Rosa Rademakers, Ph.D. - Publications

Affiliations: 
Neuroscience Mayo Clinic Jacksonville, Jacksonville, FL, United States 

177 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, ... ... Rademakers R, et al. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. PMID 31173437 DOI: 10.1111/jon.12642  0.32
2019 van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, ... ... Rademakers R, et al. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathologica. PMID 31131421 DOI: 10.1007/s00401-019-02026-8  0.32
2019 Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, ... ... Rademakers R, et al. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 31088775 DOI: 10.1016/j.jalz.2019.01.012  0.32
2019 Nelson PT, Dickson DW, Trojanowski JQ, Jack CR, Boyle PA, Arfanakis K, Rademakers R, Alafuzoff I, Attems J, Brayne C, Coyle-Gilchrist ITS, Chui HC, Fardo DW, Flanagan ME, Halliday G, et al. Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report. Brain : a Journal of Neurology. PMID 31039256 DOI: 10.1093/brain/awz099  0.32
2019 Heckman MG, Brennan RR, Labbé C, Soto AI, Koga S, DeTure MA, Murray ME, Petersen RC, Boeve BF, van Gerpen JA, Uitti RJ, Wszolek ZK, Rademakers R, Dickson DW, Ross OA. Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology. Jama Neurology. PMID 30882841 DOI: 10.1001/jamaneurol.2019.0250  0.32
2019 Zarb Y, Weber-Stadlbauer U, Kirschenbaum D, Kindler DR, Richetto J, Keller D, Rademakers R, Dickson DW, Pasch A, Byzova T, Nahar K, Voigt FF, Helmchen F, Boss A, Aguzzi A, et al. Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response. Brain : a Journal of Neurology. PMID 30805583 DOI: 10.1093/brain/awz032  0.32
2019 Zhang YJ, Guo L, Gonzales PK, Gendron TF, Wu Y, Jansen-West K, O'Raw AD, Pickles SR, Prudencio M, Carlomagno Y, Gachechiladze MA, Ludwig C, Tian R, Chew J, DeTure M, ... ... Rademakers R, et al. Heterochromatin anomalies and double-stranded RNA accumulation underlie poly(PR) toxicity. Science (New York, N.Y.). 363. PMID 30765536 DOI: 10.1126/science.aav2606  0.32
2019 Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, ... ... Rademakers R, et al. 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. Acta Neuropathologica. PMID 30739198 DOI: 10.1007/s00401-019-01962-9  0.32
2019 Carlomagno Y, Chung DC, Yue M, Kurti A, Avendano NM, Castanedes-Casey M, Hinkle KM, Jansen-West K, Daughrity LM, Tong J, Phillips V, Rademakers R, DeTure M, Fryer JD, Dickson DW, et al. Enhanced phosphorylation of T153 in soluble tau is a defining biochemical feature of the A152T tau risk variant. Acta Neuropathologica Communications. 7: 10. PMID 30674342 DOI: 10.1186/s40478-019-0661-2  0.32
2019 Josephs KA, Murray ME, Tosakulwong N, Weigand SD, Serie AM, Perkerson RB, Matchett BJ, Jack CR, Knopman DS, Petersen RC, Parisi JE, Petrucelli L, Baker M, Rademakers R, Whitwell JL, et al. Pathological, imaging and genetic characteristics support the existence of distinct TDP-43 types in non-FTLD brains. Acta Neuropathologica. PMID 30604226 DOI: 10.1007/s00401-018-1951-7  0.32
2018 Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, ... ... Rademakers R, et al. APOE ε2 is associated with increased tau pathology in primary tauopathy. Nature Communications. 9: 4388. PMID 30348994 DOI: 10.1038/s41467-018-06783-0  0.32
2018 Zhang M, Ferrari R, Tartaglia MC, Keith J, Surace EI, Wolf U, Sato C, Grinberg M, Liang Y, Xi Z, Dupont K, McGoldrick P, Weichert A, McKeever PM, Schneider R, ... ... Rademakers R, et al. A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. Brain : a Journal of Neurology. PMID 30252044 DOI: 10.1093/brain/awy238  0.32
2018 Ebbert MTW, Farrugia SL, Sens JP, Jansen-West K, Gendron TF, Prudencio M, McLaughlin IJ, Bowman B, Seetin M, DeJesus-Hernandez M, Jackson J, Brown PH, Dickson DW, van Blitterswijk M, Rademakers R, et al. Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease. Molecular Neurodegeneration. 13: 46. PMID 30126445 DOI: 10.1186/s13024-018-0274-4  0.32
2018 Sakae N, Bieniek KF, Zhang YJ, Ross K, Gendron TF, Murray ME, Rademakers R, Petrucelli L, Dickson DW. Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease. Acta Neuropathologica Communications. 6: 63. PMID 30029693 DOI: 10.1186/s40478-018-0564-7  0.32
2018 Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, et al. Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. Molecular Neurodegeneration. 13: 37. PMID 29986742 DOI: 10.1186/s13024-018-0267-3  0.32
2018 Mordes DA, Prudencio M, Goodman LD, Klim JR, Moccia R, Limone F, Pietilainen O, Chowdhary K, Dickson DW, Rademakers R, Bonini NM, Petrucelli L, Eggan K. Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients. Acta Neuropathologica Communications. 6: 55. PMID 29973287 DOI: 10.1186/s40478-018-0555-8  0.32
2018 Ren Y, van Blitterswijk M, Allen M, Carrasquillo MM, Reddy JS, Wang X, Beach TG, Dickson DW, Ertekin-Taner N, Asmann YW, Rademakers R. TMEM106B haplotypes have distinct gene expression patterns in aged brain. Molecular Neurodegeneration. 13: 35. PMID 29970152 DOI: 10.1186/s13024-018-0268-2  0.32
2018 Zhang YJ, Gendron TF, Ebbert MTW, O'Raw AD, Yue M, Jansen-West K, Zhang X, Prudencio M, Chew J, Cook CN, Daughrity LM, Tong J, Song Y, Pickles SR, Castanedes-Casey M, ... ... Rademakers R, et al. Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. Nature Medicine. PMID 29942091 DOI: 10.1038/s41591-018-0071-1  0.32
2018 Nicholson AM, Zhou X, Perkerson RB, Parsons TM, Chew J, Brooks M, DeJesus-Hernandez M, Finch NA, Matchett BJ, Kurti A, Jansen-West KR, Perkerson E, Daughrity L, Castanedes-Casey M, Rousseau L, ... ... Rademakers R, et al. Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity. Acta Neuropathologica Communications. 6: 42. PMID 29855382 DOI: 10.1186/s40478-018-0545-x  0.32
2018 Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, ... ... Rademakers R, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet. Neurology. PMID 29724592 DOI: 10.1016/S1474-4422(18)30126-1  0.32
2018 Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, ... ... Rademakers R, et al. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene. Neuron. 97: 1268-1283.e6. PMID 29566793 DOI: 10.1016/j.neuron.2018.02.027  0.32
2018 Kasanuki K, Ross OA, DeTure MA, Walton RL, Sanchez-Contreras M, Koga S, Murray ME, Rademakers R, Dickson DW. Relationships between lewy and tau pathologies in 375 consecutive non-Alzheimer's olfactory bulbs. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29322556 DOI: 10.1002/mds.27250  0.32
2018 Chou CC, Zhang Y, Umoh ME, Vaughan SW, Lorenzini I, Liu F, Sayegh M, Donlin-Asp PG, Chen YH, Duong DM, Seyfried NT, Powers MA, Kukar T, Hales CM, Gearing M, ... ... Rademakers R, et al. TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD. Nature Neuroscience. PMID 29311743 DOI: 10.1038/s41593-017-0047-3  0.32
2017 Caneus J, Granic A, Rademakers R, Dickson DW, Coughlan CM, Chial HJ, Potter H. Mitotic Defects Lead to Neuronal Aneuploidy and Apoptosis in Frontotemporal Lobar Degeneration Caused by MAPT Mutations. Molecular Biology of the Cell. PMID 29282277 DOI: 10.1091/mbc.E17-01-0031  0.32
2017 Hirsch-Reinshagen V, Pottier C, Nicholson AM, Baker M, Hsiung GR, Krieger C, Sengdy P, Boylan KB, Dickson DW, Mesulam M, Weintraub S, Bigio E, Zinman L, Keith J, Rogaeva E, ... ... Rademakers R, et al. Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Acta Neuropathologica Communications. 5: 96. PMID 29216908 DOI: 10.1186/s40478-017-0493-x  0.32
2017 Koga S, Parks A, Kasanuki K, Sanchez-Contreras M, Baker MC, Josephs KA, Ahlskog JE, Uitti RJ, Graff-Radford N, van Gerpen JA, Wszolek ZK, Rademakers R, Dickson DW. Cognitive impairment in progressive supranuclear palsy is associated with tau burden. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 29082658 DOI: 10.1002/mds.27198  0.32
2017 Sanchez-Contreras M, Soto AI, Walton RL, Wszolek ZK, Dickson DW, Ross OA, Rademakers R. DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy. Parkinsonism & Related Disorders. PMID 28867162 DOI: 10.1016/j.parkreldis.2017.08.027  0.32
2017 Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, ... ... Rademakers R, et al. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 95: 808-816.e9. PMID 28817800 DOI: 10.1016/j.neuron.2017.07.025  0.32
2017 Ebbert MTW, Ross CA, Pregent LJ, Lank RJ, Zhang C, Katzman RB, Jansen-West K, Song Y, da Rocha EL, Palmucci C, Desaro P, Robertson AE, Caputo AM, Dickson DW, Boylan KB, ... Rademakers R, et al. Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease. Acta Neuropathologica. PMID 28808785 DOI: 10.1007/s00401-017-1760-4  0.32
2017 Nicolas G, Sanchez-Contreras M, Ramos EM, Lemos RR, Ferreira J, Moura D, Sobrido MJ, Richard AC, Lopez AR, Legati A, Deleuze JF, Boland A, Quenez O, Krystkowiak P, Favrole P, ... ... Rademakers R, et al. Brain calcifications and PCDH12 variants. Neurology. Genetics. 3: e166. PMID 28804758 DOI: 10.1212/NXG.0000000000000166  0.32
2017 Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, ... ... Rademakers R, et al. Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers. Neurology. Genetics. 3: e161. PMID 28660252 DOI: 10.1212/NXG.0000000000000161  0.32
2017 Prudencio M, Gonzales PK, Cook CN, Gendron TF, Daughrity LM, Song Y, Ebbert MTW, van Blitterswijk M, Zhang YJ, Jansen-West K, Baker MC, DeTure M, Rademakers R, Boylan KB, Dickson DW, et al. Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients. Human Molecular Genetics. PMID 28637276 DOI: 10.1093/hmg/ddx233  0.32
2017 DeJesus-Hernandez M, Finch NA, Wang X, Gendron TF, Bieniek KF, Heckman MG, Vasilevich A, Murray ME, Rousseau L, Weesner R, Lucido A, Parsons M, Chew J, Josephs KA, Parisi JE, ... ... Rademakers R, et al. In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers. Acta Neuropathologica. PMID 28508101 DOI: 10.1007/s00401-017-1725-7  0.32
2017 Gendron TF, Chew J, Stankowski JN, Hayes LR, Zhang YJ, Prudencio M, Carlomagno Y, Daughrity LM, Jansen-West K, Perkerson EA, O'Raw A, Cook C, Pregent L, Belzil V, van Blitterswijk M, ... ... Rademakers R, et al. Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis. Science Translational Medicine. 9. PMID 28356511 DOI: 10.1126/scitranslmed.aai7866  0.32
2017 Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J, Momeni P, et al. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathologica. PMID 28271184 DOI: 10.1007/s00401-017-1693-y  0.32
2016 Sproviero W, Shatunov A, Stahl D, Shoai M, van Rheenen W, Jones AR, Al-Sarraj S, Andersen PM, Bonini NM, Conforti FL, Van Damme P, Daoud H, Del Mar Amador M, Fogh I, Forzan M, ... ... Rademakers R, et al. ATXN2 trinucleotide repeat length correlates with risk of ALS. Neurobiology of Aging. PMID 28017481 DOI: 10.1016/j.neurobiolaging.2016.11.010  0.32
2016 Koga S, Sanchez-Contreras M, Josephs KA, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Wszolek ZK, Rademakers R, Dickson DW. Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 28009087 DOI: 10.1002/mds.26809  0.32
2016 Tacik P, Sanchez-Contreras M, DeTure M, Murray ME, Rademakers R, Ross OA, Wszolek ZK, Parisi JE, Knopman DS, Petersen RC, Dickson DW. Clinicopathologic heterogeneity in FTDP-17 due to MAPT p.P301L mutation, including a patient with globular glial tauopathy. Neuropathology and Applied Neurobiology. PMID 27859539 DOI: 10.1111/nan.12367  0.32
2016 Sanchez-Contreras M, Heckman MG, Tacik P, Diehl N, Brown PH, Soto-Ortolaza AI, Christopher EA, Walton RL, Ross OA, Golbe LI, Graff-Radford N, Wszolek ZK, Dickson DW, Rademakers R. Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 27709685 DOI: 10.1002/mds.26815  0.32
2016 Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, ... ... Rademakers R, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of Aging. PMID 27658901 DOI: 10.1016/j.neurobiolaging.2016.07.028  0.32
2016 Nicholson AM, Rademakers R. What we know about TMEM106B in neurodegeneration. Acta Neuropathologica. PMID 27543298 DOI: 10.1007/s00401-016-1610-9  1
2016 Tacik P, DeTure MA, Yari C, Lin WL, Murray ME, Baker MC, Josephs KA, Boeve BF, Wszolek ZK, Graff-Radford NR, Parisi JE, Petrucelli L, Rademakers R, Isaacson RS, Heilman KM, et al. FTDP-17 with pick body-like inclusions associated with a novel tau mutation, p.E372G. Brain Pathology (Zurich, Switzerland). PMID 27529406 DOI: 10.1111/bpa.12428  0.32
2016 Heckman MG, Soto-Ortolaza AI, Sanchez Contreras MY, Murray ME, Pedraza O, Diehl NN, Walton R, Labbé C, Lorenzo-Betancor O, Uitti RJ, van Gerpen J, Ertekin-Taner N, Smith GE, Kantarci K, Savica R, ... ... Rademakers R, et al. LRRK2 variation and dementia with Lewy bodies. Parkinsonism & Related Disorders. PMID 27521182 DOI: 10.1016/j.parkreldis.2016.07.015  0.32
2016 Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW, Goodman LD, Daughrity L, Chew J, Garrett A, ... ... Rademakers R, et al. Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts. Science (New York, N.Y.). 353: 708-12. PMID 27516603 DOI: 10.1126/science.aaf7791  0.32
2016 Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, et al. TREM2 p.R47H substitution is not associated with dementia with Lewy bodies. Neurology. Genetics. 2: e85. PMID 27458607 DOI: 10.1212/NXG.0000000000000085  0.32
2016 Nicholson AM, Finch NA, Almeida M, Perkerson RB, van Blitterswijk M, Wojtas A, Cenik B, Rotondo S, Inskeep V, Almasy L, Dyer T, Peralta J, Jun G, Wood AR, Frayling TM, ... ... Rademakers R, et al. Prosaposin is a regulator of progranulin levels and oligomerization. Nature Communications. 7: 11992. PMID 27356620 DOI: 10.1038/ncomms11992  1
2016 Jaeger PA, Lucin KM, Britschgi M, Vardarajan B, Huang RP, Kirby ED, Abbey R, Boeve BF, Boxer AL, Farrer LA, Finch N, Graff-Radford NR, Head E, Hoffree M, Huang R, ... ... Rademakers R, et al. Network-driven plasma proteomics expose molecular changes in the Alzheimer's brain. Molecular Neurodegeneration. 11: 31. PMID 27112350 DOI: 10.1186/s13024-016-0095-2  1
2016 Williams KL, Topp S, Yang S, Smith B, Fifita JA, Warraich ST, Zhang KY, Farrawell N, Vance C, Hu X, Chesi A, Leblond CS, Lee A, Rayner SL, Sundaramoorthy V, ... ... Rademakers R, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nature Communications. 7: 11253. PMID 27080313 DOI: 10.1038/ncomms11253  0.32
2016 Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, ... ... Rademakers R, et al. The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. American Journal of Neurodegenerative Disease. 5: 94-101. PMID 27073747  0.32
2016 Fujioka S, Algom AA, Murray ME, Sanchez-Contreras MY, Tacik P, Tsuboi Y, Van Gerpen JA, Uitti RJ, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tremor in progressive supranuclear palsy. Parkinsonism & Related Disorders. PMID 27039056 DOI: 10.1016/j.parkreldis.2016.03.015  1
2016 Zhang YJ, Gendron TF, Grima JC, Sasaguri H, Jansen-West K, Xu YF, Katzman RB, Gass J, Murray ME, Shinohara M, Lin WL, Garrett A, Stankowski JN, Daughrity L, Tong J, ... ... Rademakers R, et al. C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins. Nature Neuroscience. PMID 26998601 DOI: 10.1038/nn.4272  0.32
2016 Koga S, Josephs KA, Ogaki K, Labbé C, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Aoki N, Rademakers R, Wszolek ZK, Ross OA, Dickson DW. Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C. Movement Disorders : Official Journal of the Movement Disorder Society. PMID 26841329 DOI: 10.1002/mds.26499  1
2015 Esanov R, Belle KC, van Blitterswijk M, Belzil VV, Rademakers R, Dickson DW, Petrucelli L, Boylan KB, Dykxhoorn DM, Wuu J, Benatar M, Wahlestedt C, Zeier Z. C9orf72 promoter hypermethylation is reduced while hydroxymethylation is acquired during reprogramming of ALS patient cells. Experimental Neurology. PMID 26746986 DOI: 10.1016/j.expneurol.2015.12.022  0.32
2015 Tacik P, Sanchez-Contreras M, Rademakers R, Dickson DW, Wszolek ZK. Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories. Neuro-Degenerative Diseases. PMID 26550830 DOI: 10.1159/000440840  1
2015 Bieniek KF, Ross OA, Cormier KA, Walton RL, Soto-Ortolaza A, Johnston AE, DeSaro P, Boylan KB, Graff-Radford NR, Wszolek ZK, Rademakers R, Boeve BF, McKee AC, Dickson DW. Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank. Acta Neuropathologica. PMID 26518018 DOI: 10.1007/s00401-015-1502-4  0.32
2015 Dickson DW, Rademakers R, Nicholson AM, Schneider JA, Yu L, Bennett DA. The TMEM106B locus and TDP-43 pathology in older persons without FTLD. Neurology. 85: 1354-5. PMID 26459943 DOI: 10.1212/01.wnl.0000472918.79256.a9  1
2015 van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, ... ... Rademakers R, et al. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72. Acta Neuropathologica. PMID 26437865 DOI: 10.1007/s00401-015-1480-6  1
2015 Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease. Journal of Neuropathology and Experimental Neurology. 74: 1042-52. PMID 26426266 DOI: 10.1097/NEN.0000000000000248  1
2015 Atagi Y, Liu CC, Painter MM, Chen XF, Verbeeck C, Zheng H, Li X, Rademakers R, Kang SS, Xu H, Younkin S, Das P, Fryer JD, Bu G. Apolipoprotein E is a Ligand for Triggering Receptor Expressed on Myeloid Cells 2 (TREM2). The Journal of Biological Chemistry. PMID 26374899 DOI: 10.1074/jbc.M115.679043  1
2015 Wren MC, Zhao J, Liu CC, Murray ME, Atagi Y, Davis MD, Fu Y, Okano HJ, Ogaki K, Strongosky AJ, Tacik P, Rademakers R, Ross OA, Dickson DW, Wszolek ZK, et al. Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells. Molecular Neurodegeneration. 10: 46. PMID 26373282 DOI: 10.1186/s13024-015-0042-7  1
2015 Gendron TF, van Blitterswijk M, Bieniek KF, Daughrity LM, Jiang J, Rush BK, Pedraza O, Lucas JA, Murray ME, Desaro P, Robertson A, Overstreet K, Thomas CS, Crook JE, Castanedes-Casey M, ... ... Rademakers R, et al. Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers. Acta Neuropathologica. 130: 559-73. PMID 26350237 DOI: 10.1007/s00401-015-1474-4  1
2015 Painter MM, Atagi Y, Liu CC, Rademakers R, Xu H, Fryer JD, Bu G. TREM2 in CNS homeostasis and neurodegenerative disease. Molecular Neurodegeneration. 10: 43. PMID 26337043 DOI: 10.1186/s13024-015-0040-9  1
2015 Labbé C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, ... ... Rademakers R, et al. Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies. Neurology. PMID 26333800 DOI: 10.1212/WNL.0000000000001946  0.32
2015 Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome. American Journal of Human Genetics. 97: 465-74. PMID 26279204 DOI: 10.1016/j.ajhg.2015.07.009  1
2015 Prudencio M, Belzil VV, Batra R, Ross CA, Gendron TF, Pregent LJ, Murray ME, Overstreet KK, Piazza-Johnston AE, Desaro P, Bieniek KF, DeTure M, Lee WC, Biendarra SM, Davis MD, ... ... Rademakers R, et al. Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nature Neuroscience. 18: 1175-82. PMID 26192745 DOI: 10.1038/nn.4065  1
2015 Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NC, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, ... ... Rademakers R, et al. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. Nature Communications. 6: 7247. PMID 26077951 DOI: 10.1038/ncomms8247  1
2015 Xi Z, van Blitterswijk M, Zhang M, McGoldrick P, McLean JR, Yunusova Y, Knock E, Moreno D, Sato C, McKeever PM, Schneider R, Keith J, Petrescu N, Fraser P, Tartaglia MC, ... ... Rademakers R, et al. Jump from Pre-mutation to Pathologic Expansion in C9orf72. American Journal of Human Genetics. 96: 962-70. PMID 26004200 DOI: 10.1016/j.ajhg.2015.04.016  1
2015 Chew J, Gendron TF, Prudencio M, Sasaguri H, Zhang YJ, Castanedes-Casey M, Lee CW, Jansen-West K, Kurti A, Murray ME, Bieniek KF, Bauer PO, Whitelaw EC, Rousseau L, Stankowski JN, ... ... Rademakers R, et al. Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits. Science (New York, N.Y.). 348: 1151-4. PMID 25977373 DOI: 10.1126/science.aaa9344  0.32
2015 Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, ... ... Rademakers R, et al. Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. Acta Neuropathologica. 130: 77-92. PMID 25943890 DOI: 10.1007/s00401-015-1436-x  1
2015 Nakamura M, Bieniek KF, Lin WL, Graff-Radford NR, Murray ME, Castanedes-Casey M, Desaro P, Baker MC, Rutherford NJ, Robertson J, Rademakers R, Dickson DW, Boylan KB. A truncating SOD1 mutation, p.Gly141X, is associated with clinical and pathologic heterogeneity, including frontotemporal lobar degeneration. Acta Neuropathologica. 130: 145-57. PMID 25917047 DOI: 10.1007/s00401-015-1431-2  1
2015 Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, ... ... Rademakers R, et al. A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta Neuropathologica. 130: 199-214. PMID 25900293 DOI: 10.1007/s00401-015-1425-0  1
2015 Flanagan EP, Baker MC, Perkerson RB, Duffy JR, Strand EA, Whitwell JL, Machulda MM, Rademakers R, Josephs KA. Dominant frontotemporal dementia mutations in 140 cases of primary progressive aphasia and speech apraxia. Dementia and Geriatric Cognitive Disorders. 39: 281-6. PMID 25765123 DOI: 10.1159/000375299  1
2015 Whitwell JL, Boeve BF, Weigand SD, Senjem ML, Gunter JL, Baker MC, DeJesus-Hernandez M, Knopman DS, Wszolek ZK, Petersen RC, Rademakers R, Jack CR, Josephs KA. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 22: 745-52. PMID 25683866 DOI: 10.1111/ene.12675  1
2015 Fujioka S, Strongosky AJ, Hassan A, Rademakers R, Dickson DW, Wszolek ZK. Clinical presentation of a patient with SLC20A2 and THAP1 deletions: differential diagnosis of oromandibular dystonia. Parkinsonism & Related Disorders. 21: 329-31. PMID 25609077 DOI: 10.1016/j.parkreldis.2014.12.024  1
2015 Ng AS, Rademakers R, Miller BL. Frontotemporal dementia: a bridge between dementia and neuromuscular disease. Annals of the New York Academy of Sciences. 1338: 71-93. PMID 25557955 DOI: 10.1111/nyas.12638  1
2015 Fujioka S, Sanchez Contreras MY, Strongosky AJ, Ogaki K, Whaley NR, Tacik PM, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK, Rademakers R, Dickson DW. Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. Parkinsonism & Related Disorders. 21: 101-5. PMID 25443551 DOI: 10.1016/j.parkreldis.2014.10.028  1
2015 Pottier C, Baker M, Dickson DW, Rademakers R. PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease. Brain : a Journal of Neurology. 138: e357. PMID 25414037 DOI: 10.1093/brain/awu332  0.32
2015 Aoki N, Murray ME, Ogaki K, Fujioka S, Rutherford NJ, Rademakers R, Ross OA, Dickson DW. Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A. Acta Neuropathologica. 129: 53-64. PMID 25367383 DOI: 10.1007/s00401-014-1358-z  0.32
2015 Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies. 22: 328-33. PMID 25311247 DOI: 10.1111/ene.12572  1
2015 Kertesz A, Finger E, Murrell J, Chertkow H, Ang LC, Baker M, Ravenscroft T, Rademakers R, Munoz DG. Progressive supranuclear palsy in a family with TDP-43 pathology. Neurocase. 21: 178-84. PMID 24479957 DOI: 10.1080/13554794.2013.878729  1
2014 Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, et al. Analysis of COQ2 gene in multiple system atrophy. Molecular Neurodegeneration. 9: 44. PMID 25373618 DOI: 10.1186/1750-1326-9-44  1
2014 Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, et al. Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion. Brain : a Journal of Neurology. 137: 3047-60. PMID 25273996 DOI: 10.1093/brain/awu248  1
2014 van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, ... ... Rademakers R, et al. Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Molecular Neurodegeneration. 9: 38. PMID 25239657 DOI: 10.1186/1750-1326-9-38  0.32
2014 Xi Z, Yunusova Y, van Blitterswijk M, Dib S, Ghani M, Moreno D, Sato C, Liang Y, Singleton A, Robertson J, Rademakers R, Zinman L, Rogaeva E. Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 83: 1476-8. PMID 25209579 DOI: 10.1212/WNL.0000000000000886  1
2014 Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study. Parkinsonism & Related Disorders. 20: 1129-34. PMID 25175602 DOI: 10.1016/j.parkreldis.2014.07.014  1
2014 Zhang YJ, Jansen-West K, Xu YF, Gendron TF, Bieniek KF, Lin WL, Sasaguri H, Caulfield T, Hubbard J, Daughrity L, Chew J, Belzil VV, Prudencio M, Stankowski JN, Castanedes-Casey M, ... ... Rademakers R, et al. Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress. Acta Neuropathologica. 128: 505-24. PMID 25173361 DOI: 10.1007/s00401-014-1336-5  1
2014 Su Z, Zhang Y, Gendron TF, Bauer PO, Chew J, Yang WY, Fostvedt E, Jansen-West K, Belzil VV, Desaro P, Johnston A, Overstreet K, Oh SY, Todd PK, Berry JD, ... ... Rademakers R, et al. Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS. Neuron. 83: 1043-50. PMID 25132468 DOI: 10.1016/j.neuron.2014.07.041  1
2014 Hallam BJ, Jacova C, Hsiung GY, Wittenberg D, Sengdy P, Bouchard-Kerr P, Slack P, Rademakers R, Baker M, Chow TW, Levine B, Feldman HH, Mackenzie IR. Early neuropsychological characteristics of progranulin mutation carriers. Journal of the International Neuropsychological Society : Jins. 20: 694-703. PMID 24993774 DOI: 10.1017/S1355617714000551  1
2014 Guerreiro R, Brás J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of Aging. 35: 2656.e13-6. PMID 24958194 DOI: 10.1016/j.neurobiolaging.2014.05.013  1
2014 Murray ME, Cannon A, Graff-Radford NR, Liesinger AM, Rutherford NJ, Ross OA, Duara R, Carrasquillo MM, Rademakers R, Dickson DW. Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathologica. 128: 411-21. PMID 24899141 DOI: 10.1007/s00401-014-1302-2  1
2014 van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, ... ... Rademakers R, et al. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiology of Aging. 35: 2421.e13-7. PMID 24866401 DOI: 10.1016/j.neurobiolaging.2014.04.016  1
2014 Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R. ALS-FTD complex disorder due to C9ORF72 gene mutation: description of first Polish family. European Neurology. 72: 64-71. PMID 24861139 DOI: 10.1159/000362267  1
2014 Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Human Mutation. 35: 964-71. PMID 24796542 DOI: 10.1002/humu.22582  1
2014 Nicholson AM, Finch NA, Thomas CS, Wojtas A, Rutherford NJ, Mielke MM, Roberts RO, Boeve BF, Knopman DS, Petersen RC, Rademakers R. Progranulin protein levels are differently regulated in plasma and CSF. Neurology. 82: 1871-8. PMID 24771538 DOI: 10.1212/WNL.0000000000000445  1
2014 Bieniek KF, van Blitterswijk M, Baker MC, Petrucelli L, Rademakers R, Dickson DW. Expanded C9ORF72 hexanucleotide repeat in depressive pseudodementia. Jama Neurology. 71: 775-81. PMID 24756204 DOI: 10.1001/jamaneurol.2013.6368  1
2014 Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL, Mao Q, Akman O, DiMauro S, Bigio EH. Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. Neuropathology and Applied Neurobiology. 40: 778-82. PMID 24750115 DOI: 10.1111/nan.12144  1
2014 Bit-Ivan EN, Suh E, Shim HS, Weintraub S, Hyman BT, Arnold SE, McCarty-Wood E, Van Deerlin VM, Schneider JA, Trojanowski JQ, Frosch MP, Baker MC, Rademakers R, Mesulam M, Bigio EH. A novel GRN mutation (GRN c.708+6_+9delTGAG) in frontotemporal lobar degeneration with TDP-43-positive inclusions: clinicopathologic report of 6 cases. Journal of Neuropathology and Experimental Neurology. 73: 467-73. PMID 24709683 DOI: 10.1097/NEN.0000000000000070  1
2014 Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, ... ... Rademakers R, et al. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Journal of Medical Genetics. 51: 419-24. PMID 24706941 DOI: 10.1136/jmedgenet-2014-102360  1
2014 Shinohara M, Fujioka S, Murray ME, Wojtas A, Baker M, Rovelet-Lecrux A, Rademakers R, Das P, Parisi JE, Graff-Radford NR, Petersen RC, Dickson DW, Bu G. Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease. Brain : a Journal of Neurology. 137: 1533-49. PMID 24625695 DOI: 10.1093/brain/awu046  1
2014 Josephs KA, Duffy JR, Strand EA, Machulda MM, Vemuri P, Senjem ML, Perkerson RB, Baker MC, Lowe V, Jack CR, Rademakers R, Whitwell JL. Progranulin-associated PiB-negative logopenic primary progressive aphasia. Journal of Neurology. 261: 604-14. PMID 24449064 DOI: 10.1007/s00415-014-7243-9  1
2014 van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, ... ... Rademakers R, et al. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathologica. 127: 397-406. PMID 24385136 DOI: 10.1007/s00401-013-1240-4  1
2014 van Blitterswijk M, Rademakers R, van den Berg LH. Clinical variability and additional mutations in amyotrophic lateral sclerosis patients with p.N352S mutations in TARDBP. Neuropathology and Applied Neurobiology. 40: 356-8. PMID 24237396 DOI: 10.1111/nan.12099  1
2014 Lee WC, Almeida S, Prudencio M, Caulfield TR, Zhang YJ, Tay WM, Bauer PO, Chew J, Sasaguri H, Jansen-West KR, Gendron TF, Stetler CT, Finch N, Mackenzie IR, Rademakers R, et al. Targeted manipulation of the sortilin-progranulin axis rescues progranulin haploinsufficiency. Human Molecular Genetics. 23: 1467-78. PMID 24163244 DOI: 10.1093/hmg/ddt534  1
2014 Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 15: 23-30. PMID 24135862 DOI: 10.1007/s10048-013-0378-5  1
2014 Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, ... Rademakers R, et al. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathologica. 127: 271-82. PMID 24121548 DOI: 10.1007/s00401-013-1193-7  1
2014 Caselli RJ, Locke DE, Dueck AC, Knopman DS, Woodruff BK, Hoffman-Snyder C, Rademakers R, Fleisher AS, Reiman EM. The neuropsychology of normal aging and preclinical Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 10: 84-92. PMID 23541188 DOI: 10.1016/j.jalz.2013.01.004  1
2014 Adeli A, Savica R, Lowe VJ, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Crum BA, Jack CR, Petersen RC, Boeve BF. The GGGGCC repeat expansion in C9ORF72 in a case with discordant clinical and FDG-PET findings: PET trumps syndrome. Neurocase. 20: 110-20. PMID 23199140 DOI: 10.1080/13554794.2012.732090  1
2014 Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, et al. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. 20: 69-86. PMID 23121543 DOI: 10.1080/13554794.2012.732087  1
2013 Belzil VV, Bauer PO, Prudencio M, Gendron TF, Stetler CT, Yan IK, Pregent L, Daughrity L, Baker MC, Rademakers R, Boylan K, Patel TC, Dickson DW, Petrucelli L. Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood. Acta Neuropathologica. 126: 895-905. PMID 24166615 DOI: 10.1007/s00401-013-1199-1  1
2013 Gendron TF, Bieniek KF, Zhang YJ, Jansen-West K, Ash PE, Caulfield T, Daughrity L, Dunmore JH, Castanedes-Casey M, Chew J, Cosio DM, van Blitterswijk M, Lee WC, Rademakers R, Boylan KB, et al. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathologica. 126: 829-44. PMID 24129584 DOI: 10.1007/s00401-013-1192-8  1
2013 Fujioka S, Broderick DF, Sundal C, Baker MC, Rademakers R, Wszolek ZK. An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders. Journal of Neurology. 260: 2665-8. PMID 24036850 DOI: 10.1007/s00415-013-7093-x  1
2013 van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, ... ... Rademakers R, et al. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 81: 1332-41. PMID 24027057 DOI: 10.1212/WNL.0b013e3182a8250c  1
2013 van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, ... ... Rademakers R, et al. Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study. The Lancet. Neurology. 12: 978-88. PMID 24011653 DOI: 10.1016/S1474-4422(13)70210-2  1
2013 Jacova C, Hsiung GY, Tawankanjanachot I, Dinelle K, McCormick S, Gonzalez M, Lee H, Sengdy P, Bouchard-Kerr P, Baker M, Rademakers R, Sossi V, Stoessl AJ, Feldman HH, Mackenzie IR. Anterior brain glucose hypometabolism predates dementia in progranulin mutation carriers. Neurology. 81: 1322-31. PMID 24005336 DOI: 10.1212/WNL.0b013e3182a8237e  1
2013 Murray ME, Bieniek KF, Banks Greenberg M, DeJesus-Hernandez M, Rutherford NJ, van Blitterswijk M, Niemantsverdriet E, Ash PE, Gendron TF, Kouri N, Baker M, Goodman IJ, Petrucelli L, Rademakers R, Dickson DW. Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72. Acta Neuropathologica. 126: 545-54. PMID 23922030 DOI: 10.1007/s00401-013-1161-2  1
2013 Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL, Caselli R, ... ... Rademakers R, et al. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Molecular Neurodegeneration. 8: 19. PMID 23800361 DOI: 10.1186/1750-1326-8-19  1
2013 Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, ... ... Rademakers R, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism & Related Disorders. 19: 869-77. PMID 23787135 DOI: 10.1016/j.parkreldis.2013.05.013  1
2013 Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N, ... ... Rademakers R, et al. TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. Journal of Neurochemistry. 126: 781-91. PMID 23742080 DOI: 10.1111/jnc.12329  1
2013 Fujioka S, Algom AA, Murray ME, Strongosky A, Soto-Ortolaza AI, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. Neurology. 80: 2076-8. PMID 23635960 DOI: 10.1212/WNL.0b013e318294b2eb  1
2013 Ravenscroft TA, Baker MC, Rutherford NJ, Neumann M, Mackenzie IR, Josephs KA, Boeve BF, Petersen R, Halliday GM, Kril J, van Swieten JC, Seeley WW, Dickson DW, Rademakers R. Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS. Neurobiology of Aging. 34: 2235.e11-3. PMID 23635657 DOI: 10.1016/j.neurobiolaging.2013.04.004  1
2013 van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 463-9. PMID 23634771 DOI: 10.3109/21678421.2013.787630  1
2013 Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology. 80: 1771-7. PMID 23596077 DOI: 10.1212/WNL.0b013e3182919059  1
2013 Miller ZA, Rankin KP, Graff-Radford NR, Takada LT, Sturm VE, Cleveland CM, Criswell LA, Jaeger PA, Stan T, Heggeli KA, Hsu SC, Karydas A, Khan BK, Grinberg LT, Gorno-Tempini ML, ... ... Rademakers R, et al. TDP-43 frontotemporal lobar degeneration and autoimmune disease. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 956-62. PMID 23543794 DOI: 10.1136/jnnp-2012-304644  1
2013 Lee SE, Tartaglia MC, Yener G, Genç S, Seeley WW, Sanchez-Juan P, Moreno F, Mendez MF, Klein E, Rademakers R, López de Munain A, Combarros O, Kramer JH, Kenet RO, Boxer AL, et al. Neurodegenerative disease phenotypes in carriers of MAPT p.A152T, a risk factor for frontotemporal dementia spectrum disorders and Alzheimer disease. Alzheimer Disease and Associated Disorders. 27: 302-9. PMID 23518664 DOI: 10.1097/WAD.0b013e31828cc357  1
2013 Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 495: 467-73. PMID 23455423 DOI: 10.1038/nature11922  1
2013 Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 77: 639-46. PMID 23415312 DOI: 10.1016/j.neuron.2013.02.004  1
2013 Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 80: 1033-40. PMID 23408870 DOI: 10.1212/WNL.0b013e31828726a7  1
2013 Josephs KA, Whitwell JL, Murray ME, Parisi JE, Graff-Radford NR, Knopman DS, Boeve BF, Senjem ML, Rademakers R, Jack CR, Petersen RC, Dickson DW. Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. Brain : a Journal of Neurology. 136: 455-70. PMID 23358603 DOI: 10.1093/brain/aws324  1
2013 Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. TARDBP mutations in Parkinson's disease. Parkinsonism & Related Disorders. 19: 312-5. PMID 23231971 DOI: 10.1016/j.parkreldis.2012.11.003  1
2013 Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, ... ... Rademakers R, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/NEJMoa1211851  1
2013 Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilariño-Güell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathologica. 125: 425-38. PMID 23124435 DOI: 10.1007/s00401-012-1059-4  1
2013 Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism & Related Disorders. 19: 198-201. PMID 23084342 DOI: 10.1016/j.parkreldis.2012.09.013  1
2013 Bieniek KF, Murray ME, Rutherford NJ, Castanedes-Casey M, DeJesus-Hernandez M, Liesinger AM, Baker MC, Boylan KB, Rademakers R, Dickson DW. Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion. Acta Neuropathologica. 125: 289-302. PMID 23053135 DOI: 10.1007/s00401-012-1048-7  1
2013 Coon EA, Daube JR, Dejesus-Hernandez M, Adeli A, Savica R, Parisi JE, Dickson DW, Josephs KA, Baker MC, Johnson KA, Ivnik RJ, Petersen RC, Knopman DS, Boylan KB, Rademakers R, et al. Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration. 14: 132-7. PMID 23035801 DOI: 10.3109/17482968.2012.724075  1
2013 Benussi L, Rademakers R, Rutherford NJ, Wojtas A, Glionna M, Paterlini A, Albertini V, Bettecken T, Binetti G, Ghidoni R. Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. Journal of Alzheimer's Disease : Jad. 33: 69-76. PMID 22890101 DOI: 10.3233/JAD-2012-121306  0.32
2013 Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. Journal of Alzheimer's Disease : Jad. 33: S35-45. PMID 22751173 DOI: 10.3233/JAD-2012-129036  1
2013 Bigio EH, Weintraub S, Rademakers R, Baker M, Ahmadian SS, Rademaker A, Weitner BB, Mao Q, Lee KH, Mishra M, Ganti RA, Mesulam MM. Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlation. Neuropathology : Official Journal of the Japanese Society of Neuropathology. 33: 122-33. PMID 22702520 DOI: 10.1111/j.1440-1789.2012.01332.x  1
2013 McDade EM, Boeve BF, Fields JA, Kumar N, Rademakers R, Baker MC, Knopman BD, Petersen RC, Jack CR, Kantarci K. MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene. Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging. 23: 409-13. PMID 22612156 DOI: 10.1111/j.1552-6569.2012.00717.x  1
2013 Whitwell JL, Xu J, Mandrekar J, Boeve BF, Knopman DS, Parisi JE, Senjem ML, Dickson DW, Petersen RC, Rademakers R, Jack CR, Josephs KA. Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiology of Aging. 34: 636-9. PMID 22502999 DOI: 10.1016/j.neurobiolaging.2012.03.009  1
2012 Wojtas A, Heggeli KA, Finch N, Baker M, Dejesus-Hernandez M, Younkin SG, Dickson DW, Graff-Radford NR, Rademakers R. C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic. American Journal of Neurodegenerative Disease. 1: 107-18. PMID 23383383  0.32
2012 Prudencio M, Jansen-West KR, Lee WC, Gendron TF, Zhang YJ, Xu YF, Gass J, Stuani C, Stetler C, Rademakers R, Dickson DW, Buratti E, Petrucelli L. Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proceedings of the National Academy of Sciences of the United States of America. 109: 21510-5. PMID 23236149 DOI: 10.1073/pnas.1211577110  1
2012 Verbeeck C, Deng Q, Dejesus-Hernandez M, Taylor G, Ceballos-Diaz C, Kocerha J, Golde T, Das P, Rademakers R, Dickson DW, Kukar T. Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis. Molecular Neurodegeneration. 7: 53. PMID 23046583 DOI: 10.1186/1750-1326-7-53  1
2012 Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R, Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK. A novel de novo pathogenic mutation in the CACNA1A gene. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 1578-9. PMID 23038654 DOI: 10.1002/mds.25198  1
2012 Takada LT, Pimentel ML, Dejesus-Hernandez M, Fong JC, Yokoyama JS, Karydas A, Thibodeau MP, Rutherford NJ, Baker MC, Lomen-Hoerth C, Rademakers R, Miller BL. Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation. Archives of Neurology. 69: 1149-53. PMID 22964910 DOI: 10.1001/archneurol.2012.650  1
2012 Keller BA, Volkening K, Droppelmann CA, Ang LC, Rademakers R, Strong MJ. Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism. Acta Neuropathologica. 124: 733-47. PMID 22941224 DOI: 10.1007/s00401-012-1035-z  1
2012 Duker AP, Espay AJ, Wszolek ZK, Rademakers R, Dickson DW, Kelley BJ. Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. The Neurologist. 18: 266-72. PMID 22931731 DOI: 10.1097/NRL.0b013e3182675376  1
2012 Sha SJ, Takada LT, Rankin KP, Yokoyama JS, Rutherford NJ, Fong JC, Khan B, Karydas A, Baker MC, DeJesus-Hernandez M, Pribadi M, Coppola G, Geschwind DH, Rademakers R, Lee SE, et al. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 79: 1002-11. PMID 22875087 DOI: 10.1212/WNL.0b013e318268452e  1
2012 Rutherford NJ, Carrasquillo MM, Li M, Bisceglio G, Menke J, Josephs KA, Parisi JE, Petersen RC, Graff-Radford NR, Younkin SG, Dickson DW, Rademakers R. TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease. Neurology. 79: 717-8. PMID 22855871 DOI: 10.1212/WNL.0b013e318264e3ac  1
2012 Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, ... ... Rademakers R, et al. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 79: 566-74. PMID 22843259 DOI: 10.1212/WNL.0b013e318263575a  1
2012 Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, ... ... Rademakers R, et al. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiology of Aging. 33: 2950.e5-7. PMID 22840558 DOI: 10.1016/j.neurobiolaging.2012.07.005  1
2012 Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R. C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology. 79: 482-3. PMID 22815561 DOI: 10.1212/WNL.0b013e31826170f1  1
2012 Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjær A, Petrucelli L. Progranulin regulates neuronal outgrowth independent of sortilin. Molecular Neurodegeneration. 7: 33. PMID 22781549 DOI: 10.1186/1750-1326-7-33  1
2012 Savica R, Adeli A, Vemuri P, Knopman DS, Dejesus-Hernandez M, Rademakers R, Fields JA, Whitwell J, Jack CR, Lowe V, Petersen RC, Boeve BF. Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Archives of Neurology. 69: 1164-9. PMID 22637471 DOI: 10.1001/archneurol.2012.772  1
2012 Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, ... ... Rademakers R, et al. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Human Molecular Genetics. 21: 3500-12. PMID 22556362 DOI: 10.1093/hmg/dds161  0.48
2012 McDade E, Boeve BF, Burrus TM, Boot BP, Kantarci K, Fields J, Lowe VJ, Peller P, Knopman D, Baker M, Finch N, Rademakers R, Petersen R. Similar clinical and neuroimaging features in monozygotic twin pair with mutation in progranulin. Neurology. 78: 1245-9. PMID 22491866 DOI: 10.1212/WNL.0b013e318251594c  1
2012 Potts LF, Cambon AC, Ross OA, Rademakers R, Dickson DW, Uitti RJ, Wszolek ZK, Rai SN, Farrer MJ, Hein DW, Litvan I. Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. Bmc Medical Genetics. 13: 16. PMID 22424094 DOI: 10.1186/1471-2350-13-16  1
2012 Khan BK, Yokoyama JS, Takada LT, Sha SJ, Rutherford NJ, Fong JC, Karydas AM, Wu T, Ketelle RS, Baker MC, Hernandez MD, Coppola G, Geschwind DH, Rademakers R, Lee SE, et al. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. Journal of Neurology, Neurosurgery, and Psychiatry. 83: 358-64. PMID 22399793 DOI: 10.1136/jnnp-2011-301883  1
2012 Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR, et al. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain : a Journal of Neurology. 135: 794-806. PMID 22366795 DOI: 10.1093/brain/aws001  1
2010 Xu YF, Gendron TF, Zhang YJ, Lin WL, D'Alton S, Sheng H, Casey MC, Tong J, Knight J, Yu X, Rademakers R, Boylan K, Hutton M, McGowan E, Dickson DW, et al. Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 30: 10851-9. PMID 20702714 DOI: 10.1523/JNEUROSCI.1630-10.2010  1
2010 Kelley BJ, Haidar W, Boeve BF, Baker M, Shiung M, Knopman DS, Rademakers R, Hutton M, Adamson J, Kuntz KM, Dickson DW, Parisi JE, Smith GE, Petersen RC. Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Archives of Neurology. 67: 171-7. PMID 20142525 DOI: 10.1001/archneurol.2010.113  1
2009 Kelley BJ, Haidar W, Boeve BF, Baker M, Graff-Radford NR, Krefft T, Frank AR, Jack CR, Shiung M, Knopman DS, Josephs KA, Parashos SA, Rademakers R, Hutton M, Pickering-Brown S, et al. Prominent phenotypic variability associated with mutations in Progranulin. Neurobiology of Aging. 30: 739-51. PMID 17949857 DOI: 10.1016/j.neurobiolaging.2007.08.022  1
2008 Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, ... ... Rademakers R, et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. Plos Genetics. 4: e1000193. PMID 18802454 DOI: 10.1371/journal.pgen.1000193  1
2008 Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, et al. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Human Molecular Genetics. 17: 3631-42. PMID 18723524 DOI: 10.1093/hmg/ddn257  1
2008 Coppola G, Karydas A, Rademakers R, Wang Q, Baker M, Hutton M, Miller BL, Geschwind DH. Gene expression study on peripheral blood identifies progranulin mutations. Annals of Neurology. 64: 92-6. PMID 18551524 DOI: 10.1002/ana.21397  1
2008 Wider C, Uitti RJ, Wszolek ZK, Fang JY, Josephs KA, Baker MC, Rademakers R, Hutton ML, Dickson DW. Progranulin gene mutation with an unusual clinical and neuropathologic presentation. Movement Disorders : Official Journal of the Movement Disorder Society. 23: 1168-73. PMID 18442119 DOI: 10.1002/mds.22065  1
2007 Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, et al. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. The Lancet. Neurology. 6: 857-68. PMID 17826340 DOI: 10.1016/S1474-4422(07)70221-1  1
2007 Rademakers R, Hutton M. The genetics of frontotemporal lobar degeneration. Current Neurology and Neuroscience Reports. 7: 434-42. PMID 17764635 DOI: 10.1007/s11910-007-0067-6  1
2007 Davion S, Johnson N, Weintraub S, Mesulam MM, Engberg A, Mishra M, Baker M, Adamson J, Hutton M, Rademakers R, Bigio EH. Clinicopathologic correlation in PGRN mutations. Neurology. 69: 1113-21. PMID 17522386 DOI: 10.1212/01.wnl.0000267701.58488.69  1
2007 Dickson DW, Rademakers R, Hutton ML. Progressive supranuclear palsy: pathology and genetics. Brain Pathology (Zurich, Switzerland). 17: 74-82. PMID 17493041 DOI: 10.1111/j.1750-3639.2007.00054.x  1
2007 Schymick JC, Yang Y, Andersen PM, Vonsattel JP, Greenway M, Momeni P, Elder J, Chiò A, Restagno G, Robberecht W, Dahlberg C, Mukherjee O, Goate A, Graff-Radford N, Caselli RJ, ... ... Rademakers R, et al. Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes. Journal of Neurology, Neurosurgery, and Psychiatry. 78: 754-6. PMID 17371905 DOI: 10.1136/jnnp.2006.109553  1
2007 Whitwell JL, Jack CR, Baker M, Rademakers R, Adamson J, Boeve BF, Knopman DS, Parisi JF, Petersen RC, Dickson DW, Hutton ML, Josephs KA. Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations. Archives of Neurology. 64: 371-6. PMID 17353379 DOI: 10.1001/archneur.64.3.371  1
2007 Josephs KA, Ahmed Z, Katsuse O, Parisi JF, Boeve BF, Knopman DS, Petersen RC, Davies P, Duara R, Graff-Radford NR, Uitti RJ, Rademakers R, Adamson J, Baker M, Hutton ML, et al. Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations. Journal of Neuropathology and Experimental Neurology. 66: 142-51. PMID 17278999 DOI: 10.1097/nen.0b013e31803020cf  1
2006 Mackenzie IR, Baker M, Pickering-Brown S, Hsiung GY, Lindholm C, Dwosh E, Gass J, Cannon A, Rademakers R, Hutton M, Feldman HH. The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene. Brain : a Journal of Neurology. 129: 3081-90. PMID 17071926 DOI: 10.1093/brain/awl271  1
2006 Boeve BF, Baker M, Dickson DW, Parisi JE, Giannini C, Josephs KA, Hutton M, Pickering-Brown SM, Rademakers R, Tang-Wai D, Jack CR, Kantarci K, Shiung MM, Golde T, Smith GE, et al. Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study. Brain : a Journal of Neurology. 129: 3103-14. PMID 17030535 DOI: 10.1093/brain/awl268  1
2006 Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, ... ... Rademakers R, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Human Molecular Genetics. 15: 2988-3001. PMID 16950801 DOI: 10.1093/hmg/ddl241  1
2006 Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, Snowden J, Adamson J, Sadovnick AD, Rollinson S, Cannon A, Dwosh E, Neary D, Melquist S, Richardson A, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 442: 916-9. PMID 16862116 DOI: 10.1038/nature05016  1
2005 Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, et al. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Human Molecular Genetics. 14: 3281-92. PMID 16195395 DOI: 10.1093/hmg/ddi361  1
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