Research Output

2019

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

Cali, C. P., Patino, M., Tai, Y. K., Ho, W. Y., McLean, C. A., Morris, C. M., Seeley, W. W., Miller, B. L., Gaig, C., Vonsattel, J. P. G., White, C. L., Roeber, S., Kretzschmar, H., Troncoso, J. C., Troakes, C., Gearing, M., Ghetti, B., Van Deerlin, V. M., Lee, V. M. Y., Trojanowski, J. Q. & 6 others, Mok, K. Y., Ling, H., Dickson, D. W., Schellenberg, G. D., Ling, S. C. & Lee, E. B., Nov 1 2019, In : Acta neuropathologica. 138, 5, p. 795-811 17 p.

Research output: Contribution to journalArticle

3 Scopus citations

Cellular models of alpha-synuclein toxicity and aggregation

Delenclos, M., Burgess, J. D., Lamprokostopoulou, A., Outeiro, T. F., Vekrellis, K. & McLean, P. J., Jan 1 2019, In : Journal of neurochemistry. 150, 5, p. 566-576 11 p.

Research output: Contribution to journalReview article

Open Access
7 Scopus citations

Cerebral perfusion changes in presymptomatic genetic frontotemporal dementia: A GENFI study

Mutsaerts, H. J. M. M., Mirza, S. S., Petr, J., Thomas, D. L., Cash, D. M., Bocchetta, M., De Vita, E., Metcalfe, A. W. S., Shirzadi, Z., Robertson, A. D., Tartaglia, M. C., Mitchell, S. B., Black, S. E., Freedman, M., Tang-Wai, D., Keren, R., Rogaeva, E., Van Swieten, J., Laforce, R., Tagliavini, F. & 51 others, Borroni, B., Galimberti, D., Rowe, J. B., Graff, C., Frisoni, G. B., Finger, E., Sorbi, S., De Mendonça, A., Rohrer, J. D., MacIntosh, B. J., Masellis, M., Andersson, C., Archetti, S., Arighi, A., Benussi, L., Binetti, G., Cosseddu, M., Dick, K. M., Fallström, M., Ferreira, C., Fenoglio, C., Fox, N. C., Fumagalli, G., Gazzina, S., Ghidoni, R., Grisoli, M., Jelic, V., Jiskoot, L., Lombardi, G., Maruta, C., Mead, S., Meeter, L., Van Minkelen, R., Nacmias, B., Öijerstedt, L., Ourselin, S., Padovani, A., Panman, J., Pievani, M., Polito, C., Premi, E., Prioni, S., Rademakers, R., Redaelli, V., Rossi, G., Rossor, M. N., Scarpini, E., Thonberg, H., Tiraboschi, P., Verdelho, A. & Warren, J. D., 2019, In : Brain. 142, 4, p. 1108-1120 13 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Cerebrovascular pathology presenting as corticobasal syndrome: An autopsy case series of “vascular CBS”

Koga, S., Roemer, S. F., Kasanuki, K. & Dickson, D. W., Nov 2019, In : Parkinsonism and Related Disorders. 68, p. 79-84 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis

Hirsch-Reinshagen, V., Alfaify, O. A., Hsiung, G. Y. R., Pottier, C., Baker, M., Perkerson, R. B., Rademakers, R. V., Briemberg, H., Foti, D. J. & Mackenzie, I. R., Jan 1 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.

Research output: Contribution to journalArticle

4 Scopus citations

Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome

Sakae, N., Josephs, K. A., Litvan, I., Murray, M. E., Duara, R., Uitti, R. J., Wszolek, Z. K., van Gerpen, J., Graff-Radford, N. R. & Dickson, D. W., Sep 2019, In : Alzheimer's and Dementia. 15, 9, p. 1218-1228 11 p.

Research output: Contribution to journalArticle

6 Scopus citations

CNS small vessel disease: A clinical review

Cannistraro, R. J., Badi, M., Eidelman, B. H., Dickson, D. W., Middlebrooks, E. H. & Meschia, J. F., Jun 11 2019, In : Neurology. 92, 24, p. 1146-1156 11 p.

Research output: Contribution to journalReview article

11 Scopus citations

Coexistence of Progressive Supranuclear Palsy with Pontocerebellar Atrophy and Myotonic Dystrophy Type 1

Koga, S., Eric Ahlskog, J., DeTure, M. A., Baker, M., Roemer, S. F., Konno, T., Rademakers, R., Ross, O. A. & Dickson, D. W., Jan 1 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 8, p. 756-762 7 p.

Research output: Contribution to journalArticle

Combining P301L and S320F tau variants produces a novel accelerated model of tauopathy

Koller, E. J., Gonzalez De La Cruz, E., Machula, T., Ibanez, K. R., Lin, W. L., Williams, T., Riffe, C. J., Ryu, D., Strang, K. H., Liu, X., Janus, C., Golde, T. E., Dickson, D., Giasson, B. I. & Chakrabarty, P., Oct 1 2019, In : Human molecular genetics. 28, 19, p. 3255-3269 15 p.

Research output: Contribution to journalArticle

1 Scopus citations

Correction to: ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD (Acta Neuropathologica, (2019), 138, 1, (49-65), 10.1007/s00401-019-01999-w)

Moore, S., Alsop, E., Lorenzini, I., Starr, A., Rabichow, B. E., Mendez, E., Levy, J. L., Burciu, C., Reiman, R., Chew, J., Belzil, V. V., Dickson, D., Robertson, J., Staats, K. A., Ichida, J. K., Petrucelli, L., Van Keuren-Jensen, K. & Sattler, R., Nov 1 2019, In : Acta neuropathologica. 138, 5, p. 883-884 2 p.

Research output: Contribution to journalComment/debate

Open Access
Open Access

CRISPR/Cas9 editing of APP C-terminus attenuates β-cleavage and promotes α-cleavage

Sun, J., Carlson-Stevermer, J., Das, U., Shen, M., Delenclos, M., Snead, A. M., Koo, S. Y., Wang, L., Qiao, D., Loi, J., Petersen, A. J., Stockton, M., Bhattacharyya, A., Jones, M. V., Zhao, X., McLean, P. J., Sproul, A. A., Saha, K. & Roy, S., Dec 1 2019, In : Nature Communications. 10, 1, 53.

Research output: Contribution to journalArticle

9 Scopus citations

Cross-sectional associations of tau-PET signal with cognition in cognitively unimpaired adults

Lowe, V. J., Bruinsma, T. J., Wiste, H. J., Min, H. K., Weigand, S. D., Fang, P., Senjem, M. L., Therneau, T. M., Boeve, B. F., Josephs, K. A., Pandey, M. K., Murray, M. E., Kantarci, K., Jones, D. T., Vemuri, P., Graff-Radford, J., Schwarz, C. G., Machulda, M. M., Mielke, M. M., Roberts, R. O. & 3 others, Knopman, D. S., Petersen, R. C. & Jack, C. R., Jul 2 2019, In : Neurology. 93, 1, p. E29-E39

Research output: Contribution to journalArticle

6 Scopus citations

Crosstalk of Local Translation and Mitochondria: Powering Plasticity in Axons and Dendrites

Rossol, W. & Bassell, G. J., Jan 16 2019, In : Neuron. 101, 2, p. 204-206 3 p.

Research output: Contribution to journalShort survey

3 Scopus citations

CSF1R mutation presenting as dementia with Lewy bodies

Sharma, R., Graff-Radford, J., Rademakers, R. V., Boeve, B. F., Petersen, R. C. & Jones, D. T., Jan 1 2019, In : Neurocase.

Research output: Contribution to journalArticle

2 Scopus citations
Open Access

Design and Evaluation of PEGylated Liposomal Formulation of a Novel Multikinase Inhibitor for Enhanced Chemosensitivity and Inhibition of Metastatic Pancreatic Ductal Adenocarcinoma

Madamsetty, V. S., Pal, K., Dutta, S. K., Wang, E., Thompson, J. R., Banerjee, R. K., Caulfield, T. R., Mody, K., Yen, Y., Mukhopadhyay, D. & Huang, H. S., Oct 16 2019, In : Bioconjugate Chemistry. 30, 10, p. 2703-2713 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Development and screening of brain-targeted lipid-based nanoparticles with enhanced cell penetration and gene delivery properties

Santos Rodrigues, B. D., Lakkadwala, S., Kanekiyo, T. & Singh, J., 2019, In : International journal of nanomedicine. 14, p. 6497-6517 21 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Development of multi-drug loaded PEGylated nanodiamonds to inhibit tumor growth and metastasis in genetically engineered mouse models of pancreatic cancer

Madamsetty, V. S., Pal, K., Keshavan, S., Caulfield, T. R., Dutta, S. K., Wang, E., Fadeel, B. & Mukhopadhyay, D., Dec 7 2019, In : Nanoscale. 11, 45, p. 22006-22018 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Differential Effects of Extracellular Vesicles of Lineage-Specific Human Pluripotent Stem Cells on the Cellular Behaviors of Isogenic Cortical Spheroids

Marzano, M., Bejoy, J., Cheerathodi, M. R., Sun, L., York, S. B., Zhao, J., Kanekiyo, T., Bu, G., Meckes, D. G. & Li, Y., Aug 28 2019, In : Cells. 8, 9

Research output: Contribution to journalArticle

Open Access
2 Scopus citations

Diffuse Lewy body disease and Alzheimer disease: Neuropathologic phenotype associated with the PSEN1 p.A396T mutation

Gondim, D. D., Oblak, A., Murrell, J. R., Richardson, R., Epperson, F., Ross, O. A. & Ghetti, B., 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 7, p. 585-594 10 p.

Research output: Contribution to journalArticle

2 Scopus citations

Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion

Cykowski, M. D., Dickson, D. W., Powell, S. Z., Arumanayagam, A. S., Rivera, A. L. & Appel, S. H., Oct 1 2019, In : Acta neuropathologica. 138, 4, p. 667-670 4 p.

Research output: Contribution to journalLetter

2 Scopus citations

Distinct cytokine profiles in human brains resilient to Alzheimer's pathology

Barroeta-Espar, I., Weinstock, L. D., Perez-Nievas, B. G., Meltzer, A. C., Siao Tick Chong, M., Amaral, A. C., Murray, M. E., Moulder, K. L., Morris, J. C., Cairns, N. J., Parisi, J. E., Lowe, V. J., Petersen, R. C., Kofler, J., Ikonomovic, M. D., López, O., Klunk, W. E., Mayeux, R. P., Frosch, M. P., Wood, L. B. & 1 others, Gomez-Isla, T., Jan 2019, In : Neurobiology of Disease. 121, p. 327-337 11 p.

Research output: Contribution to journalArticle

15 Scopus citations

Disulfide engineering of human Kunitz-type serine protease inhibitors enhances proteolytic stability and target affinity toward mesotrypsin

Cohen, I., Coban, M., Shahar, A., Sankaran, B., Hockla, A., Lacham, S., Caulfield, T. R., Radisky, E. S. & Papo, N., Mar 29 2019, In : Journal of Biological Chemistry. 294, 13, p. 5105-5120 16 p.

Research output: Contribution to journalArticle

6 Scopus citations

Driving genotype treatment options down the right path(way)

Ross, O. A. & Mata, I. F., Jan 1 2019, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

1 Scopus citations

Effect of age, ethnicity, sex, cognitive status and APOE genotype on amyloid load and the threshold for amyloid positivity

Duara, R., Loewenstein, D. A., Lizarraga, G., Adjouadi, M., Barker, W. W., Greig-Custo, M. T., Rosselli, M., Penate, A., Shea, Y. F., Behar, R., Ollarves, A., Robayo, C., Hanson, K., Marsiske, M., Burke, S., Taner, N., Vaillancourt, D., De Santi, S., Golde, T. & ST, D. K., Jan 1 2019, In : NeuroImage: Clinical. 22, 101800.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

EIF2AK3 variants in Dutch patients with Alzheimer's disease

Wong, T. H., van der Lee, S. J., van Rooij, J. G. J., Meeter, L. H. H., Frick, P., Melhem, S., Seelaar, H., Ikram, M. A., Rozemuller, A. J., Holstege, H., Hulsman, M., Uitterlinden, A., Neumann, M., Hoozemans, J. J. M., van Duijn, C. M., Rademakers, R. & van Swieten, J. C., Jan 2019, In : Neurobiology of aging. 73, p. 229.e11-229.e18

Research output: Contribution to journalArticle

2 Scopus citations

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

Goodman, L. D., Prudencio, M., Srinivasan, A. R., Rifai, O. M., Lee, V. M. Y., Petrucelli, L. & Bonini, N. M., Apr 25 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant

Carlomagno, Y., Chung, D. E. C., Yue, M., Kurti, A., Avendano, N. M., Castanedes-Casey, M., Hinkle, K. M., Jansen-West, K., Daughrity, L. M., Tong, J., Phillips, V., Rademakers, R., DeTure, M., Fryer, J. D., Dickson, D. W., Petrucelli, L. & Cook, C., Jan 23 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access

Erratum: Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes (Human Molecular Genetics (2017) 26:8 (1407-1418) DOI: 10.1093/hmg/ddx035)

Russo, A., Scardigli, R., La Regina, F., Murray, M. E., Romano, N., Dickson, D. W., Wolozin, B., Cattaneo, A. & Ceci, M., Apr 1 2019, In : Human molecular genetics. 28, 7, 1 p.

Research output: Contribution to journalComment/debate

Open Access

Erratum: Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease (Neuron (2018) 99(5) (925–940.e7), (S0896627318306378) (10.1016/j.neuron.2018.07.039))

Eftekharzadeh, B., Daigle, J. G., Kapinos, L. E., Coyne, A., Schiantarelli, J., Carlomagno, Y., Cook, C., Miller, S. J., Dujardin, S., Amaral, A. S., Grima, J. C., Bennett, R. E., Tepper, K., Deture, M., Vanderburg, C. R., Corjuc, B. T., DeVos, S. L., Gonzalez, J. A., Chew, J., Vidensky, S. & 10 others, Gage, F. H., Mertens, J., Troncoso, J., Mandelkow, E., Salvatella, X., Lim, R. Y. H., Petrucelli, L., Wegmann, S., Rothstein, J. D. & Hyman, B. T., Jan 16 2019, In : Neuron. 101, 2, 1 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Erratum: Correction: Lipoprotein Receptor LRP1 Regulates Leptin Signaling and Energy Homeostasis in the Adult Central Nervous System (PLoS biology (2011) 9 1 (e1000575))

Liu, Q., Zhang, J., Zerbinatti, C., Zhan, Y., Kolber, B. J., Herz, J., Muglia, L. J. & Bu, G., Jun 1 2019, In : PLoS biology. 17, 6, p. e3000310

Research output: Contribution to journalComment/debate

Open Access

Erratum: Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report. (Brain (2019) 142, (1503–1527) DOI: 10.1093/brain/awz099)

Nelson, P. T., Dickson, D. W., Trojanowski, J. Q., Jack, C. R., Boyle, P. A., Arfanakis, K., Rademakers, R., Alafuzoff, I., Attems, J., Brayne, C., Coyle-Gilchrist, I. T. S., Chui, H. C., Fardo, D. W., Flanagan, M. E., Halliday, G., Hokkanen, S. R. K., Hunter, S., Jicha, G. A., Katsumata, Y., Kawas, C. H. & 15 others, Keene, C. D., Kovacs, G. G., Kukull, W. A., Levey, A. I., Makkinejad, N., Montine, T. J., Murayama, S., Murray, M. E., Nag, S., Rissman, R. A., Seeley, W. W., Sperling, R. A., White, C. L., Yu, L. & Schneider, J. A., Jul 2019, In : Brain. 142, 7, e37.

Research output: Contribution to journalComment/debate

Open Access

Ethnoracial differences in Alzheimer's disease from the FLorida Autopsied Multi-Ethnic (FLAME)cohort

Santos, O. A., Pedraza, O., Lucas, J. A., Duara, R., Greig-Custo, M. T., Hanna Al-Shaikh, F. S., Liesinger, A. M., Bieniek, K. F., Hinkle, K. M., Lesser, E. R., Crook, J. E., Carrasquillo, M. M., Ross, O. A., Ertekin-Taner, N., Graff-Radford, N. R., Dickson, D. W. & Murray, M. E., May 2019, In : Alzheimer's and Dementia. 15, 5, p. 635-643 9 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
2 Scopus citations

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

ALSGENS Consortium, FALS Consortium, Project MinE Consortium & CReATe Consortium, Dec 1 2019, In : Nature Neuroscience. 22, 12, p. 1966-1974 9 p.

Research output: Contribution to journalArticle

9 Scopus citations

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

Dickson, D. W., Baker, M. C., Jackson, J. L., Dejesus-Hernandez, M., Finch, N. C. A., Tian, S., Heckman, M. G., Pottier, C., Gendron, T. F., Murray, M. E., Ren, Y., Reddy, J. S., Graff-Radford, N. R., Boeve, B. F., Petersen, R. C., Knopman, D. S., Josephs, K. A., Petrucelli, L., Oskarsson, B., Sheppard, J. W. & 3 others, Asmann, Y. W., Rademakers, R. & Van Blitterswijk, M., Oct 8 2019, In : Acta Neuropathologica Communications. 7, 1, 150.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Frontal lobe 1H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers

Chen, Q., Boeve, B. F., Tosakulwong, N., Lesnick, T., Brushaber, D., Dheel, C., Fields, J. A., Forsberg, L., Gavrilova, R. M., Gearhart, D., Haley, D., Gunter, J. L., Graff-Radford, J., Jones, D. T., Knopman, D. S., Graff Radford, N. R., Kraft, R., Lapid, M. I., Rademakers, R. V., Syrjanen, J. & 4 others, Wszolek, Z. K., Rosen, H., Boxer, A. L. & Kantarci, K. M., Jan 1 2019, In : Neurology. 93, 8, p. E758-E765

Research output: Contribution to journalArticle

3 Scopus citations

FTLD-TDP with and without GRN mutations cause different patterns of CA1 pathology

Mao, Q., Zheng, X., Gefen, T., Rogalski, E., Spencer, C. L., Rademakers, R., Fought, A. J., Kohler, M., Weintraub, S., Xia, H., Mesulam, M. M. & Bigio, E. H., Sep 1 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 9, p. 844-853 10 p.

Research output: Contribution to journalArticle

Functionalized liposomal nanoparticles for efficient gene delivery system to neuronal cell transfection

dos Santos Rodrigues, B., Banerjee, A., Kanekiyo, T. & Singh, J., Jul 20 2019, In : International Journal of Pharmaceutics. 566, p. 717-730 14 p.

Research output: Contribution to journalArticle

8 Scopus citations

Functional network resilience to pathology in presymptomatic genetic frontotemporal dementia

The Genetic Frontotemporal Dementia Initiative (GENFI), May 2019, In : Neurobiology of aging. 77, p. 169-177 9 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

Cook, C. & Petrucelli, L., Mar 20 2019, In : Neuron. 101, 6, p. 1057-1069 13 p.

Research output: Contribution to journalReview article

20 Scopus citations

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), & Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Mar 1 2019, In : Nature Genetics. 51, 3, p. 414-430 17 p.

Research output: Contribution to journalArticle

174 Scopus citations

Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia

International FTD-Genomics Consortium (IFGC), Dec 1 2019, In : Scientific reports. 9, 1, 10854.

Research output: Contribution to journalArticle

Open Access

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

Pottier, C., Ren, Y., Perkerson, R. B., Baker, M., Jenkins, G. D., van Blitterswijk, M., DeJesus-Hernandez, M., van Rooij, J. G. J., Murray, M. E., Christopher, E., McDonnell, S. K., Fogarty, Z., Batzler, A., Tian, S., Vicente, C. T., Matchett, B., Karydas, A. M., Hsiung, G. Y. R., Seelaar, H., Mol, M. O. & 85 others, Finger, E. C., Graff, C., Öijerstedt, L., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Prudlo, J., Rizzu, P., Simon-Sanchez, J., Edbauer, D., Roeber, S., Diehl-Schmid, J., Evers, B. M., King, A., Mesulam, M. M., Weintraub, S., Geula, C., Bieniek, K. F., Petrucelli, L., Ahern, G. L., Reiman, E. M., Woodruff, B. K., Caselli, R. J., Huey, E. D., Farlow, M. R., Grafman, J., Mead, S., Grinberg, L. T., Spina, S., Grossman, M., Irwin, D. J., Lee, E. B., Suh, E. R., Snowden, J., Mann, D., Ertekin-Taner, N., Uitti, R. J., Wszolek, Z. K., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Hodges, J. R., Piguet, O., Geier, E. G., Yokoyama, J. S., Rissman, R. A., Rogaeva, E., Keith, J., Zinman, L., Tartaglia, M. C., Cairns, N. J., Cruchaga, C., Ghetti, B., Kofler, J., Lopez, O. L., Beach, T. G., Arzberger, T., Herms, J., Honig, L. S., Vonsattel, J. P., Halliday, G. M., Kwok, J. B., White, C. L., Gearing, M., Glass, J., Rollinson, S., Pickering-Brown, S., Rohrer, J. D., Trojanowski, J. Q., Van Deerlin, V., Bigio, E. H., Troakes, C., Al-Sarraj, S., Asmann, Y., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Seeley, W. W., Mackenzie, I. R. A., van Swieten, J. C., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 1 2019, In : Acta neuropathologica. 137, 6, p. 879-899 21 p.

Research output: Contribution to journalArticle

13 Scopus citations

Genomic observations of a rare/pathogenic SMAD3 variant in Loeys–Dietz syndrome 3 confirmed by protein informatics and structural investigations

Richter, J. E., Samreen, A., Vadlamudi, C., Helmi, H., Mohammad, A. N., Wierenga, K., Hines, S., Atwal, P. S. & Caulfield, T. R., May 2019, In : Medicina (Lithuania). 55, 5, 137.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder

Jiang, A. A., Longardner, K., Dickson, D. & Sell, R., 2019, In : BMJ case reports. 12, 8, e229729.

Research output: Contribution to journalArticle

Gyrification abnormalities in presymptomatic c9orf72 expansion carriers

Caverzasi, E., Battistella, G., Chu, S. A., Rosen, H., Zanto, T. P., Karydas, A., Shwe, W., Coppola, G., Geschwind, D. H., Rademakers, R., Miller, B. L., Gorno-Tempini, M. L. & Lee, S. E., Sep 1 2019, In : Journal of Neurology, Neurosurgery and Psychiatry. 90, 9, p. 1005-1010 6 p.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Heritability and genetic variance of dementia with Lewy bodies

for the International Parkinson's Disease Genomics Consortium, Jul 2019, In : Neurobiology of Disease. 127, p. 492-501 10 p.

Research output: Contribution to journalArticle

9 Scopus citations