Agnes Nishimura
Title
Cited by
Cited by
Year
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
C Vance, B Rogelj, T Hortobágyi, KJ De Vos, AL Nishimura, J Sreedharan, ...
Science 323 (5918), 1208-1211, 2009
22062009
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
AL Nishimura, M Mitne-Neto, HCA Silva, A Richieri-Costa, S Middleton, ...
The American Journal of Human Genetics 75 (5), 822-831, 2004
9542004
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
JR Tollervey, T Curk, B Rogelj, M Briese, M Cereda, M Kayikci, J König, ...
Nature neuroscience 14 (4), 452-458, 2011
7992011
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
JR Tollervey, T Curk, B Rogelj, M Briese, M Cereda, M Kayikci, J König, ...
Nature neuroscience 14 (4), 452-458, 2011
7992011
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
YB Lee, HJ Chen, JN Peres, J Gomez-Deza, J Attig, M Štalekar, ...
Cell reports 5 (5), 1178-1186, 2013
3562013
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
YB Lee, HJ Chen, JN Peres, J Gomez-Deza, J Attig, M Štalekar, ...
Cell reports 5 (5), 1178-1186, 2013
3562013
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability
B Bilican, A Serio, SJ Barmada, AL Nishimura, GJ Sullivan, M Carrasco, ...
Proceedings of the National Academy of Sciences 109 (15), 5803-5808, 2012
3132012
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy
A Serio, B Bilican, SJ Barmada, DM Ando, C Zhao, R Siller, K Burr, ...
Proceedings of the National Academy of Sciences 110 (12), 4697-4702, 2013
2572013
FUS-SMN protein interactions link the motor neuron diseases ALS and SMA
T Yamazaki, S Chen, Y Yu, B Yan, TC Haertlein, MA Carrasco, JC Tapia, ...
Cell reports 2 (4), 799-806, 2012
2102012
Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species
EL Scotter, C Vance, AL Nishimura, YB Lee, HJ Chen, H Urwin, ...
Journal of cell science 127 (6), 1263-1278, 2014
1812014
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules
C Vance, EL Scotter, AL Nishimura, C Troakes, JC Mitchell, C Kathe, ...
Human molecular genetics 22 (13), 2676-2688, 2013
1602013
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration
AL Nishimura, V Župunski, C Troakes, C Kathe, P Fratta, M Howell, ...
Brain 133 (6), 1763-1771, 2010
1372010
Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations
Z Zhang, S Almeida, Y Lu, AL Nishimura, L Peng, D Sun, B Wu, ...
PloS one 8 (10), e76055, 2013
1212013
Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysis
N Fukumoto, T Fujii, O Combarros, MI Kamboh, SJ Tsai, S Matsushita, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
1112010
Rett syndrome in a boy with a 47, XXY karyotype confirmed by a rare mutation in the MECP2 gene
JS Schwartzman, A Bernardino, A Nishimura, RR Gomes, M Zatz
Neuropediatrics 32 (03), 162-164, 2001
1072001
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
AL Nishimura, A Al-Chalabi, M Zatz
Human genetics 118 (3-4), 499-500, 2005
1052005
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13
AL Nishimura, M Mitne-Neto, HCA Silva, JRM Oliveira, M Vainzof, M Zatz
Journal of medical genetics 41 (4), 315-320, 2004
942004
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis
HJ Chen, JC Mitchell, S Novoselov, J Miller, AL Nishimura, EL Scotter, ...
Brain 139 (5), 1417-1432, 2016
862016
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders
T Hortobágyi, C Troakes, AL Nishimura, C Vance, JC Van Swieten, ...
Acta neuropathologica 121 (4), 519-527, 2011
782011
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca 2+-permeable AMPA receptor-mediated excitotoxicity
BT Selvaraj, MR Livesey, C Zhao, JM Gregory, OT James, EM Cleary, ...
Nature communications 9 (1), 1-14, 2018
672018
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