Research Output

2019

The unresolved role of mitochondrial DNA in Parkinson's disease: An overview of published studies, their limitations, and future prospects

Müller-Nedebock, A. C., Brennan, R. R., Venter, M., Pienaar, I. S., van der Westhuizen, F. H., Elson, J. L., Ross, O. A. & Bardien, S., Oct 2019, In : Neurochemistry International. 129, 104495.

Research output: Contribution to journalReview article

2 Scopus citations

TIA1 regulates the generation and response to toxic tau oligomers

Jiang, L., Ash, P. E. A., Maziuk, B. F., Ballance, H. I., Boudeau, S., Abdullatif, A. A., Orlando, M., Petrucelli, L., Ikezu, T. & Wolozin, B., Feb 11 2019, In : Acta neuropathologica. 137, 2, p. 259-277 19 p.

Research output: Contribution to journalArticle

14 Scopus citations

Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD

Goodman, L. D., Prudencio, M., Kramer, N. J., Martinez-Ramirez, L. F., Srinivasan, A. R., Lan, M., Parisi, M. J., Zhu, Y., Chew, J., Cook, C. N., Berson, A., Gitler, A. D., Petrucelli, L. & Bonini, N. M., Jun 1 2019, In : Nature Neuroscience. 22, 6, p. 863-874 12 p.

Research output: Contribution to journalArticle

8 Scopus citations

Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers

LEFFTDS Consortium, Nov 2019, In : Neurobiology of aging. 83, p. 54-62 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD

Yuva-Aydemir, Y., Almeida, S., Krishnan, G., Gendron, T. F. & Gao, F. B., Dec 1 2019, In : Nature communications. 10, 1, 5466.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Using global team science to identify genetic parkinson's disease worldwide

MJFF Global Genetic Parkinson's Disease Study Group, Aug 2019, In : Annals of neurology. 86, 2, p. 153-157 5 p.

Research output: Contribution to journalEditorial

4 Scopus citations

X-linked lymphoproliferative syndrome presenting as adult-onset multi-infarct dementia

Blackburn, P. R., Lin, W. L., Miller, D. A., Lorenzo-Betancor, O., Edwards, E. S., Zimmermann, M. T., Farrugia, L. P., Freeman, W. D., Soto, A. I., Walton, R. L., Klee, E. W., Atwal, P. S., Abraham, R. S., Billadeau, D. D., Ross, O. A., Dickson, D. W. & Meschia, J. F., 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 5, p. 460-466 7 p.

Research output: Contribution to journalArticle

2018

[18F]AV-1451 clustering of entorhinal and cortical uptake in Alzheimer's disease

Whitwell, J. L., Graff-Radford, J., Tosakulwong, N., Weigand, S. D., Machulda, M. M., Senjem, M. L., Schwarz, C., Spychalla, A. J., Jones, D. T., Drubach, D., Knopman, D. S., Boeve, B. F., Taner, N., Petersen, R. C., Lowe, V., Jack, C. R. J. & Josephs, K. A., Feb 1 2018, In : Annals of Neurology. 83, 2, p. 248-257 10 p.

Research output: Contribution to journalArticle

23 Scopus citations

14-3-3 proteins reduce cell-to-cell transfer and propagation of pathogenic α-synuclein

Wang, B., Underwood, R., Kamath, A., Britain, C., McFerrin, M. B., McLean, P. J., Volpicelli-Daley, L. A., Whitaker, R. H., Placzek, W. J., Becker, K., Ma, J. & Yacoubian, T. A., Sep 19 2018, In : Journal of Neuroscience. 38, 38, p. 8211-8232 22 p.

Research output: Contribution to journalArticle

12 Scopus citations

ABCA7 and pathogenic pathways of Alzheimer’s disease

Aikawa, T., Holm, M. L. & Kanekiyo, T., Feb 2018, In : Brain Sciences. 8, 2, 27.

Research output: Contribution to journalReview article

21 Scopus citations

Aberrant accumulation of ErbB4 in progressive supranuclear palsy

Murakami, A., Nakamura, M., Kaneko, S., Lin, W. L., Dickson, D. W. & Kusaka, H., Oct 2018, In : Neuropathology and Applied Neurobiology. 44, 6, p. 563-573 11 p.

Research output: Contribution to journalArticle

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans 11 Medical and Health Sciences 1109 Neurosciences 06 Biological Sciences 0604 Genetics

Conway, O. J., Carrasquillo, M. M., Wang, X., Bredenberg, J. M., Reddy, J. S., Strickland, S. L., Younkin, C. S., Burgess, J. D., Allen, M., Lincoln, S. J., Nguyen, T., Malphrus, K. G., Soto, A. I., Walton, R. L., Boeve, B. F., Petersen, R. C., Lucas, J. A., Ferman, T. J., Cheshire, W. P., Van Gerpen, J. A. & 6 others, Uitti, R. J., Wszolek, Z. K., Ross, O. A., Dickson, D. W., Graff-Radford, N. R. & Ertekin-Taner, N., Oct 11 2018, In : Molecular neurodegeneration. 13, 1, 53.

Research output: Contribution to journalArticle

11 Scopus citations

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

Zhang, M., Ferrari, R., Tartaglia, M. C., Keith, J., Surace, E. I., Wolf, U., Sato, C., Grinberg, M., Liang, Y., Xi, Z., Dupont, K., McGoldrick, P., Weichert, A., McKeever, P. M., Schneider, R., McCorkindale, M. D., Manzoni, C., Rademakers, R., Graff-Radford, N. R., Dickson, D. W. & 60 others, Parisi, J. E., Boeve, B. F., Petersen, R. C., Miller, B. L., Seeley, W. W., Van Swieten, J. C., Van Rooij, J., Pijnenburg, Y., Van Der Zee, J., Van Broeckhoven, C., Le Ber, I., Van Deerlin, V., Suh, E. R., Rohrer, J. D., Mead, S., Graff, C., Öijerstedt, L., Pickering-Brown, S., Rollinson, S., Rossi, G., Tagliavini, F., Brooks, W. S., Dobson-Stone, C., Halliday, G. M., Hodges, J. R., Piguet, O., Binetti, G., Benussi, L., Ghidoni, R., Nacmias, B., Sorbi, S., Bruni, A. C., Galimberti, D., Scarpini, E., Rainero, I., Rubino, E., Clarimon, J., Lleó, A., Ruiz, A., Hernández, I., Pastor, P., Diez-Fairen, M., Borroni, B., Pasquier, F., Deramecourt, V., Lebouvier, T., Perneczky, R., Diehl-Schmid, J., Grafman, J., Huey, E. D., Mayeux, R., Nalls, M. A., Hernandez, D., Singleton, A., Momeni, P., Zeng, Z., Hardy, J., Robertson, J., Zinman, L. & Rogaeva, E., Oct 1 2018, In : Brain. 141, 10, p. 2895-2907 13 p.

Research output: Contribution to journalArticle

14 Scopus citations

Accelerated bottom-up drug design platform enables the discovery of novel stearoyl-CoA desaturase 1 inhibitors for cancer therapy

von Roemeling, C. A., Caulfield, T. R., Marlow, L., Bok, I., Wen, J., Miller, J. L., Hughes, R., Hazlehurst, L., Pinkerton, A. B., Radisky, D. C., Tun, H. W., Kim, Y. S. B., Lane, A. L. & Copland, J. A., 2018, In : Oncotarget. 9, 1, p. 3-20 18 p.

Research output: Contribution to journalArticle

7 Scopus citations

Age and age-related diseases: Role of inflammation triggers and cytokines

Rea, I. M., Gibson, D. S., McGilligan, V., McNerlan, S. E., Denis Alexander, H. & Ross, O. A., Apr 9 2018, In : Frontiers in immunology. 9, APR, 586.

Research output: Contribution to journalReview article

123 Scopus citations

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

Hou, X., Fiesel, F., Truban, D., Castanedes Casey, M., Lin, W. L., Soto, A. I., Tacik, P., Rousseau, L. G., Diehl, N. N., Heckman, M. G., Lorenzo-Betancor, O., Ferrer, I., Arbelo, J. M., Steele, J. C., Farrer, M. J., Cornejo-Olivas, M., Torres, L., Mata, I. F., Graff Radford, N. R., Wszolek, Z. K. & 4 others, Ross, O. A., Murray, M. E., Dickson, D. W. & Springer, W., Jan 1 2018, (Accepted/In press) In : Autophagy.

Research output: Contribution to journalArticle

11 Scopus citations

A matter of balance

Gitler, A. D. & Fryer, J. D., Aug 21 2018, In : eLife. 7, e40034.

Research output: Contribution to journalComment/debate

2 Scopus citations

AMPA-ergic regulation of amyloid-β levels in an Alzheimer's disease mouse model

Hettinger, J. C., Lee, H., Bu, G., Holtzman, D. M. & Cirrito, J. R., May 15 2018, In : Molecular neurodegeneration. 13, 1, 22.

Research output: Contribution to journalArticle

4 Scopus citations
17 Scopus citations

Amyloid-beta modulates microglial responses by binding to the triggering receptor expressed on myeloid cells 2 (TREM2)

Zhong, L., Wang, Z., Wang, D., Wang, Z., Martens, Y. A., Wu, L., Xu, Y., Wang, K., Li, J., Huang, R., Can, D., Xu, H., Bu, G. & Chen, X. F., Mar 27 2018, In : Molecular neurodegeneration. 13, 1, 15.

Research output: Contribution to journalArticle

30 Scopus citations

Amyotrophic Lateral Sclerosis: An Update for 2018

Oskarsson, B., Gendron, T. D. & Staff, N. P., Jan 1 2018, (Accepted/In press) In : Mayo Clinic Proceedings.

Research output: Contribution to journalArticle

45 Scopus citations

An alternative transcript of the Alzheimer's disease risk gene SORL1 encodes a truncated receptor

Blechingberg, J., Poulsen, A. S. A., Kjølby, M., Monti, G., Allen, M., Ivarsen, A. K., Lincoln, S. J., Thotakura, G., Vægter, C. B., Taner, N., Nykjær, A. & Andersen, O. M., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

2 Scopus citations

An epigenetic spin to ALS and FTD

Ebbert, M. T. W., Lank, R. J. & Belzil, V., Jan 1 2018, Advances in Neurobiology. Springer New York LLC, p. 1-29 29 p. (Advances in Neurobiology; vol. 20).

Research output: Chapter in Book/Report/Conference proceedingChapter

A novel link between trafficking and Lewy body disorders

Ross, O. A. & Bu, G. D., Jul 1 2018, In : The Lancet Neurology. 17, 7, p. 571-573 3 p.

Research output: Contribution to journalComment/debate

Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant

Konno, T., Blackburn, P. R., Rozen, T., Van Gerpen, J. A., Ross, O. A., Atwal, P. S. & Wszolek, Z. K., Jan 1 2018, (Accepted/In press) In : Neurologia i Neurochirurgia Polska.

Research output: Contribution to journalArticle

3 Scopus citations

APOE «4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

Dickson, D. W., Heckman, M. G., Murray, M. E., Soto, A. I., Walton, R. L., Diehl, N. N., Van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Ertekin-Taner, N., Knopman, D. S., Petersen, R. C., Graff-Radford, N. R., Boeve, B. F., Bu, G., Ferman, T. J. & Ross, O. A., Sep 18 2018, In : Neurology. 91, 12, p. E1182-E1195

Research output: Contribution to journalArticle

24 Scopus citations

APOE ε2 is associated with increased tau pathology in primary tauopathy

Zhao, N., Liu, C. C., Van Ingelgom, A. J., Linares, C., Kurti, A., Knight, J. A., Heckman, M. G., Diehl, N. N., Shinohara, M., Martens, Y. A., Attrebi, O. N., Petrucelli, L., Fryer, J. D., Wszolek, Z. K., Graff-Radford, N. R., Caselli, R. J., Sanchez-Contreras, M. Y., Rademakers, R., Murray, M. E., Koga, S. & 3 others, Dickson, D. W., Ross, O. A. & Bu, G., Dec 1 2018, In : Nature communications. 9, 1, 4388.

Research output: Contribution to journalArticle

22 Scopus citations

Association between microinfarcts and blood pressure trajectories

Graff-Radford, J., Raman, M. R., Rabinstein, A., Przybelski, S. A., Lesnick, T. G., Boeve, B. F., Murray, M. E., Dickson, D. W., Ross Reichard, R., Parisi, J. E., Knopman, D. S., Petersen, R. C., Jack, C. R. J. & Kantarci, K. M., Feb 1 2018, In : JAMA Neurology. 75, 2, p. 212-218 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Association of Apolipoprotein e ϵ4 with Transactive Response DNA-Binding Protein 43

Wennberg, A. M., Tosakulwong, N., Lesnick, T. G., Murray, M. E., Whitwell, J. L., Liesinger, A. M., Petrucelli, L., Boeve, B. F., Parisi, J. E., Knopman, D. S., Petersen, R. C., Dickson, D. W. & Josephs, K. A., Jan 1 2018, (Accepted/In press) In : JAMA Neurology. p. E1-E8

Research output: Contribution to journalArticle

19 Scopus citations

Association study between multiple system atrophy and TREM2 p.R47H

Ogaki, K., Heckman, M. G., Koga, S., Martens, Y. A., Labbé, C., Lorenzo-Betancor, O., Walton, R. L., Soto, A. I., Vargas, E. R., Fujioka, S., Uitti, R. J., Van Gerpen, J. A., Cheshire, W. P., Younkin, S. G., Wszolek, Z. K., Low, P. A., Singer, W., Bu, G., Dickson, D. W. & Ross, O. A., Aug 1 2018, In : Neurology: Genetics. 4, 4, e257.

Research output: Contribution to journalArticle

3 Scopus citations

Atypical parkinsonian syndromes: a general neurologist's perspective

Deutschländer, A. B., Ross, O. A., Dickson, D. W. & Wszolek, Z. K., Jan 1 2018, In : European Journal of Neurology. 25, 1, p. 41-58 18 p.

Research output: Contribution to journalReview article

12 Scopus citations

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Swinnen, B., Bento-Abreu, A., Gendron, T. F., Boeynaems, S., Bogaert, E., Nuyts, R., Timmers, M., Scheveneels, W., Hersmus, N., Wang, J., Mizielinska, S., Isaacs, A. M., Petrucelli, L., Lemmens, R., Van Damme, P., Van Den Bosch, L. & Robberecht, W., Mar 1 2018, In : Acta neuropathologica. 135, 3, p. 427-443 17 p.

Research output: Contribution to journalArticle

25 Scopus citations

Behavioral and transcriptomic analysis of Trem2-null mice: Not all knockout mice are created equal

Kang, S., Kurti, A., Baker, K. E., Liu, C-C., Colonna, M., Ulrich, J. D., Holtzman, D. M., Bu, G. D. & Fryer, J. D., Jan 15 2018, In : Human Molecular Genetics. 27, 2, p. 211-223 13 p.

Research output: Contribution to journalArticle

14 Scopus citations

Bimolecular Fluorescence Complementation of Alpha-synuclein Demonstrates its Oligomerization with Dopaminergic Phenotype in Mice

Cai, W., Feng, D., Schwarzschild, M. A., McLean, P. J. & Chen, X., Mar 1 2018, In : EBioMedicine. 29, p. 13-22 10 p.

Research output: Contribution to journalArticle

4 Scopus citations
4 Scopus citations

Combination anti-Aß treatment maximizes cognitive recovery and rebalances mTOR signaling in APP mice

Chiang, A. C. A., Fowler, S. W., Savjani, R. R., Hilsenbeck, S. G., Wallace, C. E., Cirrito, J. R., Das, P. & Jankowsky, J. L., May 1 2018, In : Journal of Experimental Medicine. 215, 5, p. 1349-1364 16 p.

Research output: Contribution to journalArticle

3 Scopus citations

Combined pathologies in FTLD-TDP types A and C

Gefen, T., Ahmadian, S. S., Mao, Q., Kim, G., Seckin, M., Bonakdarpour, B., Ramos, E. M., Coppola, G., Rademakers, R. V., Rogalski, E., Rademaker, A., Weintraub, S., Mesulam, M. M., Geula, C. & Bigio, E. H., May 1 2018, In : Journal of Neuropathology and Experimental Neurology. 77, 5, p. 405-412 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

Konno, T., Deutschländer, A., Heckman, M. G., Ossi, M., Vargas, E. R., Strongosky, A. J., van Gerpen, J. A., Uitti, R. J., Ross, O. A. & Wszolek, Z. K., Mar 15 2018, In : Journal of the neurological sciences. 386, p. 39-45 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

Compensatory Mechanisms Modulate the Neuronal Excitability in a Kainic Acid-Induced Epilepsy Mouse Model

Pan, G., Chen, Z., Zheng, H., Zhang, Y., Xu, H., Bu, G., Zheng, H. & Li, Y., Jun 29 2018, In : Frontiers in Neural Circuits. 12, 48.

Research output: Contribution to journalArticle

Conserved brain myelination networks are altered in Alzheimer's and other neurodegenerative diseases

Allen, M., Wang, X., Burgess, J. D., Watzlawik, J., Serie, D. J., Younkin, C. S., Nguyen, T., Malphrus, K. G., Lincoln, S., Carrasquillo, M. M., Ho, C., Chakrabarty, P., Strickland, S., Murray, M. E., Swarup, V., Geschwind, D. H., Seyfried, N. T., Dammer, E. B., Lah, J. J., Levey, A. I. & 11 others, Golde, T. E., Funk, C., Li, H., Price, N. D., Petersen, R. C., Graff-Radford, N. R., Younkin, S. G., Dickson, D. W., Crook, J. R., Asmann, Y. W. & Ertekin-Taner, N., Mar 2018, In : Alzheimer's and Dementia. 14, 3, p. 352-366 15 p.

Research output: Contribution to journalArticle

19 Scopus citations

Converging pathways in neurodegeneration, from genetics to mechanisms

Gan, L., Cookson, M. R., Petrucelli, L. & La Spada, A. R., Oct 1 2018, In : Nature Neuroscience. 21, 10, p. 1300-1309 10 p.

Research output: Contribution to journalReview article

51 Scopus citations

Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience

Alzheimer's Disease Neuroimaging Initiative, Jan 12 2018, In : Genome medicine. 10, 1, 4.

Research output: Contribution to journalComment/debate

1 Scopus citations

Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype

Koga, S., Kouri, N., Walton, R. L., Ebbert, M. T. W., Josephs, K. A., Litvan, I., Graff-Radford, N., Ahlskog, J. E., Uitti, R. J., van Gerpen, J. A., Boeve, B. F., Parks, A., Ross, O. A. & Dickson, D. W., Sep 1 2018, In : Acta neuropathologica. 136, 3, p. 389-404 16 p.

Research output: Contribution to journalArticle

14 Scopus citations

CRISPR expands insight into the mechanisms of ALS and FTD

Pickles, S. & Petrucelli, L., Apr 25 2018, (Accepted/In press) In : Nature Reviews Neurology. p. 1-2 2 p.

Research output: Contribution to journalArticle

1 Scopus citations

CSF1R-related leukoencephalopathy: A major player in primary microgliopathies

Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W. & Wszolek, Z. K., Dec 11 2018, In : Neurology. 91, 24, p. 1092-1104 13 p.

Research output: Contribution to journalReview article

18 Scopus citations

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

Tabet, R., Schaeffer, L., Freyermuth, F., Jambeau, M., Workman, M., Lee, C. Z., Lin, C. C., Jiang, J., Jansen-West, K., Abou-Hamdan, H., Désaubry, L., Gendron, T. D., Petrucelli, L., Martin, F. & Lagier-Tourenne, C., Dec 1 2018, In : Nature Communications. 9, 1, 152.

Research output: Contribution to journalArticle

44 Scopus citations

CXCR4 involvement in neurodegenerative diseases

International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genetics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Dec 1 2018, In : Translational psychiatry. 8, 1, 73.

Research output: Contribution to journalArticle

13 Scopus citations

Cyclin-dependent kinase 5-mediated phosphorylation of chloride intracellular channel 4 promotes oxidative stress-induced neuronal death

Guo, D., Xie, W., Xiong, P., Li, H., Wang, S., Chen, G., Gao, Y., Zhou, J., Zhang, Y., Bu, G., Xue, M. & Zhang, J., Oct 1 2018, In : Cell Death and Disease. 9, 10, 951.

Research output: Contribution to journalArticle

7 Scopus citations

Daytime sleepiness in dementia with Lewy bodies is associated with neuronal depletion of the nucleus basalis of Meynert

Kasanuki, K., Ferman, T. J., Murray, M. E., Heckman, M. G., Pedraza, O., Hanna Al-Shaikh, F. S., Mishima, T., Diehl, N. N., van Gerpen, J. A., Uitti, R. J., Wszolek, Z. K., Graff-Radford, N. R. & Dickson, D. W., May 2018, In : Parkinsonism and Related Disorders. 50, p. 99-103 5 p.

Research output: Contribution to journalArticle

9 Scopus citations

Diffuse Lewy body disease manifesting as corticobasal syndrome A rare form of Lewy body disease

Kasanuki, K., Josephs, K. A., Ferman, T. J., Murray, M. E., Koga, S., Konno, T., Sakae, N., Parks, A., Uitti, R. J., Van Gerpen, J. A., Graff-Radford, N. R., Wszolek, Z. K. & Dickson, D. W., Jul 17 2018, In : Neurology. 91, 3, p. E268-E279

Research output: Contribution to journalArticle

10 Scopus citations