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Rosa Rademakers
Rosa Rademakers
Professor of neuroscience, Mayo Clinic
Dirección de correo verificada de uantwerpen.vib.be
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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
M DeJesus-Hernandez, IR Mackenzie, BF Boeve, AL Boxer, M Baker, ...
Neuron 72 (2), 245-256, 2011
55742011
TREM2 Variants in Alzheimer's Disease
R Guerreiro, A Wojtas, J Bras, M Carrasquillo, E Rogaeva, E Majounie, ...
New England Journal of Medicine 368 (2), 117-127, 2013
32652013
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
M Baker, IR Mackenzie, SM Pickering-Brown, J Gass, R Rademakers, ...
Nature 442 (7105), 916-919, 2006
23222006
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
M Cruts, I Gijselinck, J Van Der Zee, S Engelborghs, H Wils, D Pirici, ...
Nature 442 (7105), 920-924, 2006
17342006
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore, Z Diaz, ...
Nature 495 (7442), 467-473, 2013
16002013
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
PEA Ash, KF Bieniek, TF Gendron, T Caulfield, WL Lin, ...
Neuron 77 (4), 639-646, 2013
12602013
Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report
PT Nelson, DW Dickson, JQ Trojanowski, CR Jack, PA Boyle, K Arfanakis, ...
Brain 142 (6), 1503-1527, 2019
11972019
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
IRA Mackenzie, R Rademakers, M Neumann
The Lancet Neurology 9 (10), 995-1007, 2010
11792010
A new subtype of frontotemporal lobar degeneration with FUS pathology
M Neumann, R Rademakers, S Roeber, M Baker, HA Kretzschmar, ...
Brain 132 (11), 2922-2931, 2009
8962009
TDP‐43 A315T mutation in familial motor neuron disease
MA Gitcho, RH Baloh, S Chakraverty, K Mayo, JB Norton, D Levitch, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
7732008
Progranulin deficiency promotes circuit-specific synaptic pruning by microglia via complement activation
H Lui, J Zhang, SR Makinson, MK Cahill, KW Kelley, HY Huang, Y Shang, ...
Cell 165 (4), 921-935, 2016
7002016
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration
J Gass, A Cannon, IR Mackenzie, B Boeve, M Baker, J Adamson, R Crook, ...
Human molecular genetics 15 (20), 2988-3001, 2006
6752006
Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
TF Gendron, KF Bieniek, YJ Zhang, K Jansen-West, PEA Ash, T Caulfield, ...
Acta neuropathologica 126, 829-844, 2013
6592013
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman, LS Wang, L Klei, ...
Nature genetics 43 (7), 699-705, 2011
6502011
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1267-1288, 2018
6472018
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
VM Van Deerlin, PMA Sleiman, M Martinez-Lage, A Chen-Plotkin, ...
Nature genetics 42 (3), 234-239, 2010
6292010
Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice
YF Xu, TF Gendron, YJ Zhang, WL Lin, S D'Alton, H Sheng, MC Casey, ...
Journal of Neuroscience 30 (32), 10851-10859, 2010
6232010
Longitudinal Modeling of Age-Related Memory Decline and the APOE ε4 Effect
RJ Caselli, AC Dueck, D Osborne, MN Sabbagh, DJ Connor, GL Ahern, ...
New England Journal of Medicine 361 (3), 255-263, 2009
6182009
TIA1 mutations in amyotrophic lateral sclerosis and frontotemporal dementia promote phase separation and alter stress granule dynamics
IR Mackenzie, AM Nicholson, M Sarkar, J Messing, MD Purice, C Pottier, ...
Neuron 95 (4), 808-816. e9, 2017
6092017
TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD
CC Chou, YI Zhang, ME Umoh, SW Vaughan, I Lorenzini, F Liu, ...
Nature neuroscience 21 (2), 228-239, 2018
5602018
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