Research Output

2018

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers

Meeter, L. H. H., Gendron, T. F., Sias, A. C., Jiskoot, L. C., Russo, S. P., Donker Kaat, L., Papma, J. M., Panman, J. L., van der Ende, E. L., Dopper, E. G., Franzen, S., Graff, C., Boxer, A. L., Rosen, H. J., Sanchez-Valle, R., Galimberti, D., Pijnenburg, Y. A. L., Benussi, L., Ghidoni, R., Borroni, B. & 21 others, Laforce, R., del Campo, M., Teunissen, C. E., van Minkelen, R., Rojas, J. C., Coppola, G., Geschwind, D. H., Rademakers, R., Karydas, A. M., Öijerstedt, L., Scarpini, E., Binetti, G., Padovani, A., Cash, D. M., Dick, K. M., Bocchetta, M., Miller, B. L., Rohrer, J. D., Petrucelli, L., van Swieten, J. C. & Lee, S. E., May 2018, In : Annals of Clinical and Translational Neurology. 5, 5, p. 583-597 15 p.

Research output: Contribution to journalArticle

15 Scopus citations

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

Zhang, Y. J., Gendron, T. F., Ebbert, M. T. W., O’Raw, A. D., Yue, M., Jansen-West, K., Zhang, X., Prudencio, M., Chew, J., Cook, C. N., Daughrity, L. M., Tong, J., Song, Y., Pickles, S. R., Castanedes-Casey, M., Kurti, A., Rademakers, R., Oskarsson, B., Dickson, D. W., Hu, W. & 3 others, Gitler, A. D., Fryer, J. D. & Petrucelli, L., Aug 1 2018, In : Nature Medicine. 24, 8, p. 1136-1142 7 p.

Research output: Contribution to journalArticle

59 Scopus citations
Open Access
23 Scopus citations

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M., Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In : The Lancet Neurology. 17, 6, p. 548-558 11 p.

Research output: Contribution to journalArticle

25 Scopus citations

Potentially Modifiable Risk Factors for Long-Term Cognitive Impairment After Critical Illness: A Systematic Review

Sakusic, A., O'Horo, J. C., Dziadzko, M., Volha, D., Ali, R., Singh, T. D., Kashyap, R., Farrell, A. M., Fryer, J. D., Petersen, R. C., Gajic, O. & Rabinstein, A., Jan 1 2018, In : Mayo Clinic Proceedings. 93, 1, p. 68-82 15 p.

Research output: Contribution to journalReview article

22 Scopus citations

Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II

Richter, J. E., Zimmermann, M. T., Blackburn, P. R., Mohammad, A. N., Klee, E. W., Pollard, L. M., Macmurdo, C. F., Atwal, P. S. & Caulfield, T. R., Nov 2018, In : Molecular Genetics and Genomic Medicine. 6, 6, p. 1229-1235 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Protein molecular modeling shows residue T599 is critical to wild-type function of POLG and description of a novel variant associated with the SANDO phenotype

Richter, J. E., Robles, H. G., Mauricio, E., Mohammad, A., Atwal, P. S. & Caulfield, T. R., Apr 5 2018, In : Human Genome Variation. 5, 18016.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

Caulfield, T. R., Richter, J. E., Brown, E. E., Mohammad, A. N., Judge, D. P. & Atwal, P. S., Jul 2018, In : Molecular Genetics and Genomic Medicine. 6, 4, p. 666-672 7 p.

Research output: Contribution to journalArticle

5 Scopus citations

Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice

Pellegrini, L., Hauser, D. N., Li, Y., Mamais, A., Beilina, A., Kumaran, R., Wetzel, A., Nixon-Abell, J., Heaton, G., Rudenko, I., Alkaslasi, M., Ivanina, N., Melrose, H. L., Cookson, M. R. & Harvey, K., Jan 1 2018, In : Human Molecular Genetics. 27, 18, p. 3257-3271 15 p.

Research output: Contribution to journalArticle

16 Scopus citations

Recent advances in neuropathology, biomarkers and therapeutic approach of multiple system atrophy

Koga, S. & Dickson, D. W., Feb 1 2018, In : Journal of Neurology, Neurosurgery and Psychiatry. 89, 2, p. 175-184 10 p.

Research output: Contribution to journalReview article

25 Scopus citations

Regenerative Medicine in the State of Florida: Letter Outlining the Florida Organization for Regenerative Medicine

Bruce, C. J., Bu, G., Centanni, J. M., Davis, M. D., Dobson, J., Hare, J. M., Fields, G. B., Jove, R., Kenyon, N., Khan, A., March, K., Matosevic, S., Mahmood, A., Pepine, C. J., Ricordi, C., Shapiro, S. A., Zylberberg, C. & Zylberberg, E., Jul 1 2018, In : Stem Cells Translational Medicine. 7, 7, p. 511-512 2 p.

Research output: Contribution to journalLetter

Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs

Kasanuki, K., Ross, O. A., Deture, M., Walton, R. L., Sanchez-Contreras, M., Koga, S., Murray, M. E., Rademakers, R. V. & Dickson, D. W., Jan 1 2018, (Accepted/In press) In : Movement Disorders.

Research output: Contribution to journalArticle

Repeat expansions in myoclonic epilepsy

Van Blitterswijk, M. & Rademakers, R. V., Apr 1 2018, In : Nature Genetics. 50, 4, p. 477-478 2 p.

Research output: Contribution to journalShort survey

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

Sanchez-Contreras, M. Y., Kouri, N., Cook, C. N., Serie, D. J., Heckman, M. G., Finch, N. A., Caselli, R. J., Uitti, R. J., Wszolek, Z. K., Graff-Radford, N., Petrucelli, L., Wang, L. S., Schellenberg, G. D., Dickson, D. W., Rademakers, R. & Ross, O. A., Jul 9 2018, In : Molecular neurodegeneration. 13, 1, 37.

Research output: Contribution to journalArticle

8 Scopus citations

Risk Factors for Persistent Cognitive Impairment After Critical Illness, Nested Case-Control Study

Sakusic, A., Gajic, O., Singh, T. D., O'Horo, J. C., Jenkins, G., Wilson, G. A., Petersen, R. C., Fryer, J. D., Kashyap, R. & Rabinstein, A., Dec 1 2018, In : Critical Care Medicine. 46, 12, p. 1977-1984 8 p.

Research output: Contribution to journalArticle

9 Scopus citations

RNP assembly defects in spinal muscular atrophy

Price, P. L., Morderer, D. & Rossol, W., Jan 1 2018, Advances in Neurobiology. Springer New York LLC, p. 143-171 29 p. (Advances in Neurobiology; vol. 20).

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Selective genetic overlap between amyotrophic lateral sclerosis and diseases of the frontotemporal dementia spectrum

International Frontotemporal Dementia (FTD)-Genomics Consortium, International Collaboration, Frontotemporal Dementia, Progressive Supranuclear Palsy (PSP) Genetics Consortium & International Parkinson's Disease Genomics Consortium, Jul 2018, In : JAMA neurology. 75, 7, p. 860-875 16 p.

Research output: Contribution to journalArticle

21 Scopus citations

Sex and age interact to determine clinicopathologic differences in Alzheimer’s disease

Liesinger, A. M., Graff-Radford, N. R., Duara, R., Carter, R. E., Hanna Al-Shaikh, F. S., Koga, S., Hinkle, K. M., DiLello, S. K., Johnson, M. K. F., Aziz, A., Ertekin-Taner, N., Ross, O. A., Dickson, D. W. & Murray, M. E., Dec 1 2018, In : Acta neuropathologica. 136, 6, p. 873-885 13 p.

Research output: Contribution to journalArticle

17 Scopus citations

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In : JAMA neurology. 75, 8, p. 989-998 10 p.

Research output: Contribution to journalArticle

42 Scopus citations

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (Adgc), Dec 1 2018, In : Acta neuropathologica. 136, 6, p. 857-872 16 p.

Research output: Contribution to journalArticle

19 Scopus citations

Slowly progressive dementia caused by MAPT R406W mutations: Longitudinal report on a new kindred and systematic review

Ygland, E., Van Westen, D., Englund, E., Rademakers, R., Wszolek, Z. K., Nilsson, K., Nilsson, C., Landqvist Waldö, M., Alafuzoff, I., Hansson, O., Gustafson, L. & Puschmann, A., Jan 9 2018, In : Alzheimer's Research and Therapy. 10, 1, 2.

Research output: Contribution to journalReview article

5 Scopus citations

Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants

Razquin, C., Ortega-Cubero, S., Rojo-Bustamante, E., Diez-Fairen, M., Lorenzo, E., Alonso, E., Ezquerra, M., Ross, O. A., Carcel, M., Lorenzo-Betancor, O., Soto, A. I., Burgess, J. D., Taner, N., Dickson, D. W., Pastor, M. A., Tolosa, E. & Pastor, P., Jan 1 2018, (Accepted/In press) In : Neurobiology of Aging.

Research output: Contribution to journalArticle

Tau mutations as a novel risk factor for cancer—letter

the LEFFTDS Consortium, Nov 15 2018, In : Cancer Research. 78, 22, p. 6523-6524 2 p.

Research output: Contribution to journalLetter

1 Scopus citations

Tau-negative amnestic dementia masquerading as Alzheimer disease dementia

Botha, H., Mantyh, W. G., Graff-Radford, J., Machulda, M. M., Przybelski, S. A., Wiste, H. J., Senjem, M. L., Parisi, J. E., Petersen, R. C., Murray, M. E., Boeve, B. F., Lowe, V., Knopman, D. S., Jack, C. R. J. & Jones, D. T., Mar 13 2018, In : Neurology. 90, 11, p. e940-e946

Research output: Contribution to journalArticle

6 Scopus citations

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer's Disease

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., Vanderburgh, 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., Sep 5 2018, In : Neuron. 99, 5, p. 925-940.e7

Research output: Contribution to journalArticle

64 Scopus citations

TDP-43 and Alzheimer's Disease Pathologic Subtype in Non-Amnestic Alzheimer's Disease Dementia

Sahoo, A., Bejanin, A., Murray, M. E., Tosakulwong, N., Weigand, S. D., Serie, A. M., Senjem, M. L., MacHulda, M. M., Parisi, J. E., Boeve, B. F., Knopman, D. S., Petersen, R. C., Dickson, D. W., Whitwell, J. L. & Josephs, K. A., Jan 1 2018, In : Journal of Alzheimer's Disease. 64, 4, p. 1227-1233 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

Chou, C. C., Zhang, Y., Umoh, M. E., Vaughan, S. W., Lorenzini, I., Liu, F., Sayegh, M., Donlin-Asp, P. G., Chen, Y. H., Duong, D. M., Seyfried, N. T., Powers, M. A., Kukar, T., Hales, C. M., Gearing, M., Cairns, N. J., Boylan, K. B., Dickson, D. W., Rademakers, R., Zhang, Y. J. & 5 others, Petrucelli, L., Sattler, R., Zarnescu, D. C., Glass, J. D. & Rossoll, W., Feb 1 2018, In : Nature Neuroscience. 21, 2, p. 228-239 12 p.

Research output: Contribution to journalArticle

101 Scopus citations

TDP-43 pathology in multiple system atrophy: Colocalization of TDP-43 and α-synuclein in glial cytoplasmic inclusions

Koga, S., Lin, W. L., Walton, R. L., Ross, O. A. & Dickson, D. W., Jan 1 2018, (Accepted/In press) In : Neuropathology and Applied Neurobiology.

Research output: Contribution to journalArticle

7 Scopus citations

The Caenorhabditis elegans Ortholog of TDP-43 Regulates the Chromatin Localization of the Heterochromatin Protein 1 Homolog HPL-2

Saldi, T. K., Gonzales, P., Garrido-Lecca, A., Dostal, V., Roberts, C. M., Petrucelli, L. & Link, C. D., Aug 1 2018, In : Molecular and cellular biology. 38, 15

Research output: Contribution to journalArticle

3 Scopus citations
12 Scopus citations

The National Institute on Aging and the Alzheimer's Association Research Framework for Alzheimer's disease: Perspectives from the Research Roundtable

Knopman, D. S., Haeberlein, S. B., Carrillo, M. C., Hendrix, J. A., Kerchner, G., Margolin, R., Maruff, P., Miller, D. S., Tong, G., Tome, M. B., Murray, M. E., Nelson, P. T., Sano, M., Mattsson, N., Sultzer, D. L., Montine, T. J., Jack, C. R., Kolb, H., Petersen, R. C., Vemuri, P. & 8 others, Canniere, M. Z., Schneider, J. A., Resnick, S. M., Romano, G., van Harten, A. C., Wolk, D. A., Bain, L. J. & Siemers, E., Apr 2018, In : Alzheimer's and Dementia. 14, 4, p. 563-575 13 p.

Research output: Contribution to journalShort survey

33 Scopus citations

The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer's disease

Dominantly Inherited Alzheimer Network (DIAN), Nov 26 2018, In : Acta Neuropathologica Communications. 6, 1, 1 p.

Research output: Contribution to journalArticle

7 Scopus citations

Three VCP Mutations in Patients with Frontotemporal Dementia

Wong, T. H., Pottier, C., Hondius, D. C., Meeter, L. H. H., Van Rooij, J. G. J., Melhem, S., Van Minkelen, R., Van Duijn, C. M., Rozemuller, A. J. M., Seelaar, H., Rademakers, R. V. & Van Swieten, J. C., Jan 1 2018, In : Journal of Alzheimer's Disease. 65, 4, p. 1139-1146 8 p.

Research output: Contribution to journalArticle

2 Scopus citations

TLR5 decoy receptor as a novel anti-amyloid therapeutic for Alzheimer's disease

Chakrabarty, P., Li, A., Ladd, T. B., Strickland, M. R., Koller, E. J., Burgess, J. D., Funk, C. C., Cruz, P. E., Allen, M., Yaroshenko, M., Wang, X., Younkin, C., Reddy, J., Lohrer, B., Mehrke, L., Moore, B. D., Liu, X., Ceballos‑Diaz, C., Rosario, A. M., Medway, C. & 8 others, Janus, C., Li, H. D., Dickson, D. W., Giasson, B. I., Price, N. D., Younkin, S. G., Taner, N. & Golde, T. E., Jan 1 2018, In : Journal of Experimental Medicine. 215, 9, p. 2247-2264 18 p.

Research output: Contribution to journalArticle

10 Scopus citations

TMEM106B haplotypes have distinct gene expression patterns in aged brain

Ren, Y., Van Blitterswijk, M., Allen, M., Carrasquillo, M. M., Reddy, J. S., Wang, X., Beach, T. G., Dickson, D. W., Ertekin-Taner, N., Asmann, Y. W. & Rademakers, R., Jul 3 2018, In : Molecular neurodegeneration. 13, 1, 35.

Research output: Contribution to journalArticle

5 Scopus citations

TREM2 Is a Receptor for β-Amyloid that Mediates Microglial Function

Zhao, Y., Wu, X., Li, X., Jiang, L. L., Gui, X., Liu, Y., Sun, Y., Zhu, B., Piña-Crespo, J. C., Zhang, M., Zhang, N., Chen, X., Bu, G., An, Z., Huang, T. Y. & Xu, H., Mar 7 2018, In : Neuron. 97, 5, p. 1023-1031.e7

Research output: Contribution to journalArticle

109 Scopus citations

TRIO gene segregation in a family with cerebellar ataxia

Hanna Al Shaikh, R., Caulfield, T., Strongosky, A. J., Matthew, M., Jansen-West, K. R., Prudencio, M., Fryer, J. D., Petrucelli, L., Uitti, R. J. & Wszolek, Z. K., Nov 1 2018, In : Neurologia i neurochirurgia polska. 52, 6, p. 743-749 7 p.

Research output: Contribution to journalArticle

Unaffected mosaic C9orf72 case: RNA foci, dipeptide proteins, but upregulated C9orf72 expression

McGoldrick, P., Zhang, M., van Blitterswijk, M., Sato, C., Moreno, D., Xiao, S., Zhang, A. B., McKeever, P. M., Weichert, A., Schneider, R., Keith, J., Petrucelli, L., Rademakers, R., Zinman, L., Robertson, J. & Rogaeva, E., Jan 23 2018, In : Neurology. 90, 4, p. e323-e331

Research output: Contribution to journalArticle

Open Access
17 Scopus citations

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The Genetic FTD Initiative (GENFI) & The Alzheimer’S Disease Neuroimaging Initiative (ADNI), Dec 1 2018, In : Nature communications. 9, 1, 4273.

Research output: Contribution to journalArticle

28 Scopus citations
60 Scopus citations

“Minimal change” multiple system atrophy with limbic-predominant α-synuclein pathology

Koga, S. & Dickson, D. W., Jan 1 2018, (Accepted/In press) In : Acta Neuropathologica.

Research output: Contribution to journalArticle

2 Scopus citations
2017

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Finch, N. A., Wang, X., Baker, M. C., Heckman, M. G., Gendron, T. F., Bieniek, K. F., Wuu, J., Dejesus-Hernandez, M., Brown, P. H., Chew, J., Jansen-West, K. R., Daughrity, L. M., Nicholson, A. M., Murray, M. E., Josephs, K. A., Parisi, J. E., Knopman, D. S., Petersen, R. C., Petrucelli, L., Boeve, B. F. & 8 others, Graff-Radford, N. R., Asmann, Y. W., Dickson, D. W., Benatar, M., Bowser, R., Boylan, K. B., Rademakers, R. & Van Blitterswijk, M., Jan 1 2017, In : Neurology: Genetics. 3, 4

Research output: Contribution to journalArticle

6 Scopus citations

A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD

Esanov, R., Cabrera, G. T., Andrade, N. S., Gendron, T. F., Brown, R. H., Benatar, M., Wahlestedt, C., Mueller, C. & Zeier, Z., Jun 12 2017, In : Molecular neurodegeneration. 12, 1, 46.

Research output: Contribution to journalArticle

8 Scopus citations

A candidate regulatory variant at the TREM gene cluster associates with decreased Alzheimer's disease risk and increased TREML1 and TREM2 brain gene expression

Carrasquillo, M. M., Allen, M., Burgess, J. D., Wang, X., Strickland, S. L., Aryal, S., Siuda, J., Kachadoorian, M. L., Medway, C., Younkin, C. S., Nair, A., Wang, C., Chanana, P., Serie, D., Nguyen, T., Lincoln, S., Malphrus, K. G., Morgan, K., Golde, T. E., Price, N. D. & 10 others, White, C. C., De Jager, P. L., Bennett, D. A., Asmann, Y. W., Crook, J. E., Petersen, R. C., Graff-Radford, N. R., Dickson, D. W., Younkin, S. G. & Ertekin-Taner, N., Jun 2017, In : Alzheimer's and Dementia. 13, 6, p. 663-673 11 p.

Research output: Contribution to journalArticle

21 Scopus citations

African American exome sequencing identifies potential risk variants at Alzheimer disease loci

N'songo, A., Carrasquillo, M. M., Wang, X., Burgess, J. D., Nguyen, T., Asmann, Y., Serie, D. J., Younkin, S. G., Allen, M., Pedraza, O. D., Duara, R., Custo, M. T. G., Graff Radford, N. R. & Taner, N., Jan 1 2017, In : Neurology: Genetics. 3, 2, e141.

Research output: Contribution to journalArticle

6 Scopus citations

Alzheimer's disease-related dementias summit 2016: National research priorities

Corriveau, R. A., Koroshetz, W. J., Gladman, J. T., Jeon, S., Babcock, D., Bennett, D. A., Carmichael, S. T., Dickinson, S. L. J., Dickson, D. W., Emr, M., Fillit, H., Greenberg, S. M., Hutton, M. L., Knopman, D. S., Manly, J. J., Marder, K. S., Moy, C. S., Phelps, C. H., Scott, P. A., Seeley, W. W. & 8 others, Sieber, B. A., Silverberg, N. B., Sutherland, M. L., Taylor, A., Torborg, C. L., Waddy, S. P., Gubitz, A. K. & Holtzman, D. M., Dec 2017, In : Neurology. 89, 23, p. 2381-2391 11 p.

Research output: Contribution to journalReview article

34 Scopus citations

Amyloid PET scan: Staging beyond reading?

Chételat, G. & Murray, M. E., Jan 1 2017, In : Neurology. 89, 20, p. 2029-2030 2 p.

Research output: Contribution to journalEditorial

2 Scopus citations

An Acetylation–phosphorylation switch that regulates tau aggregation propensity and function

Carlomagno, Y., Chung, D. E. C., Yue, M., Castanedes-Casey, M., Madden, B. J., Dunmore, J., Tong, J., Deture, M., Dickson, D. W., Petrucelli, L. & Cook, C., 2017, In : Journal of Biological Chemistry. 292, 37, p. 15277-15286 10 p.

Research output: Contribution to journalArticle

38 Scopus citations

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies

Kun-Rodrigues, C., Ross, O. A., Orme, T., Shepherd, C., Parkkinen, L., Darwent, L., Hernandez, D., Ansorge, O., Clark, L. N., Honig, L. S., Marder, K., Lemstra, A., Scheltens, P., van der Flier, W., Louwersheimer, E., Holstege, H., Rogaeva, E., St. George-Hyslop, P., Londos, E., Zetterberg, H. & 44 others, Barber, I., Braae, A., Brown, K., Morgan, K., Maetzler, W., Berg, D., Troakes, C., Al-Sarraj, S., Lashley, T., Holton, J., Compta, Y., Van Deerlin, V., Trojanowski, J. Q., Serrano, G. E., Beach, T. G., Clarimon, J., Lleó, A., Morenas-Rodríguez, E., Lesage, S., Galasko, D., Masliah, E., Santana, I., Diez, M., Pastor, P., 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., Stone, D. J., Pickering-Brown, S., Mann, D., Dickson, D. W., Halliday, G. M., Singleton, A., Guerreiro, R. & Bras, J., Jan 1 2017, In : Neurobiology of aging. 49, p. 214.e13-214.e15

Research output: Contribution to journalArticle

11 Scopus citations

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

Lara-Velazquez, M., Perdomo-Pantoja, A., Blackburn, P. R., Gass, J. M., Caulfield, T. & Atwal, P. S., Jan 1 2017, In : Molecular Genetics and Genomic Medicine. 5, 6, p. 781-787 7 p.

Research output: Contribution to journalArticle

4 Scopus citations