Faculty

Rosa Rademakers, Ph.D.

Publications

Borrego-Ecija S, Junca-Parella J, Vandebergh M, Perez Millan A, Balasa M, Llado A, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, Van Swieten JC, Jiskoot LC, Seelaar H, Laforce R Jr, Graff C, Galimberti D, Vandenberghe R, de Mendonca A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler C, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rademakers R, Rohrer JD, Sanchez-Valle R, Genetic Frontotemporal Initiative (GENFI). Association of Initial Side of Brain Atrophy With Clinical Features and Disease Progression in Patients With GRN Frontotemporal Dementia. Neurology. 2024 Dec 10; 103 (11):e209944 Epub 2024 Nov 11
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Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Hoglinger GU, Muller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH, Crary JF, Naj A, PSP Genetics Study Group. Author Correction: Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. Nat Commun. 2024 Nov 13; 15 (1):9828
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Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber DE, Staffaroni AM, Geschwind DH, Wolf AA, Kantarci K, Gendron T, Petrucelli L, Van den Broeck M, Wynants S, Baker M, Borrego-Ecija S, Appleby B, Barmada S, Bozoki AC, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko D, Ghoshal N, Graff-Radford NR, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin DJ, Knopman DS, Kwan JY, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Pressman PS, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R, ALLFTD Consortium. Gene-Specific Effects on Brain Volume and Cognition of TMEM106B in Frontotemporal Lobar Degeneration. Neurology. 2024 Oct 22; 103 (8):e209832 Epub 2024 Sept 25
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Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yebenes JG, Rabano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Muller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dalgard C, Dickson DW, Hoglinger GU, Schellenberg GD, Geschwind DH, Lee WP, P. S. P. genetics study group. Correction: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. Mol Neurodegener. 2024 Oct 14; 19 (1):73
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Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J, CReATe Consortium PGB1 Study Investigators. Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression: validation and implications for clinical trial design and analysis. EBioMedicine. 2024 Oct; 108:105323 Epub 2024 Sept 12
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Farrell K, Humphrey J, Chang T, Zhao Y, Leung YY, Kuksa PP, Patil V, Lee WP, Kuzma AB, Valladares O, Cantwell LB, Wang H, Ravi A, De Sanctis C, Han N, Christie TD, Afzal R, Kandoi S, Whitney K, Krassner MM, Ressler H, Kim S, Dangoor D, Iida MA, Casella A, Walker RH, Nirenberg MJ, Renton AE, Babrowicz B, Coppola G, Raj T, Hoglinger GU, Muller U, Golbe LI, Morris HR, Hardy J, Revesz T, Warner TT, Jaunmuktane Z, Mok KY, Rademakers R, Dickson DW, Ross OA, Wang LS, Goate A, Schellenberg G, Geschwind DH, Crary JF, Naj A, PSP Genetics Study Group. Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes. Nat Commun. 2024 Sep 9; 15 (1):7880 Epub 2024 Sept 09
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Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, de Yebenes JG, Rabano-Gutierrez A, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Muller U, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, White CL 3rd, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dalgard C, Dickson DW, Hoglinger GU, Schellenberg GD, Geschwind DH, Lee WP, P. S. P. genetics study group. Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy. Mol Neurodegener. 2024 Aug 16; 19 (1):61
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Benatar M, Macklin EA, Malaspina A, Rogers ML, Hornstein E, Lombardi V, Renfrey D, Shepheard S, Magen I, Cohen Y, Granit V, Statland JM, Heckmann JM, Rademakers R, McHutchison CA, Petrucelli L, McMillan CT, Wuu J. Prognostic Clinical and Biological Markers for Amyotrophic Lateral Sclerosis Disease Progression: Validation and Implications for Clinical Trial Design and Analysis. medRxiv. 2024 Aug 13
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Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, Benussi L, Bessi V, Binetti G, Blackburn DJ, Boada M, Boeve BF, Borrego-Ecija S, Borroni B, Brathen G, Brooks WS, Bruni AC, Caroppo P, Bandres-Ciga S, Clarimon J, Colao R, Cruchaga C, Danek A, de Boer SC, de Rojas I, di Costanzo A, Dickson DW, Diehl-Schmid J, Dobson-Stone C, Dols-Icardo O, Donizetti A, Dopper E, Durante E, Ferrari C, Forloni G, Frangipane F, Fratiglioni L, Kramberger MG, Galimberti D, Gallucci M, Garcia-Gonzalez P, Ghidoni R, Giaccone G, Graff C, Graff-Radford NR, Grafman J, Halliday GM, Hernandez DG, Hjermind LE, Hodges JR, Holloway G, Huey ED, Illan-Gala I, Josephs KA, Knopman DS, Kristiansen M, Kwok JB, Leber I, Leonard HL, Libri I, Lleo A, Mackenzie IR, Madhan GK, Maletta R, Marquie M, Maver A, Menendez-Gonzalez M, Milan G, Miller BL, Morris CM, Morris HR, Nacmias B, Newton J, Nielsen JE, Nilsson C, Novelli V, Padovani A, Pal S, Pasquier F, Pastor P, Perneczky R, Peterlin B, Petersen RC, Piguet O, Pijnenburg YA, Puca AA, Rademakers R, Rainero I, Reus LM, Richardson AM, Riemenschneider M, Rogaeva E, Rogelj B, Rollinson S, Rosen H, Rossi G, Rowe JB, Rubino E, Ruiz A, Salvi E, Sanchez-Valle R, Sando SB, Santillo AF, Saxon JA, Schlachetzki JC, Scholz SW, Seelaar H, Seeley WW, Serpente M, Sorbi S, Sordon S, St George-Hyslop P, Thompson JC, Van Broeckhoven C, Van Deerlin VM, Van der Lee SJ, Van Swieten J, Tagliavini F, van der Zee J, Veronesi A, Vitale E, Waldo ML, Yokoyama JS, Nalls MA, Momeni P, Singleton AB, Hardy J, Escott-Price V. Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia. Am J Hum Genet. 2024 Jul 11; 111 (7):1316-1329 Epub 2024 June 17
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Garcia-Guaqueta DP, Botha H, Utianski RL, Duffy JR, Clark HM, Goodrich AW, Pham NTT, Machulda MM, Baker M, Rademakers R, Whitwell JL, Josephs KA. Progression to corticobasal syndrome: a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech. J Neurol. 2024 Jul; 271 (7):4168-4179 Epub 2024 Apr 07
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Valentino RR, Scotton WJ, Roemer SF, Lashley T, Heckman MG, Shoai M, Martinez-Carrasco A, Tamvaka N, Walton RL, Baker MC, Macpherson HL, Real R, Soto-Beasley AI, Mok K, Revesz T, Christopher EA, DeTure M, Seeley WW, Lee EB, Frosch MP, Molina-Porcel L, Gefen T, Redding-Ochoa J, Ghetti B, Robinson AC, Kobylecki C, Rowe JB, Beach TG, Teich AF, Keith JL, Bodi I, Halliday GM, Gearing M, Arzberger T, Morris CM, White CL 3rd, Mechawar N, Boluda S, MacKenzie IR, McLean C, Cykowski MD, Wang SJ, Graff C, Nagra RM, Kovacs GG, Giaccone G, Neumann M, Ang LC, Carvalho A, Morris HR, Rademakers R, Hardy JA, Dickson DW, Rohrer JD, Ross OA, Pick's disease International Consortium. MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium: a genetic association study. Lancet Neurol. 2024 May; 23 (5):487-499
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Udine E, DeJesus-Hernandez M, Tian S, das Neves SP, Crook R, Finch NA, Baker MC, Pottier C, Graff-Radford NR, Boeve BF, Petersen RC, Knopman DS, Josephs KA, Oskarsson B, Da Mesquita S, Petrucelli L, Gendron TF, Dickson DW, Rademakers R, van Blitterswijk M. Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion. Acta Neuropathol. 2024 Apr 19; 147 (1):73
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Corriveau-Lecavalier N, Barnard LR, Botha H, Graff-Radford J, Ramanan VK, Lee J, Dicks E, Rademakers R, Boeve BF, Machulda MM, Fields JA, Dickson DW, Graff-Radford N, Knopman DS, Lowe VJ, Petersen RC, Jack CR Jr, Jones DT. Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases. Brain. 2024 Apr 4; 147 (4):1483-1496
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Brushaber D, Dickson D, Gavrilova R, Gendron T, Goldman J, Graff-Radford J, Huang E, Johnson N, Kantarci K, Knopman D, Petrucelli L, Rademakers R, Savica R, Tipton PW, Wszolek ZK, Botha H, Staffaroni AM, Clark AL, Taylor JC, Heuer HW, Sanderson-Cimino M, Wise AB, Dhanam S, Cobigo Y, Wolf A, Manoochehri M, Forsberg L, Mester C, Rankin KP, Appleby BS, Bayram E, Bozoki A, Clark D, Darby RR, Domoto-Reilly K, Fields JA, Galasko D, Geschwind D, Ghoshal N, Graff-Radford N, Grossman M, Hsiung GY, Huey ED, Jones DT, Lapid MI, Litvan I, Masdeu JC, Massimo L, Mendez MF, Miyagawa T, Pascual B, Pressman P, Ramanan VK, Ramos EM, Rascovsky K, Roberson ED, Tartaglia MC, Wong B, Miller BL, Kornak J, Kremers W, Hassenstab J, Kramer JH, Boeve BF, Rosen HJ, Boxer AL, ALLFTD Consortium. Reliability and Validity of Smartphone Cognitive Testing for Frontotemporal Lobar Degeneration. JAMA Netw Open. 2024 Apr 1; 7 (4):e244266 Epub 2024 Apr 01
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Carlos AF, Koga S, Graff-Radford NR, Baker MC, Rademakers R, Ross OA, Dickson DW, Josephs KA. Senile plaque-associated transactive response DNA-binding protein 43 in Alzheimer's disease: A case report spanning 16 years of memory loss. Neuropathology. 2024 Apr; 44 (2):115-125 Epub 2023 July 31
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Milioto C, Carcole M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nat Neurosci. 2024 Apr; 27 (4):643-655 Epub 2024 Feb 29
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Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sanchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gomez-Tortosa E, Aguero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Brathen G, Sando SB, Grontvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gomez-Nunez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Duraes J, Lima M, Tabuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleo A, Fortea J, Alcolea D, Illan-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors. Alzheimers Res Ther. 2024 Mar 28; 16 (1):66
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Corriveau-Lecavalier N, Tosakulwong N, Lesnick TG, Fought AJ, Reid RI, Schwarz CG, Senjem ML, Jack CR Jr, Jones DT, Vemuri P, Rademakers R, Ramos EM, Geschwind DH, Knopman DS, Botha H, Savica R, Graff-Radford J, Ramanan VK, Fields JA, Graff-Radford N, Wszolek Z, Forsberg LK, Petersen RC, Heuer HW, Boxer AL, Rosen HJ, Boeve BF, Kantarci K, ALLFTD consortium. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium. Neurobiol Aging. 2024 Feb; 134:135-145 Epub 2023 Dec 10
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Badihian N, Ali F, Botha H, Savica R, Machulda MM, Clark HM, Stierwalt JAG, Pham NTT, Baker MC, Rademakers R, Lowe V, Whitwell JL, Josephs KA. The MAPT p.E342K and p.R406W mutations are associated with progressive supranuclear palsy with atypical features. Parkinsonism Relat Disord. 2024 Feb; 119:105962 Epub 2023 Dec 17
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Pressman PS, Carter DJ, Ramos EM, Molden J, Smith K, Dino F, McMillan C, Irwin D, Rascovsky K, Ghoshal N, Knudtson M, Rademakers R, Geschwind D, Gendron T, Petrucelli L, Heuer H, Boeve BF, Barmada S, Boxer A, Tempini MLG, Rosen HJ. Symptomatic progression of frontotemporal dementia with the TARDBP I383V variant. Neurocase. 2024 Feb; 30 (1):39-47 Epub 2024 May 17
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Corriveau-Lecavalier N, Barnard LR, Przybelski SA, Gogineni V, Botha H, Graff-Radford J, Ramanan VK, Forsberg LK, Fields JA, Machulda MM, Rademakers R, Gavrilova RH, Lapid MI, Boeve BF, Knopman DS, Lowe VJ, Petersen RC, Jack CR, Kantarci K, Jones DT. Assessing network degeneration and phenotypic heterogeneity in genetic frontotemporal lobar degeneration by decoding FDG-PET. Neuroimage Clin. 2024; 41:103559 Epub 2023 Dec 22
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Wang H, Chang TS, Dombroski BA, Cheng PL, Patil V, Valiente-Banuet L, Farrell K, Mclean C, Molina-Porcel L, Rajput A, De Deyn PP, Le Bastard N, Gearing M, Kaat LD, Van Swieten JC, Dopper E, Ghetti BF, Newell KL, Troakes C, Meller T, Oertel WH, Respondek G, Stamelou M, Arzberger T, Roeber S, Hopfner F, Pastor P, Brice A, Durr A, Le Ber I, Beach TG, Serrano GE, Hazrati LN, Litvan I, Rademakers R, Ross OA, Galasko D, Boxer AL, Miller BL, Seeley WW, Van Deerlin VM, Lee EB, Morris H, de Silva R, Crary JF, Goate AM, Friedman JS, Leung YY, Coppola G, Naj AC, Wang LS, Dalgard C, Dickson DW, Schellenberg GD, Geschwind DH, Lee WP. Correction to: Whole-genome sequencing analysis reveals new susceptibility loci and structural variants associated with progressive supranuclear palsy (Molecular Neurodegeneration, (2024), 19, 1, (61), 10.1186/s13024-024-00747-3). Molecular Neurodegeneration. 2024; 19 (1):73
T Vicente C, Perneel J, Wynants S, Heeman B, Van den Broeck M, Baker M, Cheung S, Faura J, Mackenzie IRA, Rademakers R. C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes. Brain. 2023 Oct 3; 146 (10):4055-4064
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Grossman M, Seeley WW, Boxer AL, Hillis AE, Knopman DS, Ljubenov PA, Miller B, Piguet O, Rademakers R, Whitwell JL, Zetterberg H, van Swieten JC. Frontotemporal lobar degeneration. Nat Rev Dis Primers. 2023 Aug 10; 9 (1):40
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Monnakgotla NR, Mahungu AC, Heckmann JM, Botha G, Mulder NJ, Wu G, Rampersaud E, Myers J, Van Blitterswijk M, Rademakers R, Taylor JP, Wuu J, Benatar M, Nel M. Analysis of Structural Variants Previously Associated With ALS in Europeans Highlights Genomic Architectural Differences in Africans. Neurol Genet. 2023 Aug; 9 (4):e200077 Epub 2023 June 16
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Matchett BJ, Lincoln SJ, Baker M, Tamvaka N, Labuzan SA, Hicks Sirmans TN, Moloney CM, Helminger J, Hinkle KM, Cabrera-Rodriguez J, Wickland DP, Johnson PW, Heckman MG, Reddy JS, Younkin SG, Carrasquillo MM, Duara R, Graff-Radford NR, Pottier C, Ertekin-Taner N, Ross OA, Rademakers R, Dickson DW, Murray ME. The SERPINA5 coding variant E228Q does not contribute to clinicopathologic characteristics in Alzheimer's disease: A cross-sectional study. Medicine (Baltimore). 2023 Jun 16; 102 (24):e34017
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Meneses AD, Koga S, Li Z, O'Leary J, Li F, Chen K, Murakami A, Qiao W, Kurti A, Heckman MG, White L, Xie M, Chen Y, Finch NA, Lim MJ, Delenclos M, DeTure MA, Linares C, Martin NB, Ikezu TC, van Blitterswijk MM, Wu LJ, McLean PJ, Rademakers R, Ross OA, Dickson DW, Bu G, Zhao N. APOE2 Exacerbates TDP-43 Related Toxicity in the Absence of Alzheimer Pathology. Ann Neurol. 2023 Apr; 93 (4):830-843 Epub 2023 Jan 10
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Perneel J, Neumann M, Heeman B, Cheung S, Van den Broeck M, Wynants S, Baker M, Vicente CT, Faura J, Rademakers R, Mackenzie IRA. Correction to: Accumulation of TMEM106B Câ€‘terminal fragments in neurodegenerative disease and aging. Acta Neuropathol. 2023 Mar; 145 (3):369-370
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Perneel J, Neumann M, Heeman B, Cheung S, Van den Broeck M, Wynants S, Baker M, Vicente CT, Faura J, Rademakers R, Mackenzie IRA. Accumulation of TMEM106B C-terminal fragments in neurodegenerative disease and aging. Acta Neuropathol. 2023 Mar; 145 (3):285-302 Epub 2022 Dec 17
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Oatman SR, Reddy JS, Quicksall Z, Carrasquillo MM, Wang X, Liu CC, Yamazaki Y, Nguyen TT, Malphrus K, Heckman M, Biswas K, Nho K, Baker M, Martens YA, Zhao N, Kim JP, Risacher SL, Rademakers R, Saykin AJ, DeTure M, Murray ME, Kanekiyo T, Dickson DW, Bu G, Allen M, Ertekin-Taner N, Alzheimer's Disease Neuroimaging Initiative. Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer's disease related proteins. Mol Neurodegener. 2023 Jan 7; 18 (1):2 Epub 2023 Jan 07
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Josephs KA, Koga S, Tosakulwong N, Weigand SD, Nha Pham TT, Baker M, Whitwell JL, Rademakers R, Petrucelli L, Dickson DW. Molecular fragment characteristics and distribution of tangle associated TDP-43 (TATs) and other TDP-43 lesions in Alzheimer's disease. Free Neuropathol. 2023 Jan; 4 Epub 2023 Dec 08
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Carlos AF, Machulda MM, Rutledge MH, Nguyen AT, Reichard RR, Baker MC, Rademakers R, Dickson DW, Petersen RC, Josephs KA. Comparison of Clinical, Genetic, and Pathologic Features of Limbic and Diffuse Transactive Response DNA-Binding Protein 43 Pathology in Alzheimer's Disease Neuropathologic Spectrum. J Alzheimers Dis. 2023; 93 (4):1521-1535
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Lee H, Mackenzie IRA, Beg MF, Popuri K, Rademakers R, Wittenberg D, Hsiung GR. White-matter abnormalities in presymptomatic GRN and C9orf72 mutation carriers. Brain Commun. 2023; 5 (1):fcac333 Epub 2022 Dec 19
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Perneel J, Manoochehri M, Huey ED, Rademakers R, Goldman J. Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family. Front Neurol. 2023; 14:1160248 Epub 2023 Apr 03
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Singh NA, Graff-Radford J, Machulda MM, Schwarz CG, Baker MC, Rademakers R, Ertekin-Taner N, Lowe VJ, Josephs KA, Whitwell JL. Atypical Alzheimer's disease phenotypes with normal or borderline PET biomarker profiles. J Neurol. 2022 Dec; 269(12):6613-6626. Epub 2022 Aug 24.
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Staffaroni AM, Quintana M, Wendelberger B, Heuer HW, Russell LL, Cobigo Y, Wolf A, Goh SM, Petrucelli L, Gendron TF, Heller C, Clark AL, Taylor JC, Wise A, Ong E, Forsberg L, Brushaber D, Rojas JC, VandeVrede L, Ljubenkov P, Kramer J, Casaletto KB, Appleby B, Bordelon Y, Botha H, Dickerson BC, Domoto-Reilly K, Fields JA, Foroud T, Gavrilova R, Geschwind D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Hall MGH, Hsiung GY, Huey ED, Irwin D, Jones DT, Kantarci K, Kaufer D, Knopman D, Kremers W, Lago AL, Lapid MI, Litvan I, Lucente D, Mackenzie IR, Mendez MF, Mester C, Miller BL, Onyike CU, Rademakers R, Ramanan VK, Ramos EM, Rao M, Rascovsky K, Rankin KP, Roberson ED, Savica R, Tartaglia MC, Weintraub S, Wong B, Cash DM, Bouzigues A, Swift IJ, Peakman G, Bocchetta M, Todd EG, Convery RS, Rowe JB, Borroni B, Galimberti D, Tiraboschi P, Masellis M, Finger E, van Swieten JC, Seelaar H, Jiskoot LC, Sorbi S, Butler CR, Graff C, Gerhard A, Langheinrich T, Laforce R, Sanchez-Valle R, de Mendonca A, Moreno F, Synofzik M, Vandenberghe R, Ducharme S, Le Ber I, Levin J, Danek A, Otto M, Pasquier F, Santana I, Kornak J, Boeve BF, Rosen HJ, Rohrer JD, Boxer AL, Frontotemporal Dementia Prevention Initiative (FPI) Investigators. Temporal order of clinical and biomarker changes in familial frontotemporal dementia. Nat Med. 2022 Oct; 28 (10):2194-2206 Epub 2022 Sept 22
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Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK, ALLFTD Consortium. Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology. 2022 Sep 13; 99 (11):e1154-e1167 Epub 2022 July 05
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Reho P, Koga S, Shah Z, Chia R, Rademakers R, Dalgard CL, Boeve BF, Beach TG, Dickson DW, Ross OA, Scholz SW, International LBD Genomics Consortium//American Genome Center. GRN Mutations Are Associated with Lewy Body Dementia. Mov Disord. 2022 Sep; 37 (9):1943-1948 Epub 2022 July 10
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Pottier C, Mateiu L, Baker MC, DeJesus-Hernandez M, Teixeira Vicente C, Finch NA, Tian S, van Blitterswijk M, Murray ME, Ren Y, Petrucelli L, Oskarsson B, Biernacka JM, Graff-Radford NR, Boeve BF, Petersen RC, Josephs KA, Asmann YW, Dickson DW, Rademakers R. Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations. Brain. 2022 Jul 29; 145 (7):2472-2485
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Kawles A, Nishihira Y, Feldman A, Gill N, Minogue G, Keszycki R, Coventry C, Spencer C, Lilek J, Ajroud K, Coppola G, Rademakers R, Rogalski E, Weintraub S, Zhang H, Flanagan ME, Bigio EH, Mesulam MM, Geula C, Mao Q, Gefen T. Cortical and subcortical pathological burden and neuronal loss in an autopsy series of FTLD-TDP-type C. Brain. 2022 Apr 29; 145 (3):1069-1078
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Nicholson AM, Finch NA, Wojtas A, Baker MC, Perkerson RB 3rd, Castanedes-Casey M, Rousseau L, Benussi L, Binetti G, Ghidoni R, Hsiung GY, Mackenzie IR, Finger E, Boeve BF, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R. TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia. J Neurochem. 2013 Sep; 126 (6):781-91 Epub 2013 July 01
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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, Boxer AL, Rosen HJ, Kramer JH, Coppola G, Geschwind DH, Rademakers R, Seeley WW, Wyss-Coray T, Miller BL. TDP-43 frontotemporal lobar degeneration and autoimmune disease. J Neurol Neurosurg Psychiatry. 2013 Sep; 84 (9):956-62 Epub 2013 Mar 30
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McDade EM, Boeve BF, Fields JA, Kumar N, Rademakers R, Baker MC, Knopman BD, Petersen RC, Jack CR Jr, Kantarci K. MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene. J Neuroimaging. 2013 Jul; 23(3):409-13. Epub 2012 May 21.
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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. 2013 May 28; 80 (22):2076-8 Epub 2013 May 01
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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. 2013 May 7; 80 (19):1771-7 Epub 2013 Apr 17
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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. 2013 Apr; 33(2):122-33. Epub 2012 Jun 18.
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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, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28; 495(7442):467-73. Epub 2013 Mar 03.
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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. 2013 Mar 12; 80 (11):1033-40 Epub 2013 Feb 13
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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 Relat Disord. 2013 Mar; 19 (3):312-5 Epub 2012 Dec 08
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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, Boeve BF. Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Mar; 14 (2):132-7 Epub 2012 Oct 04
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Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilarino-Guell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol. 2013 Mar; 125 (3):425-38 Epub 2012 Nov 04
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Ash PE, Bieniek KF, Gendron TF, Caulfield T, Lin WL, Dejesus-Hernandez M, van Blitterswijk MM, Jansen-West K, Paul JW 3rd, Rademakers R, Boylan KB, Dickson DW, Petrucelli L. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron. 2013 Feb 20; 77 (4):639-46 Epub 2013 Feb 12
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Josephs KA, Whitwell JL, Murray ME, Parisi JE, Graff-Radford NR, Knopman DS, Boeve BF, Senjem ML, Rademakers R, Jack CR Jr, Petersen RC, Dickson DW. Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia. Brain. 2013 Feb; 136 (Pt 2):455-70 Epub 2013 Jan 28
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Rademakers R, van Blitterswijk M. Motor neuron disease in 2012: Novel causal genes and disease modifiers. Nat Rev Neurol. 2013 Feb; 9 (2):63-4 Epub 2013 Jan 15
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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 Neuropathol. 2013 Feb; 125 (2):289-302 Epub 2012 Sept 28
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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 Relat Disord. 2013 Feb; 19 (2):198-201 Epub 2012 Oct 18
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Whitwell JL, Xu J, Mandrekar J, Boeve BF, Knopman DS, Parisi JE, Senjem ML, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA. Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlates. Neurobiol Aging. 2013 Feb; 34 (2):636-9 Epub 2012 Apr 11
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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, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J, Alzheimer Genetic Analysis Group. TREM2 variants in Alzheimer's disease. N Engl J Med. 2013 Jan 10; 368 (2):117-27 Epub 2012 Nov 14
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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. J Alzheimers Dis. 2013; 33(1):69-76.
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Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. J Alzheimers Dis. 2013; 33 Suppl 1:S35-45
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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. Proc Natl Acad Sci U S A. 2012 Dec 26; 109 (52):21510-5 Epub 2012 Dec 10
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van Blitterswijk M, DeJesus-Hernandez M, Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol. 2012 Dec; 25 (6):689-700
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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, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012 Dec; 33 (12):2950.e5-7 Epub 2012 July 26
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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 Neuropathol. 2012 Nov; 124(5):733-47. Epub 2012 Sep 01.
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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. Mol Neurodegener. 2012 Oct 10; 7:53
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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. Mov Disord 2012 Oct; 27 (12):1578-9 Epub 2012 Oct 04
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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, Seeley W, Miller BL, Boxer AL. Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features. Neurology. 2012 Sep 4; 79(10):1002-11. Epub 2012 Aug 08.
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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. Arch Neurol. 2012 Sep; 69(9):1149-53.
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Kandiah N, Sengdy P, Mackenzie IRA, Hsiung GR, DeJesus-Hernandez M, Rademakers R. Rapidly progressive dementia in a Chinese patient due to C9ORF72 mutation. The Canadian Journal of Neurological Sciences/ Le Journal Canadien Des Sciences Neurologiques. 2012 Sep; 39(5):676-7.
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. Arch Neurol. 2012 Sep; 69 (9):1164-9
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Duker AP, Espay AJ, Wszolek ZK, Rademakers R, Dickson DW, Kelley BJ. Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist. 2012 Sep; 18(5):266-72.
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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. 2012 Aug 14; 79 (7):717-8 Epub 2012 Aug 01
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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, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012 Aug 7; 79 (6):566-74 Epub 2012 July 25
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Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012 Aug; 8 (8):423-34 Epub 2012 June 26
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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, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH, Alzheimer's Disease Genetics Consortium. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012 Aug 1; 21 (15):3500-12 Epub 2012 May 03
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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. 2012 Jul 31; 79 (5):482-3 Epub 2012 July 18
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Gass J, Lee WC, Cook C, Finch N, Stetler C, Jansen-West K, Lewis J, Link CD, Rademakers R, Nykjaer A, Petrucelli L. Progranulin regulates neuronal outgrowth independent of sortilin. Mol Neurodegener. 2012 Jul 10; 7:33 Epub 2012 July 10
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Rayaprolu S, Soto-Ortolaza A, Rademakers R, Uitti RJ, Wszolek ZK, Ross OA. Angiogenin variation and Parkinson disease. Ann Neurol 2012 May; 71 (5):725-7; author reply 727-8
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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. 2012 Apr 17; 78 (16):1245-9 Epub 2012 Apr 04
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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, Rosen HJ, Rabinovici GD, Seeley WW, Rankin KP, Boxer AL, Miller BL. Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion. J Neurol Neurosurg Psychiatry. 2012 Apr; 83(4):358-64.
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Wider C, Ross OA, Nishioka K, Heckman MG, Vilarino-Guell C, Jasinska-Myga B, Erketin-Taner N, Rademakers R, Graff-Radford NR, Mash DC, Papapetropoulos S, Duara R, Uchikado H, Wszolek ZK, Farrer MJ, Dickson DW. An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry. 2012 Apr; 83 (4):424-9 Epub 2012 Jan 30
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Sundal C, Lash J, Aasly J, Oygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci. 2012 Mar 15; 314 (1-2):130-7 Epub 2011 Nov 01
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Hsiung GY, DeJesus-Hernandez M, Feldman HH, Sengdy P, Bouchard-Kerr P, Dwosh E, Butler R, Leung B, Fok A, Rutherford NJ, Baker M, Rademakers R, Mackenzie IR. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain. 2012 Mar; 135(Pt 3):709-22. Epub 2012 Feb 17.
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Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, Baker M, Fok A, DeJesus-Hernandez M, Eisen A, Rademakers R, Mackenzie IR. Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neuropathol. 2012 Mar; 123(3):409-17. Epub 2012 Jan 07.
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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 Jr, Josephs KA. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012 Mar; 135 (Pt 3):794-806
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Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar; 135 (Pt 3):765-83
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Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R. Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Feb; 33 (2):424.e23-4 Epub 2010 Nov 12
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Nicholson AM, Gass J, Petrucelli L, Rademakers R. Progranulin axis and recent developments in frontotemporal lobar degeneration. Alzheimers Res Ther. 2012 Jan 23; 4 (1):4
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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 Diseases. 2012; 1: (1)107-18.
Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43. Advances in Alzheimer's Disease. 2012; 3:35-45.
Lee SE, Seeley WW, Poorzand P, Rademakers R, Karydas A, Stanley CM, Miller BL, Rankin KP. Clinical characterization of bvFTD due to FUS neuropathology. Neurocase. 2012; 18(4):305-17. Epub 2011 Nov 07.
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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. Am J Neurodegener Dis. 2012; 1 (1):107-18 Epub 2012 May 16
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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 Med Genet. 2012; 13:16. Epub 2012 Mar 17.
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Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, Myllykangas L, Chio A, Shatunov A, Boeve BF, Boxer AL, DeJesus-Hernandez M, Mackenzie IR, Waite A, Williams N, Morris HR, Simon-Sanchez J, van Swieten JC, Heutink P, Restagno G, Mora G, Morrison KE, Shaw PJ, Rollinson PS, Al-Chalabi A, Rademakers R, Pickering-Brown S, Orrell RW, Nalls MA, Hardy J. Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging. 2012 Jan; 33(1):209.e3-8. Epub 2011 Sep 16.
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Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD. A yeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci U S A. 2011 Dec 27; 108 (52):20881-90 Epub 2011 Nov 07
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Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25; 44 (2):200-5
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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 Neuropathol. 2011 Dec; 122 (6):673-90 Epub 2011 Nov 15
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Kouri N, Murray ME, Hassan A, Rademakers R, Uitti RJ, Boeve BF, Graff-Radford NR, Wszolek ZK, Litvan I, Josephs KA, Dickson DW. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain. 2011 Nov; 134 (Pt 11):3264-75 Epub 2011 Sept 20
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Dopper EG, Seelaar H, Chiu WZ, de Koning I, van Minkelen R, Baker MC, Rozemuller AJ, Rademakers R, van Swieten JC. Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation. J Mol Neurosci. 2011 Nov; 45(3):354-8. Epub 2011 Aug 24.
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Nicholson AM, Finch NA, Rademakers R. Human genetics as a tool to identify progranulin regulators. J Mol Neurosci. 2011 Nov; 45 (3):532-7 Epub 2011 May 28
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Kocerha J, Kouri N, Baker M, Finch N, DeJesus-Hernandez M, Gonzalez J, Chidamparam K, Josephs KA, Boeve BF, Graff-Radford NR, Crook J, Dickson DW, Rademakers R. Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutations. BMC Genomics. 2011 Oct 27; 12:527
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DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct 20; 72 (2):245-56 Epub 2011 Sept 21
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Pao WC, Dickson DW, Crook JE, Finch NA, Rademakers R, Graff-Radford NR. Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinically. Alzheimer Dis Assoc Disord. 2011 Oct-Dec; 25 (4):364-8
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DeJesus-Hernandez M, Desaro P, Johnston A, Ross OA, Wszolek ZK, Ertekin-Taner N, Graff-Radford NR, Rademakers R, Boylan K. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology. 2011 Sep 13; 77 (11):1102-3 Epub 2011 Aug 31
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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, Dickson D, Berger Z, Eriksen J, Robinson T, Zehr C, Dickey CA, Crook R, McGowan E, Mann D, Boeve B, Feldman H, Hutton M. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006 Aug 24; 442 (7105):916-9 Epub 2006 July 16
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Cruts M, Gijselinck I, van der Zee J, Engelborghs S, Wils H, Pirici D, Rademakers R, Vandenberghe R, Dermaut B, Martin JJ, van Duijn C, Peeters K, Sciot R, Santens P, De Pooter T, Mattheijssens M, Van den Broeck M, Cuijt I, Vennekens K, De Deyn PP, Kumar-Singh S, Van Broeckhoven C. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 2006 Aug 24; 442(7105):920-4. Epub 2006 Jul 16.
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Pirici D, Vandenberghe R, Rademakers R, Dermaut B, Cruts M, Vennekens K, Cuijt I, Lubke U, Ceuterick C, Martin JJ, Van Broeckhoven C, Kumar-Singh S. Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration family. J Neuropathol Exp Neurol. 2006 Mar; 65(3):289-301.
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Engelborghs S, Dermaut B, Marien P, Symons A, Vloeberghs E, Maertens K, Somers N, Goeman J, Rademakers R, Van den Broeck M, Pickut B, Cruts M, Van Broeckhoven C, De Deyn PP. Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementia. Neurobiol Aging. 2006 Feb; 27(2):285-92.
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van der Zee J, Rademakers R, Engelborghs S, Gijselinck I, Bogaerts V, Vandenberghe R, Santens P, Caekebeke J, De Pooter T, Peeters K, Lübke U, Van den Broeck M, Martin J-J, Cruts M, De Deyn PP, Van Broeckhoven C, Dermaut B. An Ancestral Haplotype Harbors a Highly Prevalent Mutation for 17q21-Linked Tau-negative FTLD in Belgium. Brain. 2006; 129(4):841-52.
Dermaut B, Kumar-Singh S, Rademakers R, Theuns J, Cruts M, Van Broeckhoven C. Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum. Trends Genet. 2005 Dec; 21(12):664-72. Epub 2005 Oct 10.
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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, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML. High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy. Hum Mol Genet. 2005 Nov 1; 14(21):3281-92. Epub 2005 Sep 29.
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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. Am J Hum Genet. 2005 Oct; 77(4):643-52. Epub 2005 Aug 30.
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Rademakers R, Sleegers K, Theuns J, Van den Broeck M, Bel Kacem S, Nilsson LG, Adolfsson R, van Duijn CM, Van Broeckhoven C, Cruts M. Association of cyclin-dependent kinase 5 and neuronal activators p35 and p39 complex in early-onset Alzheimer's disease. Neurobiol Aging. 2005 Aug-Sep; 26(8):1145-51. Epub 2004 Dec 22.
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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. Hum Mol Genet. 2005 Jul 1; 14(13):1753-62. Epub 2005 May 11.
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Weckx S, Del-Favero J, Rademakers R, Claes L, Cruts M, De Jonghe P, Van Broeckhoven C, De Rijk P. novoSNP, A novel computational tool for sequence variations discovery. Genome Res. 2005; 15(3):436-42.
Sleegers K, Roks G, Theuns J, Aulchenko YS, Rademakers R, Cruts M, van Gool WA, Van Broeckhoven C, Heutink P, Oostra BA, van Swieten JC, van Duijn CM. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain. 2004 Jul; 127(Pt 7):1641-9. Epub 2004 May 06.
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Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, De Deyn PP. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques. Ann Neurol. 2004 May; 55(5):617-26.
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Rademakers R, Cruts M, Van Broeckhoven C. The role of Tau in frontotemporal dementia and related tauopathies. Hum Mutat. 2004; 24:277-95.
Rademakers R, Cruts M, Van Broeckhoven C. Genetics of early-onset Alzheimer dementia. ScientificWorldJournal. 2003 Jun 16; 3:497-519. Epub 2003 Jun 16.
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Dermaut B, Croes EA, Rademakers R, Van den Broeck M, Cruts M, Hofman A, van Duijn CM, Van Broeckhoven C. PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease. Ann Neurol. 2003 Mar; 53(3):409-12.
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Rademakers R, Cruts M, Dermaut B, Sleegers K, Rosso SM, Van den Broeck M, Backhovens H, van Swieten J, van Duijn CM, Van Broeckhoven C. Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. Mol Psychiatry. 2002; 7(10):1064-74.
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Cruts M, Dermaut B, Rademakers R, Roks G, Van den Broeck M, Munteanu G, van Duijn CM, Van Broeckhoven C. Amyloid beta secretase gene (BACE) is neither mutated in nor associated with early-onset Alzheimer's disease. Neurosci Lett. 2001 Nov 2; 313(1-2):105-7.
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Dermaut B, Roks G, Theuns J, Rademakers R, Houwing-Duistermaat JJ, Serneels S, Hofman A, Breteler MM, Cruts M, Van Broeckhoven C, van Duijn CM. Variable expression of presenilin 1 is not a major determinant of risk for late-onset Alzheimer's disease. J Neurol. 2001 Nov; 248(11):935-9.
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Rosa Rademakers, Ph.D.

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