou, X., Perkerson, R. B., Parsons, T. M., Chew, J., Brooks, M., DeJesus-Hernandez, M., Finch, N. C. A., Matchett, B. J., Kurti, A., Jansen-West, K. R., Perkerson, E., Daughrity, L., Castanedes-Casey, M., Rousseau, L., Phillips, V., Hu, F., Gendron, T. F., Murray, M. E., Dickson, D. W. & 3 others, Fryer, J. D., Petrucelli, L. & Rademakers, R., May 31 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

LRP10 in α-synucleinopathies

International DLB Genetics Consortium, Dec 1 2018, In : The Lancet Neurology. 17, 12, p. 1032-1033 2 p.

Research output: Contribution to journalLetter

4 Scopus citations

LRP10 in α-synucleinopathies

MSA Exome Consortium, Dec 2018, In : The Lancet Neurology. 17, 12, p. 1033-1034 2 p.

Research output: Contribution to journalLetter

4 Scopus citations

LRRK2 p.Ile1371Val mutation in a case with neuropathologically confirmed multi-system atrophy

Lee, K., Nguyen, K. D., Sun, C., Liu, M., Zafar, F., Saetern, J., Flierl, A., Tetrud, J. W., Langston, J. W., Dickson, D. W. & Schule, B., Jan 1 2018, In : Journal of Parkinson's Disease. 8, 1, p. 93-100 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

Genetic and Environmental Risk in Alzheimer's Disease 1 consortium (GERAD1), Alzheimer's Disease Genetics Consortium (ADGC) & The European Alzheimer Disease Initiative Investigators (EADI1 Consortium), Dec 2018, In : Neurobiology of aging. 72, p. 188.e3-188.e12

Research output: Contribution to journalArticle

7 Scopus citations

Menin Deficiency Leads to Depressive-like Behaviors in Mice by Modulating Astrocyte-Mediated Neuroinflammation

Leng, L., Zhuang, K., Liu, Z., Huang, C., Gao, Y., Chen, G., Lin, H., Hu, Y., Wu, D., Shi, M., Xie, W., Sun, H., Shao, Z., Li, H., Zhang, K., Mo, W., Huang, T. Y., Xue, M., Yuan, Z., Zhang, X. & 4 others, Bu, G., Xu, H., Xu, Q. & Zhang, J., Nov 7 2018, In : Neuron. 100, 3, p. 551-563.e7

Research output: Contribution to journalArticle

21 Scopus citations

Microglial translational profiling reveals a convergent APOE pathway from aging, amyloid, and tau

Kang, S., Ebbert, M. T. W., Baker, K. E., Cook, C., Wang, X., Sens, J. P., Kocher, J-P., Petrucelli, L. & Fryer, J. D., Jan 1 2018, In : Journal of Experimental Medicine. 215, 9, p. 2235-2245 11 p.

Research output: Contribution to journalArticle

31 Scopus citations

Mitotic defects lead to neuronal aneuploidy and apoptosis in frontotemporal lobar degeneration caused by MAPT mutations

Caneus, J., Granic, A., Rademakers, R., Dickson, D. W., Coughlan, C. M., Chial, H. J. & Potter, H., Mar 1 2018, In : Molecular biology of the cell. 29, 5, p. 575-586 12 p.

Research output: Contribution to journalArticle

13 Scopus citations

Modeling neurodegenerative microenvironment using cortical organoids derived from human stem cells

Yan, Y., Song, L., Bejoy, J., Zhao, J., Kanekiyo, T., Bu, G. D., Zhou, Y. & Li, Y., Jul 1 2018, In : Tissue Engineering - Part A. 24, 13-14, p. 1125-1137 13 p.

Research output: Contribution to journalArticle

15 Scopus citations

Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

Bogaert, E., Boeynaems, S., Kato, M., Guo, L., Caulfield, T., Steyaert, J., Scheveneels, W., Wilmans, N., Haeck, W., Hersmus, N., Schymkowitz, J., Rousseau, F., Shorter, J., Callaerts, P., Robberecht, W., Van Damme, P. & Van Den Bosch, L., Jul 17 2018, In : Cell Reports. 24, 3, p. 529-537.e4

Research output: Contribution to journalArticle

18 Scopus citations

mRNP assembly, axonal transport, and local translation in neurodegenerative diseases

Khalil, B., Morderer, D., Price, P. L., Liu, F. & Rossoll, W., Aug 15 2018, In : Brain Research. 1693, p. 75-91 17 p.

Research output: Contribution to journalReview article

14 Scopus citations

Multiple system atrophy and apolipoprotein E

Ogaki, K., Martens, Y. A., Heckman, M. G., Koga, S., Labbé, C., Lorenzo-Betancor, O., Wernick, A. I., Walton, R. L., Soto, A. I., Vargas, E. R., Nielsen, H. M., Fujioka, S., Kanekiyo, T., Uitti, R. J., van Gerpen, J. A., Cheshire, W. P., Wszolek, Z. K., Low, P. A., Singer, W., Dickson, D. W. & 2 others, Bu, G. & Ross, O. A., Apr 2018, In : Movement Disorders. 33, 4, p. 647-650 4 p.

Research output: Contribution to journalArticle

7 Scopus citations

Neurodegenerative Diseases and RNA-Mediated Toxicity

Todd, T. W. & Petrucelli, L., Apr 4 2018, The Molecular and Cellular Basis of Neurodegenerative Diseases: Underlying Mechanisms. Elsevier Inc., p. 441-475 35 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Neuron-Specific Menin Deletion Leads to Synaptic Dysfunction and Cognitive Impairment by Modulating p35 Expression

Zhuang, K., Huang, C., Leng, L., Zheng, H., Gao, Y., Chen, G., Ji, Z., Sun, H., Hu, Y., Wu, D., Shi, M., Li, H., Zhao, Y., Zhang, Y., Xue, M., Bu, G., Huang, T. Y., Xu, H. & Zhang, J., Jul 17 2018, In : Cell reports. 24, 3, p. 701-712 12 p.

Research output: Contribution to journalArticle

5 Scopus citations

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons

McClymont, S. A., Hook, P. W., Soto, A. I., Reed, X., Law, W. D., Kerans, S. J., Waite, E. L., Briceno, N. J., Thole, J. F., Heckman, M. G., Diehl, N. N., Wszolek, Z. K., Moore, C. D., Zhu, H., Akiyama, J. A., Dickel, D. E., Visel, A., Pennacchio, L. A., Ross, O. A., Beer, M. A. & 1 others, McCallion, A. S., Dec 6 2018, In : American journal of human genetics. 103, 6, p. 874-892 19 p.

Research output: Contribution to journalArticle

3 Scopus citations

Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities

Konno, T., Miura, T., Harriott, A. M., Mezaki, N., Edwards, E. S., Rademakers, R., Ross, O. A., Meschia, J. F., Ikeuchi, T. & Wszolek, Z. K., Jun 2018, In : European Journal of Neurology. 25, 6, p. 875-881 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency

Arrant, A. E., Nicholson, A. M., Zhou, X., Rademakers, R. & Roberson, E. D., Jun 22 2018, In : Molecular neurodegeneration. 13, 1, 32.

Research output: Contribution to journalArticle

5 Scopus citations

PCNT point mutations and familial intracranial Aneurysms

Lorenzo-Betancor, O., Blackburn, P. R., Edwards, E., Vázquez-Do-campo, R., Klee, E. W., Labbé, C., Hodges, K., Glover, P., Sigafoos, A. N., Soto, A. I., Walton, R. L., Doxsey, S., Bober, M. B., Jennings, S., Clark, K. J., Asmann, Y., Miller, D., Freeman, W. D., Meschia, J. & Ross, O. A., Dec 4 2018, In : Neurology. 91, 23, p. E2170-E2181

Research output: Contribution to journalArticle

5 Scopus citations

Pericyte implantation in the brain enhances cerebral blood flow and reduces amyloid-β pathology in amyloid model mice

Tachibana, M., Yamazaki, Y., Liu, C-C., Bu, G. D. & Kanekiyo, T., Feb 1 2018, In : Experimental Neurology. 300, p. 13-21 9 p.

Research output: Contribution to journalArticle

15 Scopus citations

Personalized molecular modeling for pinpointing associations of protein dysfunction and variants associated with hereditary cancer syndromes

Macklin, S., Mohammed, A., Jackson, J., Hines, S. L., Atwal, P. S. & Caulfield, T., Jan 1 2018, (Accepted/In press) In : Molecular Genetics and Genomic Medicine.

Research output: Contribution to journalArticle

1 Scopus citations

PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions

Tsai, P. I., Lin, C. H., Hsieh, C. H., Papakyrikos, A. M., Kim, M. J., Napolioni, V., Schoor, C., Couthouis, J., Wu, R. M., Wszolek, Z. K., Winter, D., Greicius, M. D., Ross, O. A. & Wang, X., Mar 1 2018, In : Molecular Cell. 69, 5, p. 744-756.e6

Research output: Contribution to journalArticle

31 Scopus citations

Pittsburgh compound B (PiB) PET imaging of meningioma and other intracranial tumors

Johnson, D. R., Hunt, C. H., Nathan, M. A., Parisi, J. E., Boeve, B. F., Murray, M. E., Knopman, D. S., Jack, C. R., Petersen, R. C., Lowe, V. J. & Johnson, G. B., Jan 1 2018, In : Journal of neuro-oncology. 136, 2, p. 373-378 6 p.

Research output: Contribution to journalArticle

2 Scopus citations