Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43 M Polymenidou, C Lagier-Tourenne, KR Hutt, SC Huelga, J Moran, ... Nature neuroscience 14 (4), 459-468, 2011 | 1446 | 2011 |
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration C Lagier-Tourenne, M Polymenidou, DW Cleveland Human molecular genetics 19 (R1), R46-R64, 2010 | 1212 | 2010 |
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1042 | 2015 |
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs C Lagier-Tourenne, M Polymenidou, KR Hutt, AQ Vu, M Baughn, ... Nature neuroscience 15 (11), 1488-1497, 2012 | 860 | 2012 |
Rethinking als: The fus about tdp-43 C Lagier-Tourenne, DW Cleveland Cell 136 (6), 1001-1004, 2009 | 722 | 2009 |
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration C Lagier-Tourenne, M Baughn, F Rigo, S Sun, P Liu, HR Li, J Jiang, ... Proceedings of the National Academy of Sciences 110 (47), E4530-E4539, 2013 | 690 | 2013 |
Gain of toxicity from ALS/FTD-linked repeat expansions in C9ORF72 is alleviated by antisense oligonucleotides targeting GGGGCC-containing RNAs J Jiang, Q Zhu, TF Gendron, S Saberi, M McAlonis-Downes, A Seelman, ... Neuron 90 (3), 535-550, 2016 | 598 | 2016 |
Animal models of neurodegenerative diseases TM Dawson, TE Golde, C Lagier-Tourenne Nature neuroscience 21 (10), 1370-1379, 2018 | 556 | 2018 |
ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS SC Ling, CP Albuquerque, JS Han, C Lagier-Tourenne, S Tokunaga, ... Proceedings of the National Academy of Sciences 107 (30), 13318-13323, 2010 | 533 | 2010 |
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43 ES Arnold, SC Ling, SC Huelga, C Lagier-Tourenne, M Polymenidou, ... Proceedings of the National Academy of Sciences 110 (8), E736-E745, 2013 | 531 | 2013 |
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration Z Melamed, J López-Erauskin, MW Baughn, O Zhang, K Drenner, Y Sun, ... Nature neuroscience 22 (2), 180-190, 2019 | 470 | 2019 |
Nuclear-import receptors reverse aberrant phase transitions of RNA-binding proteins with prion-like domains L Guo, HJ Kim, H Wang, J Monaghan, F Freyermuth, JC Sung, ... Cell 173 (3), 677-692. e20, 2018 | 449 | 2018 |
Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS K Meyer, L Ferraiuolo, CJ Miranda, S Likhite, S McElroy, S Renusch, ... Proceedings of the National Academy of Sciences 111 (2), 829-832, 2014 | 419 | 2014 |
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency C Lagier-Tourenne, M Tazir, LC López, CM Quinzii, M Assoum, N Drouot, ... The American Journal of Human Genetics 82 (3), 661-672, 2008 | 351 | 2008 |
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia AHDM Dam, I Koscinski, JAM Kremer, C Moutou, AS Jaeger, ... The American Journal of Human Genetics 81 (4), 813-820, 2007 | 343 | 2007 |
C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins YJ Zhang, TF Gendron, JC Grima, H Sasaguri, K Jansen-West, YF Xu, ... Nature neuroscience 19 (5), 668-677, 2016 | 341 | 2016 |
Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors A Crotti, C Benner, BE Kerman, D Gosselin, C Lagier-Tourenne, ... Nature neuroscience 17 (4), 513-521, 2014 | 339 | 2014 |
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone AK Anttonen, I Mahjneh, RH Hämäläinen, C Lagier-Tourenne, O Kopra, ... Nature genetics 37 (12), 1309-1311, 2005 | 271 | 2005 |
ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP S Sun, SC Ling, J Qiu, CP Albuquerque, Y Zhou, S Tokunaga, H Li, H Qiu, ... Nature communications 6 (1), 6171, 2015 | 249 | 2015 |
Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss J Scekic‐Zahirovic, O Sendscheid, H El Oussini, M Jambeau, Y Sun, ... The EMBO journal 35 (10), 1077-1097, 2016 | 247 | 2016 |