Rosa Rademakers, Ph.D. - Publications

Neuroscience Mayo Clinic Jacksonville, Jacksonville, FL, United States 

130 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, 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
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 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 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 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 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 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 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 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 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
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. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits Science. 348: 1151-1154. DOI: 10.1126/science.aaa9344  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 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 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 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
2011 Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathologica. 122: 673-90. PMID 22083254 DOI: 10.1007/S00401-011-0907-Y  1
2011 Whitwell JL, Weigand SD, Gunter JL, Boeve BF, Rademakers R, Baker M, Knopman DS, Wszolek ZK, Petersen RC, Jack CR, Josephs KA. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. Neurology. 77: 393-8. PMID 21753165 DOI: 10.1212/WNL.0b013e318227047f  1
2011 Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, ... ... Rademakers R, et al. Ataxin-2 repeat-length variation and neurodegeneration. Human Molecular Genetics. 20: 3207-12. PMID 21610160 DOI: 10.1093/Hmg/Ddr227  1
2010 Carrasquillo MM, Nicholson AM, Finch N, Gibbs JR, Baker M, Rutherford NJ, Hunter TA, DeJesus-Hernandez M, Bisceglio GD, Mackenzie IR, Singleton A, Cookson MR, Crook JE, Dillman A, Hernandez D, ... ... Rademakers R, et al. Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. American Journal of Human Genetics. 87: 890-7. PMID 21087763 DOI: 10.1016/J.Ajhg.2010.11.002  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 Caselli RJ, Dueck AC, Osborne D, Sabbagh MN, Connor DJ, Ahern GL, Baxter LC, Rapcsak SZ, Shi J, Woodruff BK, Locke DE, Snyder CH, Alexander GE, Rademakers R, Reiman EM. Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. The New England Journal of Medicine. 361: 255-63. PMID 19605830 DOI: 10.1056/Nejmoa0809437  1
2009 Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, ... ... Rademakers R, et al. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 72: 2024-8. PMID 19506225 DOI: 10.1212/Wnl.0B013E3181A92C4C  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
2005 Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. American Journal of Human Genetics. 77: 643-52. PMID 16175510 DOI: 10.1086/491749  1
2005 Cruts M, Rademakers R, Gijselinck I, van der Zee J, Dermaut B, de Pooter T, de Rijk P, Del-Favero J, van Broeckhoven C. Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region. Human Molecular Genetics. 14: 1753-62. PMID 15888485 DOI: 10.1093/Hmg/Ddi182  1
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