Synaptic dysfunction and altered excitability in C9ORF72 ALS/FTD
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is characterized by a progressive degeneration of upper and lower motor neurons, resulting in fatal paralysis due to denervation of the muscle. Due to genetic, pathological and symptomatic overlap, ALS is now considered a spectrum disease together with frontotemporal dementia (FTD), the second most common cause of dementia in individuals under the age of 65. Interestingly, in both diseases, there is a large prevalence of RNA binding proteins (RBPs) that are mutated and considered disease-causing, or whose dysfunction contribute to disease pathogenesis. The most common shared genetic mutation in ALS/FTD is a hexanucleuotide repeat expansion within intron 1 of C9ORF72 (C9). Three potentially overlapping, putative toxic mechanisms have been proposed: loss of function due to haploinsufficient expression of the C9ORF72 mRNA, gain of function of the repeat RNA aggregates, or RNA foci, and repeat-associated non-ATG-initiated translation (RAN) of the repeat RNA into toxic dipeptide repeats (DPRs). Regardless of the causative mechanism, disease symptoms are ultimately caused by a failure of neurotransmission in three regions: the brain, the spinal cord, and the neuromuscular junction. Here, we review C9 ALS/FTD-associated synaptic dysfunction and aberrant neuronal excitability in these three key regions, focusing on changes in morphology and synapse formation, excitability, and excitotoxicity in patients, animal models, and in vitro models. We compare these deficits to those seen in other forms of ALS and FTD in search of shared pathways, and discuss the potential targeting of synaptic dysfunctions for therapeutic intervention in ALS and FTD patients.
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The combination of NPTX2, NfL, and GFAP reflects the complexity of pathological mechanisms involved in neurodegenerative disorders and FTD in particular.
“The combination of NPTX2 (representing synaptic plasticity [35]), NfL (marker for overall neurodegeneration [60, 61]), and GFAP (depicting astrogliosis [62]) reflects the complexity of pathological mechanisms involved in neurodegenerative disorders and FTD in particular [63–66]”
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Cites
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359 · see citing works
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936 · see citing works
Alzheimer's Disease Is a Synaptic Failure
Selkoe, D. J. (2002) · Science · doi:10.1126/science.1074069 · Cited by 4,420 · see citing works
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409 · see citing works
Terry, R. D., Masliah, E., Salmon, D. P., Butters, N., DeTeresa, R., Hill, R., Hansen, L. A., & Katzman, R. (1991) · Annals of Neurology · doi:10.1002/ana.410300410 · Cited by 4,397 · see citing works
AMPA Receptor Trafficking and Synaptic Plasticity
Malinow, R., & Malenka, R. C. (2002) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.25.112701.142758 · Cited by 2,588 · see citing works
Synapse loss in frontal cortex biopsies in Alzheimer's disease: Correlation with cognitive severity
DeKosky, S. T., & Scheff, S. W. (1990) · Annals of Neurology · doi:10.1002/ana.410270502 · Cited by 2,376 · see citing works
Decoding ALS: from genes to mechanism
Taylor, J. P., Brown, R. H., & Cleveland, D. W. (2016) · Nature · doi:10.1038/nature20413 · Cited by 2,047 · see citing works
Brain Lesions, Obesity, and Other Disturbances in Mice Treated with Monosodium Glutamate
Olney, J. (1969) · Science · doi:10.1126/science.164.3880.719 · Cited by 1,885 · see citing works
Transcranial magnetic stimulation and the human brain
Hallett, M. (2000) · Nature · doi:10.1038/35018000 · Cited by 1,603 · cited 2× · see citing works
“Cortical hyperexcitability is measured with the use of transcranial magnetic stimulation (TMS; (Hallett, 2000)) and can be detected in both sporadic and familial ALS patients, including C9ORF72 patients, as well as some subsets of FTD patients, suggesting that divergent mechanistic pathways lead to…”
β-Lactam antibiotics offer neuroprotection by increasing glutamate transporter expression
Rothstein, J. D., Patel, S., Regan, M. R., Haenggeli, C., Huang, Y. H., Bergles, D. E., Jin, L., Dykes Hoberg, M., Vidensky, S., Chung, D. S., et al. (2005) · Nature · doi:10.1038/nature03180 · Cited by 1,518 · see citing works
RNA editing in brain controls a determinant of ion flow in glutamate-gated channels
Sommer, B., Köhler, M., Sprengel, R., & Seeburg, P. H. (1991) · Cell · doi:10.1016/0092-8674(91)90568-j · Cited by 1,517 · see citing works
Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis
Rothstein, J. D., Van Kammen, M., Levey, A. I., Martin, L. J., & Kuncl, R. W. (1995) · Annals of Neurology · doi:10.1002/ana.410380114 · Cited by 1,471 · see citing works
Ca2 + Permeability of KA-AMPA—Gated Glutamate Receptor Channels Depends on Subunit Composition
Hollmann, M., Hartley, M., & Heinemann, S. F. (1991) · Science · doi:10.1126/science.1709304 · Cited by 1,450 · see citing works
ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors
Boillée, S., Velde, C. V., & Cleveland, D. W. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.018 · Cited by 1,426 · see citing works
From charcot to lou gehrig: deciphering selective motor neuron death in als
Cleveland, D. W., & Rothstein, J. D. (2001) · Nature reviews. Neuroscience · doi:10.1038/35097565 · Cited by 1,389 · see citing works
Functions and Regulation of RNA Editing by ADAR Deaminases
Nishikura, K. (2010) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060208-105251 · Cited by 1,303 · see citing works
The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
Mori, K., Weng, S., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H. A., Cruts, M., Broeckhoven, C. V., et al. (2013) · Science · doi:10.1126/science.1232927 · Cited by 1,248 · see citing works
Astrocytes expressing ALS-linked mutated SOD1 release factors selectively toxic to motor neurons
Nagai, M., Re, D. B., Nagata, T., Chalazonitis, A., Jessell, T. M., Wichterle, H., & Przedborski, S. (2007) · Nature Neuroscience · doi:10.1038/nn1876 · Cited by 1,220 · see citing works
Ash, P. E. A., Bieniek, K. F., Gendron, T. F., Caulfield, T. R., Lin, W.-L., DeJesus‐Hernandez, M., van Blitterswijk, M., Jansen‐West, K. R., Paul, J. W., Rademakers, R., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.02.004 · Cited by 1,079 · see citing works
Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
Ilieva, H., Polymenidou, M., & Cleveland, D. W. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200908164 · Cited by 1,008 · see citing works
The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
Zhang, K., Donnelly, C. J., Haeusler, A. R., Grima, J. C., Machamer, J. B., Steinwald, P., Daley, E. L., Miller, S. J., Cunningham, K. M., Vidensky, S., et al. (2015) · Nature · doi:10.1038/nature14973 · Cited by 982 · see citing works
Self-citationAMPARs and Synaptic Plasticity: The Last 25 Years
Huganir, R. L., & Nicoll, R. A. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.025 · Cited by 968 · see citing works
The ageing cortical synapse: hallmarks and implications for cognitive decline
Morrison, J. H., & Baxter, M. G. (2012) · Nature Reviews Neuroscience · doi:10.1038/nrn3200 · Cited by 965 · see citing works
Stress granules as crucibles of ALS pathogenesis
Li, Y. R., King, O. D., Shorter, J., & Gitler, A. D. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.201302044 · Cited by 913 · see citing works
RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention
Donnelly, C. J., Zhang, P.-W., Pham, J. T., Haeusler, A. R., Mistry, N. A., Vidensky, S., Daley, E. L., Poth, E. M., Hoover, B., Fines, D. M., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.015 · Cited by 877 · see citing works
Self-citationEvidence for multiple AMPA receptor complexes in hippocampal CA1/CA2 neurons
Wenthold, R., Petralia, R., Blahos J, II, & Niedzielski, A. (1996) · The Journal of Neuroscience · doi:10.1523/jneurosci.16-06-01982.1996 · Cited by 850 · see citing works
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Freibaum, B. D., Lu, Y., Lopez-Gonzalez, R., Kim, N. C., Almeida, S., Lee, K.-H., Badders, N., Valentine, M., Miller, B. L., Wong, P. C., et al. (2015) · Nature · doi:10.1038/nature14974 · Cited by 841 · see citing works
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
Haidet-Phillips, A. M., Hester, M. E., Miranda, C. J., Meyer, K., Braun, L., Frakes, A., Song, S., Likhite, S., Murtha, M. J., Foust, K. D., et al. (2011) · Nature Biotechnology · doi:10.1038/nbt.1957 · Cited by 782 · see citing works
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Zu, T., Liu, Y., Báñez-Coronel, M., Reid, T. S., Pletniková, O., Lewis, J. M., Miller, T. M., Harms, M. B., Falchook, A. E., Subramony, S. H., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1315438110 · Cited by 748 · see citing works
Day, M., Wang, Z., Ding, J., An, X., Ingham, C. A., Shering, A. F., Wokosin, D., Ilijic, E., Sun, Z., Sampson, A. R., et al. (2006) · Nature Neuroscience · doi:10.1038/nn1632 · Cited by 745 · see citing works
Mizielinska, S., Grönke, S., Niccoli, T., Ridler, C. E., Clayton, E. L., Devoy, A., Moens, T., Norona, F. E., Woollacott, I. O. C., Pietrzyk, J., et al. (2014) · Science · doi:10.1126/science.1256800 · Cited by 740 · see citing works
Lui, H., Zhang, J., Makinson, S. R., Cahill, M. K., Kelley, K. W., Huang, H.-Y., Shang, Y., Oldham, M. C., Martens, L. H., Gao, F., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.001 · Cited by 729 · see citing works
Sareen, D., O’Rourke, J. G., Meera, P., Muhammad, A. K. M. G., Grant, S., Simpkinson, M., Bell, S., Carmona, S., Ornelas, L., Sahabian, A., et al. (2013) · Science Translational Medicine · doi:10.1126/scitranslmed.3007529 · Cited by 670 · see citing works
Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations
Alami, N. H., Smith, R. B., Carrasco, M. A., Williams, L. A., Winborn, C. S., Han, S. S. W., Kiskinis, E., Winborn, B., Freibaum, B. D., Kanagaraj, A., et al. (2014) · Neuron · doi:10.1016/j.neuron.2013.12.018 · Cited by 660 · see citing works
Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons
Wainger, B. J., Kiskinis, E., Mellin, C., Wiskow, O., Han, S. S. W., Sandoe, J., Perez, N. P., Williams, L. A., Lee, S., Boulting, G. L., et al. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.03.019 · Cited by 652 · see citing works
Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells
Kwon, I., Xiang, S., Kato, M., Wu, L. C., Theodoropoulos, P., Wang, T., Kim, J., Yun, J., Xie, Y., & McKnight, S. L. (2014) · Science · doi:10.1126/science.1254917 · Cited by 648 · see citing works
Abnormal excitatory amino acid metabolism in amyotrophic lateral sclerosis
Rothstein, J. D., Tsai, G. E., Kuncl, R. W., Clawson, L., Cornblath, D. R., Drachman, D. B., Pestronk, A., Stauch, B. L., & Coyle, J. T. (1990) · Annals of Neurology · doi:10.1002/ana.410280106 · Cited by 637 · see citing works
Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity.
Rothstein, J. D., Jin, L., Dykes‐Hoberg, M., & Kuncl, R. W. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.14.6591 · Cited by 623 · see citing works
Jovičić, A., Mertens, J., Boeynaems, S., Bogaert, E., Chai, N., Yamada, S. B., Paul, J. W., Sun, S., Herdy, J. R., Bieri, G., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4085 · Cited by 598 · see citing works
Imaging synaptic density in the living human brain
Finnema, S. J., Nabulsi, N. B., Eid, T., Detyniecki, K., Lin, S.-F., Chen, M.-K., Dhaher, R., Matuskey, D., Baum, E., Holden, D., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf6667 · Cited by 575 · see citing works
Lagier‐Tourenne, C., Baughn, M. W., Rigo, F., Sun, S., Liu, P., Li, H., Jiang, J., Watt, A. T., Chun, S. J., Katz, M., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1318835110 · Cited by 555 · see citing works
<i>C9orf72</i> is required for proper macrophage and microglial function in mice
O’Rourke, J. G., Bogdanik, L., Yáñez, A., Lall, D., Wolf, A. J., Muhammad, A. K. M. G., Ho, R., Carmona, S., Vit, J. P., Zarrow, J., et al. (2016) · Science · doi:10.1126/science.aaf1064 · Cited by 550 · see citing works
RNA editing and death of motor neurons
Kawahara, Y., Ito, K., Sun, H. J., Aizawa, H., Kanazawa, I., & Kwak, S. (2004) · Nature · doi:10.1038/427801a · Cited by 536 · see citing works
Jiang, J., Zhu, Q., Gendron, T. F., Saberi, S., McAlonis-Downes, M., Seelman, A., Stauffer, J. E., Jafar-nejad, P., Drenner, K., Schulte, D., et al. (2016) · Neuron · doi:10.1016/j.neuron.2016.04.006 · Cited by 536 · see citing works
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules
Bosco, D. A., Lemay, N., Ko, H. K., Zhou, H., Burke, C., Kwiatkowski, T. J., Sapp, P. C., McKenna-Yasek, D. M., Brown, R. H., & Hayward, L. J. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq335 · Cited by 520 · see citing works
Wen, X., Tan, W., Westergard, T., Krishnamurthy, K., Markandaiah, S. S., Shi, Y., Lin, S., Shneider, N. A., Monaghan, J., Pandey, U. B., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.12.010 · Cited by 513 · see citing works
Synaptic AMPA receptor composition in development, plasticity and disease
Henley, J. M., & Wilkinson, K. A. (2016) · Nature reviews. Neuroscience · doi:10.1038/nrn.2016.37 · Cited by 506 · see citing works
Lee, Y., Chen, H.-J., Peres, J., Gómez-Deza, J., Attig, J., Štalekar, M., Troakes, C., Nishimura, A. L., Scotter, E. L., Vance, C. A., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.10.049 · Cited by 487 · see citing works
Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas‐Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., et al. (2014) · Brain · doi:10.1093/brain/awu138 · Cited by 482 · see citing works
Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis
Vucic, S., Nicholson, G. A., & Kiernan, M. C. (2008) · Brain · doi:10.1093/brain/awn071 · Cited by 460 · see citing works
Buchan, J. R. (2014) · RNA Biology · doi:10.4161/15476286.2014.972208 · Cited by 459 · see citing works
A developmentally regulated activity that unwinds RNA duplexes
BASS, B. (1987) · Cell · doi:10.1016/0092-8674(87)90239-x · Cited by 446 · see citing works
Kim, U., Wang, Y., Sanford, T., Zeng, Y., & Nishikura, K. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.24.11457 · Cited by 442 · see citing works
Motor Neurons Are Selectively Vulnerable to AMPA/Kainate Receptor-Mediated InjuryIn Vitro
Carriedo, S. G., Yin, H. Z., & Weiss, J. H. (1996) · Journal of Neuroscience · doi:10.1523/jneurosci.16-13-04069.1996 · Cited by 440 · see citing works
Danbolt, N. C., Storm‐Mathisen, J., & Kanner, B. I. (1992) · Neuroscience · doi:10.1016/0306-4522(92)90316-t · Cited by 438 · see citing works
Marchetto, M. C. N., Muotri, A. R., Mu, Y., Smith, A. M., Cezar, G. G., & Gage, F. H. (2008) · Cell Stem Cell · doi:10.1016/j.stem.2008.10.001 · Cited by 424 · see citing works
Sellier, C., Campanari, M., Julie Corbier, C., Gaucherot, A., Kolb‐Cheynel, I., Oulad‐Abdelghani, M., Ruffenach, F., Page, A., Ciura, S., Kabashi, E., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593350 · Cited by 414 · see citing works
Bellingham, M. C. (2011) · CNS Neuroscience & Therapeutics · doi:10.1111/j.1755-5949.2009.00116.x · Cited by 388 · see citing works
C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD
Liu, Y., Pattamatta, A., Zu, T., Reid, T. S., Bardhi, O., Borchelt, D., Yachnis, A. T., & Ranum, L. P. W. (2016) · Neuron · doi:10.1016/j.neuron.2016.04.005 · Cited by 368 · see citing works
Nonhoff, U., Ralser, M., Welzel, F., Piccini, I., Balzereit, D., Yaspo, M., Lehrach, H. R., & Krobitsch, S. (2006) · Molecular Biology of the Cell · doi:10.1091/mbc.e06-12-1120 · Cited by 347 · see citing works
Ciura, S., Lattante, S., Le Ber, I., Latouche, M., Tostivint, H., Brice, A., & Kabashi, E. (2013) · Annals of Neurology · doi:10.1002/ana.23946 · Cited by 333 · see citing works
Zhang, Y., Jansen‐West, K. R., Xu, Y.-F., Gendron, T. F., Bieniek, K. F., Lin, W.-L., Sasaguri, H., Caulfield, T. R., Hubbard, J., Daughrity, L. M., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1336-5 · Cited by 328 · see citing works
Almeida, S., Gascon, E., Tran, H., Chou, H. J., Gendron, T. F., DeGroot, S., Tapper, A. R., Sellier, C., Charlet-Berguerand, N., Karydas, A., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1149-y · Cited by 321 · see citing works
Raymond, L. A., André, V. M., Cepeda, C., Gladding, C. M., Milnerwood, A. J., & Levine, M. S. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.08.052 · Cited by 319 · see citing works
May, S., Hornburg, D., Schludi, M. H., Arzberger, T., Rentzsch, K., Schwenk, B. M., Grässer, F. A., Mori, K., Kremmer, E., Banzhaf‐Strathmann, J., et al. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1329-4 · Cited by 302 · see citing works
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD
O’Rourke, J. G., Bogdanik, L., Muhammad, A. K. M. G., Gendron, T. F., Kim, K. J., Austin, A., Cady, J., Liu, E. Y., Zarrow, J., Grant, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.10.027 · Cited by 298 · see citing works
RED2, a Brain-specific Member of the RNA-specific Adenosine Deaminase Family
Melcher, T., Maas, S., Herb, A., Sprengel, R., Higuchi, M., & Seeburg, P. H. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.50.31795 · Cited by 295 · see citing works
Devlin, A., Burr, K., Borooah, S., Foster, J. D., Cleary, E. M., Geti, I., Vallier, L., Shaw, C. E., Chandran, S., & Miles, G. B. (2015) · Nature Communications · doi:10.1038/ncomms6999 · Cited by 295 · see citing works
Local RNA Translation at the Synapse and in Disease: Figure 1.
Liu‐Yesucevitz, L., Bassell, G. J., Gitler, A. D., Hart, A. C., Klann, E., Richter, J. D., Warren, S. T., & Wolozin, B. L. (2011) · Journal of Neuroscience · doi:10.1523/jneurosci.4105-11.2011 · Cited by 289 · see citing works
Calcium dysregulation in amyotrophic lateral sclerosis
Großkreutz, J., Bosch, L. V. D., & Keller, B. U. (2010) · Cell Calcium · doi:10.1016/j.ceca.2009.12.002 · Cited by 284 · see citing works
Synaptic Dysfunction in Parkinson’s Disease
Picconi, B., Piccoli, G., & Calabresi, P. (2012) · Advances in experimental medicine and biology · doi:10.1007/978-3-7091-0932-8_24 · Cited by 277 · see citing works
Seeburg, P. H., Higuchi, M., & Sprengel, R. (1998) · Brain Research Reviews · doi:10.1016/s0165-0173(97)00062-3 · Cited by 269 · see citing works
D‐Serine is a key determinant of glutamate toxicity in amyotrophic lateral sclerosis
Sasabe, J., Chiba, T., Yamada, M., Okamoto, K., Nishimoto, I., Matsuoka, M., & Aiso, S. (2007) · The EMBO Journal · doi:10.1038/sj.emboj.7601840 · Cited by 269 · see citing works
C 9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
Koppers, M., Blokhuis, A. M., Westeneng, H., Terpstra, M. L., Zundel, C. A. C., de Sá, R. V., Schellevis, R. D., Waite, A. J., Blake, D. J., Veldink, J. H., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24453 · Cited by 268 · see citing works
Cloning of cDNAs encoding mammalian double-stranded RNA-specific adenosine deaminase
O’Connell, M. A., Krause, S., Higuchi, M., Hsuan, J. J., Totty, N. F., Jenny, A., & Keller, W. (1995) · Molecular and Cellular Biology · doi:10.1128/mcb.15.3.1389 · Cited by 268 · see citing works
Kim, H. J., & Taylor, J. P. (2017) · Neuron · doi:10.1016/j.neuron.2017.07.029 · Cited by 267 · see citing works
Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD
Boeynaems, S., Bogaert, E., Michiels, E., Gijselinck, I., Sieben, A., Jovičić, A., De Baets, G., Scheveneels, W., Steyaert, J., Cuijt, I., et al. (2016) · Scientific Reports · doi:10.1038/srep20877 · Cited by 262 · see citing works
Peters, O. M., Cabrera, G. T., Tran, H., Gendron, T. F., McKeon, J. E., Metterville, J., Weiss, A., Wightman, N., Salameh, J. S., Kim, J., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.11.018 · Cited by 259 · see citing works
The high affinity uptake system for excitatory amino acids in the brain
Danbolt, N. C. (1994) · Progress in Neurobiology · doi:10.1016/0301-0082(94)90033-7 · Cited by 257 · see citing works
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
Mitchell, J., Paul, P., Chen, H.-J., Morris, A. G., Payling, M., Falchi, M., Habgood, J., Panoutsou, S., Winkler, S., Tisato, V., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0914128107 · Cited by 250 · see citing works
Dafinca, R., Scaber, J., Ababneh, N. A., Lalic, T., Weir, G. A., Christian, H., Vowles, J., Douglas, A. G. L., Fletcher-Jones, A., Browne, C., et al. (2016) · Stem Cells · doi:10.1002/stem.2388 · Cited by 234 · see citing works
Peng, P. L., Zhong, X., Tu, W., Soundarapandian, M. M., Molner, P., Zhu, D., Lau, L. W., Liu, S., Liu, F., & Lu, Y. (2006) · Neuron · doi:10.1016/j.neuron.2006.01.025 · Cited by 232 · see citing works
Pathophysiological and diagnostic implications of cortical dysfunction in ALS
Geevasinga, N., Menon, P., Özdi̇nler, P. H., Kiernan, M. C., & Vucic, S. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.140 · Cited by 231 · see citing works
Genetic mutations in RNA-binding proteins and their roles in ALS
Kapeli, K., Martinez, F. J., & Yeo, G. W.-M. (2017) · Human Genetics · doi:10.1007/s00439-017-1830-7 · Cited by 221 · see citing works
Deficient RNA editing of GluR2 and neuronal death in amyotropic lateral sclerosis
Kwak, S., & Kawahara, Y. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-004-0599-z · Cited by 215 · see citing works
The essential role of AMPA receptor GluR2 subunit RNA editing in the normal and diseased brain
Wright, A. L., & Vissel, B. (2012) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2012.00034 · Cited by 214 · see citing works
d -Amino acid oxidase controls motoneuron degeneration through d -serine
Sasabe, J., Miyoshi, Y., Suzuki, M., Mita, M., Konno, R., Matsuoka, M., Hamase, K., & Aiso, S. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1114639109 · Cited by 214 · see citing works
Phase III randomized trial of gabapentin in patients with amyotrophic lateral sclerosis
Miller, R. G., Moore, D. H., Gelinas, D. F., Dronsky, V., Mendoza, M., Barohn, R. J., Bryan, W. W., Ravits, J., Yuen, E., Neville, H. E., et al. (2001) · Neurology · doi:10.1212/wnl.56.7.843 · Cited by 212 · see citing works
Sanderson, J. L., Gorski, J. A., & Dell’Acqua, M. L. (2016) · Neuron · doi:10.1016/j.neuron.2016.01.043 · Cited by 210 · see citing works
Adult-derived neural precursors transplanted into multiple regions in the adult brain
Herrera, D. G., García‐Verdugo, J. M., & Álvarez-Buylla, A. (1999) · Annals of Neurology · doi:10.1002/1531-8249(199912)46:6 · Cited by 204 · see citing works
A randomized, placebo-controlled trial of topiramate in amyotrophic lateral sclerosis
Cudkowicz, M., Shefner, J. M., Schoenfeld, D., Brown, R. H., Jr., Johnson, H., Qureshi, M., Jacobs, M., Rothstein, J. D., Appel, S. H., Pascuzzi, R. M., et al. (2003) · Neurology · doi:10.1212/wnl.61.4.456 · Cited by 203 · see citing works
Selvaraj, B. T., Livesey, M. R., Zhao, C., Gregory, J. M., James, O. T., Cleary, E. M., Chouhan, A. K., Gane, A. B., Perkins, E., Dando, O., et al. (2018) · Nature Communications · doi:10.1038/s41467-017-02729-0 · Cited by 200 · see citing works
Tran, H., Almeida, S., Moore, J. E., Gendron, T. F., Chalasani, U., Lu, Y., Du, X., Nickerson, J. A., Petrucelli, L., Weng, Z., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.015 · Cited by 195 · see citing works
Couratier, P., Sindou, P., Hugon, J., Couratier, P., Hugon, J., Vallat, J., & Dumas, M. (1993) · The Lancet · doi:10.1016/0140-6736(93)92615-z · Cited by 189 · see citing works
Profound downregulation of the RNA editing enzyme ADAR2 in ALS spinal motor neurons
Hideyama, T., Yamashita, T., Aizawa, H., Tsuji, S., Kakita, A., Takahashi, H., & Kwak, S. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.033 · Cited by 189 · see citing works
Gascon, E., Lynch, K., Ruan, H., Almeida, S., Verheyden, J. M., Seeley, W. W., Dickson, D. W., Petrucelli, L., Sun, D., Jiao, J., et al. (2014) · Nature Medicine · doi:10.1038/nm.3717 · Cited by 188 · see citing works
Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans
Therrien, M., Rouleau, G. A., Dion, P. A., & Parker, J. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0083450 · Cited by 183 · see citing works
Hall, C. E., Yao, Z., Choi, M., Tyzack, G. E., Serio, A., Luisier, R., Harley, J., Preza, E., Arber, C., Crisp, S. J., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.05.024 · Cited by 179 · see citing works
Synaptic dysfunction in progranulin-deficient mice
Petkau, T. L., Neal, S. J., Milnerwood, A. J., Mew, A., Hill, A. M., Orban, P. C., Gregg, J., Lu, G., Feldman, H., Mackenzie, I. R., et al. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.10.016 · Cited by 174 · see citing works
The origin of muscle fasciculations and cramps
Layzer, R. B. (1994) · Muscle & Nerve · doi:10.1002/mus.880171102 · Cited by 170 · see citing works
Rocha, M. C., Pousinha, P. A., Correia, A. M., Sebastião, A. M., & Ribeiro, J. A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0073846 · Cited by 165 · see citing works
Synaptic dysfunction in Parkinson's disease
Bagetta, V., Ghiglieri, V., Sgobio, C., Calabresi, P., & Picconi, B. (2010) · Biochemical Society Transactions · doi:10.1042/bst0380493 · Cited by 159 · see citing works
Hyperactive somatostatin interneurons contribute to excitotoxicity in neurodegenerative disorders
Zhang, W., Zhang, L., Liang, B., Schroeder, D. G., Zhang, Z., Cox, G. A., Li, Y., & Lin, D. (2016) · Nature Neuroscience · doi:10.1038/nn.4257 · Cited by 159 · see citing works
Induced Loss of ADAR2 Engenders Slow Death of Motor Neurons from Q/R Site-Unedited GluR2
Hideyama, T., Yamashita, T., Suzuki, T., Tsuji, S., Higuchi, M., Seeburg, P. H., Takahashi, R., Misawa, H., & Kwak, S. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.2021-10.2010 · Cited by 158 · see citing works
FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization
Udagawa, T., Fujioka, Y., Tanaka, M., Honda, D., Yokoi, S., Riku, Y., Ibi, D., Nagai, T., Yamada, K., Watanabe, H., et al. (2015) · Nature Communications · doi:10.1038/ncomms8098 · Cited by 154 · see citing works
Adenosine deaminases acting on RNA (ADARs): RNA-editing enzymes.
Keegan, L. P., Leroy, A., Sproul, D., & O’Connell, M. A. (2004) · Genome biology · doi:10.1186/gb-2004-5-2-209 · Cited by 153 · see citing works
There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS
Gitler, A. D., & Tsuiji, H. (2016) · Brain Research · doi:10.1016/j.brainres.2016.04.004 · Cited by 152 · see citing works
Activity-dependent FUS dysregulation disrupts synaptic homeostasis
Sephton, C. F., Tang, A. A., Kulkarni, A., West, J. D., Brooks, M., Stubblefield, J. J., Liu, Y., Zhang, M. Q., Green, C. B., Huber, K. M., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1406162111 · Cited by 145 · see citing works
Damme, P. V., Bosch, L. V. D., Houtte, E. V., Callewaert, G., & Robberecht, W. (2002) · Journal of Neurophysiology · doi:10.1152/jn.2002.88.3.1279 · Cited by 145 · see citing works
Does interneuronal dysfunction contribute to neurodegeneration in amyotrophic lateral sclerosis?
Turner, M. R., & Kiernan, M. C. (2012) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2011.636050 · Cited by 144 · see citing works
GluA2-lacking, calcium-permeable AMPA receptors--inducers of plasticity?
Man, H.-Y. (2011) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2011.01.001 · Cited by 142 · see citing works
Xiao, S., MacNair, L., McGoldrick, P., McKeever, P. M., McLean, J. R., Zhang, M., Keith, J. L., Zinman, L. H., Rogaeva, E. A., & Robertson, J. (2015) · Annals of Neurology · doi:10.1002/ana.24469 · Cited by 139 · see citing works
Henstridge, C. M., Sideris, D. I., Carroll, E., Rotariu, S., Salomonsson, S. E., Tzioras, M., McKenzie, C.-A., Smith, C., Arnim, C. A. F. V., Ludolph, A. C., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1797-4 · Cited by 136 · see citing works
Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity
Woo, J. A., Liu, T., Trotter, C., Fang, C. C., Narvaez, E. D., LePochat, P., Maslar, D., Bukhari, A., Zhao, X., Deonarine, A., et al. (2017) · Nature Communications · doi:10.1038/ncomms15558 · Cited by 135 · see citing works
Yang, D., Abdallah, A., Li, Z., Lu, Y., Almeida, S., & Gao, F. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1448-6 · Cited by 134 · see citing works
A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis
Pascuzzi, R. M., Shefner, J. M., Chappell, A. S., Bjerke, J. S., Tamura, R., Chaudhry, V., Clawson, L., Haas, L., & Rothstein, J. D. (2009) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482960903307805 · Cited by 134 · see citing works
Madill, M., McDonagh, K., Ma, J., Vajda, A., McLoughlin, P., O’Brien, T., Hardiman, O., & Shen, S. (2017) · Molecular Brain · doi:10.1186/s13041-017-0300-4 · Cited by 134 · see citing works
The Puzzling Case of Hyperexcitability in Amyotrophic Lateral Sclerosis
Bae, J. S., Simon, N. G., Menon, P., Vucic, S., & Kiernan, M. C. (2013) · Journal of Clinical Neurology · doi:10.3988/jcn.2013.9.2.65 · Cited by 133 · see citing works
de Carvalho, M. A., Pinto, S., Costa, J. N., Evangelista, T., Ohana, B., & Pinto, A. C. (2010) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2010.498521 · Cited by 125 · see citing works
Hippocampus-specific deficiency in RNA editing of GluA2 in Alzheimer's disease
Gaisler‐Salomon, I., Kravitz, E., Feiler, Y., Safran, M., Biegon, A. R., Amariglio, N., & Rechavi, G. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.02.018 · Cited by 119 · see citing works
TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2
Aizawa, H., Sawada, J., Hideyama, T., Yamashita, T., Katayama, T., Hasebe, N., Kimura, T., Yahara, O., & Kwak, S. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0678-x · Cited by 117 · see citing works
Viral-Induced Spinal Motor Neuron Death Is Non-Cell-Autonomous and Involves Glutamate Excitotoxicity
Darman, J., Backovic, S., Dike, S., Maragakis, N. J., Krishnan, C., Rothstein, J. D., Irani, D. N., & Kerr, D. A. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.2002-04.2004 · Cited by 115 · see citing works
Decker, J., Krüger, L., Sydow, A., Dennissen, F. J., Šišková, Z., Mandelkow, E., & Mandelkow, E. (2016) · EMBO Reports · doi:10.15252/embr.201541439 · Cited by 115 · see citing works
Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD
Khosravi, B., Hartmann, H., May, S., Möhl, C., Ederle, H., Michaelsen, M., Schludi, M. H., Dormann, D., & Edbauer, D. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw432 · Cited by 113 · see citing works
Neuronal and glial cell biology Editorial overview
Kelly, R. B., & Reichardt, L. F. (1994) · Current Opinion in Neurobiology · doi:10.1016/0959-4388(94)90001-9 · Cited by 111 · see citing works
Belly, A., Moreau-Gachelin, F., Sadoul, R., & Goldberg, Y. (2005) · Neuroscience Letters · doi:10.1016/j.neulet.2004.12.071 · Cited by 107 · see citing works
Gendron, T. F., van Blitterswijk, M., Bieniek, K. F., Daughrity, L. M., Jiang, J., Rush, B. K., Pedraza, O., Lucas, J. A., Murray, M. E., Desaro, P., et al. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1474-4 · Cited by 106 · see citing works
Berry, J. D., Shefner, J. M., CONWIT, R. A., Schoenfeld, D., Keroack, M. D., Felsenstein, D., Krivickas, L. S., David, W. S., Vriesendorp, F. J., Pestronk, A., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0061177 · Cited by 106 · see citing works
Coyne, A. N., Lorenzini, I., Chou, C., Torvund, M., Rogers, R. S., Starr, A., Zaepfel, B. L., Levy, J., Johannesmeyer, J., Schwartz, J. C., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.09.028 · Cited by 102 · see citing works
Self-citationEarly and Persistent Abnormal Decoding by Glial Cells at the Neuromuscular Junction in an ALS Model
Arbour, D., Tremblay, E., Martineau, É., Julien, J., & Robitaille, R. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.1379-14.2015 · Cited by 101 · see citing works
Neuronal and glial cell biology
Barres, B. A., & Barde, Y. (2000) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(00)00134-3 · Cited by 101 · see citing works
Melcher, T., Maas, S., Higuchi, M., Keller, W., & Seeburg, P. H. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.15.8566 · Cited by 99 · see citing works
Maharjan, N., Künzli, C., Buthey, K., & Saxena, S. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9850-1 · Cited by 99 · see citing works
Excitatory amino acids in amyotrophic lateral sclerosis: An update
Rothstein, J. D., Kuncl, R. W., Chaudhry, V., Clawson, L., Cornblath, D. R., Coyle, J. T., & Drachman, D. B. (1991) · Annals of Neurology · doi:10.1002/ana.410300223 · Cited by 96 · see citing works
Yokoi, S., Udagawa, T., Fujioka, Y., Honda, D., Okado, H., Watanabe, H., Katsuno, M., Ishigaki, S., & Sobue, G. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.08.100 · Cited by 96 · see citing works
Rojas, F., González, D., Cortés, N., Ampuero, E., Hernández, D. E., Fritz, E., Abarzúa, S., Martinez, A. N., Elorza, Á. A., Alvarez, A. R., et al. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00203 · Cited by 95 · see citing works
Burguete, A. S., Almeida, S., Gao, F., Kalb, R. G., Akins, M. R., & Bonini, N. M. (2015) · eLife · doi:10.7554/elife.08881 · Cited by 94 · see citing works
Lai, C., Xie, C., McCormack, S. G., Chiang, H., Michalak, M. K., Lin, X. Z., Chandran, J. S., Shim, H., Shimoji, M., Cookson, M., et al. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2084-06.2006 · Cited by 93 · see citing works
Kim, J., Hughes, E. G., Shetty, A. S., Arlotta, P., Goff, L. A., Bergles, D. E., & Brown, S. P. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.0811-17.2017 · Cited by 92 · see citing works
The function of RNA-binding proteins at the synapse: implications for neurodegeneration
Sephton, C. F., & Yu, G. (2015) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-015-1943-x · Cited by 91 · see citing works
Memantine prolongs survival in an amyotrophic lateral sclerosis mouse model
Wang, R., & Zhang, D. (2005) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2005.04431.x · Cited by 90 · see citing works
Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation
Coyne, A. N., Yamada, S. B., Siddegowda, B. B., Estes, P. S., Zaepfel, B. L., Johannesmeyer, J., Lockwood, D. B., Pham, L. T., Hart, M. P., Cassel, J. A., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv389 · Cited by 90 · see citing works
Cortical Function in Asymptomatic Carriers and Patients WithC9orf72Amyotrophic Lateral Sclerosis
Geevasinga, N., Menon, P., Nicholson, G. A., Ng, K., Howells, J., Kril, J. J., Yiannikas, C., Kiernan, M. C., & Vucic, S. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2015.1872 · Cited by 88 · see citing works
Warmus, B. A., Sekar, D., McCutchen, E., Schellenberg, G., Roberts, R., McMahon, L. L., & Roberson, E. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.3418-14.2014 · Cited by 84 · see citing works
Rab8, POSH, and TAK1 regulate synaptic growth in a Drosophila model of frontotemporal dementia
West, R. J. H., Lu, Y., Marie, B., Gao, F., & Sweeney, S. T. (2015) · The Journal of Cell Biology · doi:10.1083/jcb.201404066 · Cited by 84 · see citing works
Yamashita, T., & Kwak, S. (2013) · Brain Research · doi:10.1016/j.brainres.2013.12.011 · Cited by 82 · see citing works
Washburn, M. C., Kakaradov, B., Sundararaman, B., Wheeler, E. C., Hoon, S. S., Yeo, G. W.-M., & Hundley, H. A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.01.011 · Cited by 81 · see citing works
Ryberg, H., Askmark, H., & Persson, L. (2003) · Acta Neurologica Scandinavica · doi:10.1034/j.1600-0404.2003.00111.x · Cited by 78 · see citing works
Role and Therapeutic Potential of Astrocytes in Amyotrophic Lateral Sclerosis
Pehar, M., Harlan, B. A., Killoy, K. M., & Vargas, M. R. (2018) · Current Pharmaceutical Design · doi:10.2174/1381612823666170622095802 · Cited by 77 · see citing works
Gong, Y., & Lippa, C. F. (2010) · American Journal of Alzheimer's Disease & Other Dementias® · doi:10.1177/1533317510382893 · Cited by 76 · see citing works
Fogarty, M. J., Mu, E. W. H., Noakes, P. G., Lavidis, N. A., & Bellingham, M. C. (2016) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0347-y · Cited by 76 · see citing works
Comley, L. H., Allodi, I., Nichterwitz, S., Nizzardo, M., Simoné, C., Corti, S. P., & Hedlund, E. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2015.02.013 · Cited by 75 · see citing works
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2
Gorrie, G., Fecto, F., Radzicki, D., Weiss, C., Shi, Y., Dong, H., Zhai, H., Fu, R., Liu, E., Li, S., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405741111 · Cited by 75 · see citing works
Arbour, D., Velde, C. V., & Robitaille, R. (2016) · The Journal of Physiology · doi:10.1113/jp270213 · Cited by 75 · see citing works
The GluR2 hypothesis: Ca(++)-permeable AMPA receptors in delayed neurodegeneration.
Bennett, M. V. L., Pellegrini-Giampietro, D. E., Gorter, J. A., Aronica, E., Connor, J. A., & Zukin, R. S. (1996) · PubMed · Cited by 74 · see citing works
Shahidullah, M., Marchand, S. J. L., Hong, F., Zhang, J., Pandey, U. B., Dalva, M. B., Pasinelli, P., & Levitan, I. B. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3396-13.2013 · Cited by 74 · see citing works
Do‐Ha, D., Buskila, Y., & Ooi, L. (2017) · Molecular Neurobiology · doi:10.1007/s12035-017-0392-y · Cited by 74 · see citing works
Early presymptomatic cholinergic dysfunction in a murine model of amyotrophic lateral sclerosis
Casas, C., Herrando‐Grabulosa, M., Manzano, R., Mancuso, R., Osta, R., & Navarro, X. (2013) · Brain and Behavior · doi:10.1002/brb3.104 · Cited by 73 · see citing works
Kawahara, Y., Ito, K., Sun, H., Kanazawa, I., & Kwak, S. (2003) · European Journal of Neuroscience · doi:10.1046/j.1460-9568.2003.02718.x · Cited by 73 · see citing works
Tremblay, E., Martineau, É., & Robitaille, R. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3090-16.2017 · Cited by 73 · see citing works
Role of the N-methyl-d-aspartate receptors complex in amyotrophic lateral sclerosis
Spalloni, A., Nutini, M., & Longone, P. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2012.11.013 · Cited by 72 · see citing works
Akamatsu, M., Yamashita, T., Hirose, N., Teramoto, S., & Kwak, S. (2016) · Scientific Reports · doi:10.1038/srep28649 · Cited by 72 · see citing works
Perry, S., Han, Y., Das, A., & Dickman, D. K. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx304 · Cited by 72 · see citing works
Morphological changes of glutamatergic synapses in animal models of Parkinson’s disease
Villalba, R. M., Mathai, A., & Smith, Y. (2015) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2015.00117 · Cited by 69 · see citing works
Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity
Daigle, J. G., Krishnamurthy, K., Ramesh, N., Casci, I., Monaghan, J., McAvoy, K. J., Godfrey, E. W., Daniel, D. C., Johnson, E. M., Monahan, Z. T., et al. (2016) · Acta Neuropathologica · doi:10.1007/s00401-015-1530-0 · Cited by 69 · see citing works
ALS and FTD: an epigenetic perspective
Belzil, V., Katzman, R. B., & Petrucelli, L. (2016) · Acta Neuropathologica · doi:10.1007/s00401-016-1587-4 · Cited by 69 · see citing works
Glial Cells and Integrity of the Nervous System
von Bernhardi, R., Eugenín-von Bernhardi, J., Flores, B., & Eugenín León, J. (2016) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-319-40764-7_1 · Cited by 67 · see citing works
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
van Blitterswijk, M., Vlam, L., van Es, M. A., van der Pol, W. L., Hennekam, E. A. M., Dooijes, D., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., Veldink, J. H., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048983 · Cited by 65 · see citing works
The UPR and synaptic dysfunction in neurodegeneration
Freeman, O. J., & Mallucci, G. R. (2016) · Brain Research · doi:10.1016/j.brainres.2016.03.029 · Cited by 64 · see citing works
Motor Areas Show Altered Dendritic Structure in an Amyotrophic Lateral Sclerosis Mouse Model
Fogarty, M. J., Mu, E. W. H., Lavidis, N. A., Noakes, P. G., & Bellingham, M. C. (2017) · Frontiers in Neuroscience · doi:10.3389/fnins.2017.00609 · Cited by 62 · see citing works
Lasiene, J., Komine, O., Fujimori-Tonou, N., Powers, B. E., Endo, F., Watanabe, S., Jin, S., Ravits, J., Horner, P. J., Misawa, H., et al. (2016) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0286-7 · Cited by 61 · see citing works
Paul, P., & de Belleroche, J. (2014) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2014.00010 · Cited by 58 · see citing works
Axonal Excitability in Amyotrophic Lateral Sclerosis
Park, S. B., Kiernan, M. C., & Vucic, S. (2016) · Neurotherapeutics · doi:10.1007/s13311-016-0492-9 · Cited by 57 · see citing works
Translational control at the synapse: role of RNA regulators
Iacoangeli, A., & Tiedge, H. (2012) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2012.11.001 · Cited by 56 · see citing works
Ruegsegger, C., Maharjan, N., Goswami, A., de L’Etang, A. F., Weis, J., Troost, D., Heller, M., Gut, H., & Saxena, S. (2015) · Acta Neuropathologica · doi:10.1007/s00401-015-1510-4 · Cited by 55 · see citing works
Larroquette, F., Seto, L., Gaub, P., Kamal, B., WALLIS, D. E., Larivière, R., Vallée, J., Robitaille, R., & Tsuda, H. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv360 · Cited by 53 · see citing works
Axonal Dysfunction Precedes Motor Neuronal Death in Amyotrophic Lateral Sclerosis
Iwai, Y., Shibuya, K., Misawa, S., Sekiguchi, Y., Watanabe, K., Amino, H., & Kuwabara, S. (2016) · PLoS ONE · doi:10.1371/journal.pone.0158596 · Cited by 53 · see citing works
Memory, plasticity and sleep - A role for calcium permeable AMPA receptors?
Shepherd, J. D. (2012) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2012.00049 · Cited by 49 · see citing works
Rzhepetskyy, Y., Łaźniewska, J., Blesneac, I., Pamphlett, R., & Weiss, N. (2016) · Channels · doi:10.1080/19336950.2016.1204497 · Cited by 49 · see citing works
Shibuya, K., Misawa, S., Kimura, H., Noto, Y., Sato, Y., Sekiguchi, Y., Iwai, Y., Mitsuma, S., Beppu, M., Watanabe, K., et al. (2015) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2015.1038277 · Cited by 45 · see citing works
Analysis of AMPA receptor subunit mRNA expression in control and ALS spinal cord
Virgo, L., Samarasinghe, S., & de Belleroche, J. (1996) · Neuroreport · doi:10.1097/00001756-199611040-00021 · Cited by 45 · see citing works
Joo, I.-S., Hwang, D.-H., Seok, J. I., Shin, S.-K., & Kim, S. U. (2007) · Journal of Clinical Neurology · doi:10.3988/jcn.2007.3.4.181 · Cited by 45 · see citing works
Axonal Ion Channel Dysfunction inC9orf72Familial Amyotrophic Lateral Sclerosis
Geevasinga, N., Menon, P., Howells, J., Nicholson, G. A., Kiernan, M. C., & Vucic, S. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.2940 · Cited by 44 · see citing works
Chronological requirements of TDP-43 function in synaptic organization and locomotive control
Romano, G., Klima, R., Buratti, E., Verstreken, P., Baralle, F. E., & Feiguin, F. M. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.07.007 · Cited by 43 · see citing works
Mahajan, S. S., Thai, K. H., Chen, K., & Ziff, E. B. (2011) · Neuroscience · doi:10.1016/j.neuroscience.2011.05.027 · Cited by 41 · see citing works
Filipchuk, A., & Durand, J. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.01.046 · Cited by 41 · see citing works
Milan, L., Courtand, G., Cardoit, L., Masmejean, F., Barrière, G., Cazalets, J., Garret, M., & Bertrand, S. S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0135525 · Cited by 39 · see citing works
Chang, Q., & Martin, L. J. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.04.009 · Cited by 39 · see citing works
Aizawa, H., Hideyama, T., Yamashita, T., Kimura, T., Suzuki, N., Aoki, M., & Kwak, S. (2016) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2015.12.039 · Cited by 39 · see citing works
Sgobio, C., Trabalza, A., Spalloni, A., Zona, C., Carunchio, I., Longone, P., & Ammassari‐Teule, M. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00367.x · Cited by 38 · see citing works
Paul, P., & de Belleroche, J. (2015) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2014.12.040 · Cited by 36 · see citing works
Herranz-Martín, S., Chandran, J. S., Lewis, K. E. A., Mulcahy, P. J., Higginbottom, A., Walker, C., y Valenzuela, I. M.-P., Jones, R. A., Coldicott, I., Iannitti, T., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.029892 · Cited by 36 · see citing works
Spalloni, A., Origlia, N., Sgobio, C., Trabalza, A., Nutini, M., Berretta, N., Bernardi, G., Domenici, L., Ammassari‐Teule, M., & Longone, P. (2010) · Cerebral Cortex · doi:10.1093/cercor/bhq152 · Cited by 35 · see citing works
Cortical hyperexcitability in patients withC9ORF72mutations: Relationship to phenotype
Schanz, O., Bageac, D. V., Braun, L. E., Traynor, B. J., Lehky, T., & Floeter, M. K. (2016) · Muscle & Nerve · doi:10.1002/mus.25047 · Cited by 34 · see citing works
Vernay, A., Therreau, L., Blot, B., Risson, V., Dirrig‐Grosch, S., Waegaert, R., Lequeu, T., Sellal, F., Schaeffer, L., Sadoul, R., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw182 · Cited by 32 · see citing works
Hideyama, T., Teramoto, S., Hachiga, K., Yamashita, T., & Kwak, S. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043469 · Cited by 28 · see citing works
PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons
Yang, D., Wang, X.-L., Ismail, A., Ashman, C. J., Valori, C. F., Wang, G., Gao, S., Higginbottom, A., Ince, P. G., Azzouz, M., et al. (2014) · Cell Death and Disease · doi:10.1038/cddis.2014.55 · Cited by 25 · see citing works
Shiihashi, G., Ito, D., Arai, I., Kobayashi, Y., Hayashi, K., Otsuka, S., Nakajima, K., Yuzaki, M., Itohara, S., & Suzuki, N. (2017) · EBioMedicine · doi:10.1016/j.ebiom.2017.09.005 · Cited by 25 · see citing works
Kiernan, M. C. (2009) · Experimental Neurology · doi:10.1016/j.expneurol.2009.03.039 · Cited by 23 · see citing works
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2 of the 211 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Geevasinga N 2015c Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis JAMA Neurol 1 7 PMC4707047 26348842
- Rothstein JD 1991 Excitatory amino acids in ALS: an update Ann. Neurol 30 224 225 1680305
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Wilson, D. M., Cookson, M. R., Van Den Bosch, L., Zetterberg, H., Holtzman, D. M., & Dewachter, I. (2023) · Cell · doi:10.1016/j.cell.2022.12.032 · Cited by 1,789 · see citing works
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Westergard, T., McAvoy, K., Russell, K. A., Wen, X., Pang, Y., Verdone, B. M., Pasinelli, P., Trotti, D., & Haeusler, A. R. (2019) · EMBO Molecular Medicine · doi:10.15252/emmm.201809423 · Cited by 121 · see citing works
Liu, W., Venugopal, S., Majid, S., Ahn, I. S., Diamante, G., Hong, J. S., Yang, X., & Chandler, S. H. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104877 · Cited by 86 · see citing works
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Yan, X., Wang, B., Hu, Y., Wang, S., & Zhang, X. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.00138 · Cited by 74 · see citing works
Impact of guanidine-containing backbone linkages on stereopure antisense oligonucleotides in the CNS
Pachamuthu, K., Liu, Y., Aduda, V., Akare, S., Alam, R., Andreucci, A., Boulay, D., Bowman, K., Byrne, M., Cannon, M., et al. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac037 · Cited by 73 · see citing works
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Gleixner, A. M., Verdone, B. M., Otte, C. G., Anderson, E. N., Ramesh, N., Shapiro, O. R., Gale, J. R., Mauna, J. C., Mann, J. R., Copley, K. E., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31098-6 · Cited by 68 · see citing works
Clarke, M. T. M., Brinkmalm, A., Foiani, M. S., Woollacott, I. O. C., Heller, C., Heslegrave, A., Keshavan, A., Fox, N. C., Schott, J. M., Warren, J. D., et al. (2019) · Alzheimer's Research & Therapy · doi:10.1186/s13195-019-0564-2 · Cited by 58 · see citing works
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Angelova, P. R. (2021) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2021.07.003 · Cited by 64 · see citing works
Perkins, E. M., Burr, K., Banerjee, P., Mehta, A. R., Dando, O., Selvaraj, B. T., Suminaite, D., Nanda, J., Henstridge, C. M., Gillingwater, T. H., et al. (2021) · Molecular Neurodegeneration · doi:10.1186/s13024-021-00433-8 · Cited by 54 · see citing works
Orr, B. O., Hauswirth, A. G., Celona, B., Fetter, R. D., Zunino, G., Kvon, E. Z., Zhu, Y., Pennacchio, L. A., Black, B. L., & Davis, G. W. (2020) · Neuron · doi:10.1016/j.neuron.2020.04.009 · Cited by 57 · see citing works
Huber, N., Korhonen, S., Hoffmann, D. B., Leskelä, S., Rostalski, H., Remes, A. M., Honkakoski, P., Solje, E., & Haapasalo, A. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01384-8 · Cited by 55 · see citing works
Kim, B. W., Ryu, J., Jeong, Y. E., Kim, J., & Martin, L. J. (2020) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.604171 · Cited by 53 · see citing works
Xu, W., & Xu, J. (2018) · Journal of Neuroscience · doi:10.1523/jneurosci.0908-18.2018 · Cited by 49 · see citing works
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Podvin, S., Jones, A. C., Liu, Q., Aulston, B. D., Ransom, L., Ames, J., Shen, G., Lietz, C. B., Jiang, Z., O’Donoghue, A. J., et al. (2020) · Molecular & Cellular Proteomics · doi:10.1074/mcp.ra120.002079 · Cited by 47 · see citing works
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Vicidomini, C., Fontanella, F., D’Alessandro, T., & Roviello, G. N. (2024) · Biomolecules · doi:10.3390/biom14101330 · Cited by 43 · see citing works
Sogorb-Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., van Swieten, J. C., Seelaar, H., et al. (2022) · Alzheimer's Research & Therapy · doi:10.1186/s13195-022-01042-3 · Cited by 39 · see citing works
Martín-Cámara, O., Cores, Á., López‐Alvarado, P., & Menéndez, J. C. (2021) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2021.113742 · Cited by 39 · see citing works
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Broadhead, M. J., Bonthron, C., Waddington, J., Smith, W. V., Lopez, M. F., Burley, S., Valli, J., Zhu, F., Komiyama, N. H., Smith, C., et al. (2022) · Acta Neuropathologica · doi:10.1007/s00401-022-02412-9 · Cited by 39 · see citing works
László, Z. I., Hindley, N., Avila, A. S., Kline, R., Eaton, S. L., Lamont, D. J., Smith, C., Spires‐Jones, T. L., Wishart, T. M., & Henstridge, C. M. (2022) · Acta Neuropathologica Communications · doi:10.1186/s40478-022-01455-z · Cited by 38 · see citing works
Bolsewig, K., Hok-A-Hin, Y. S., Sepe, F. N., Boonkamp, L., Jacobs, D., Bellomo, G., Paoletti, F. P., Vanmechelen, E., Teunissen, C. E., Parnetti, L., et al. (2022) · Journal of Alzheimer's Disease · doi:10.3233/jad-220318 · Cited by 36 · see citing works
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Xylaki, M., Atzler, B., & Outeiro, T. F. (2019) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-019-0995-y · Cited by 34 · see citing works
Bakkar, N., Starr, A., Rabichow, B. E., Lorenzini, I., McEachin, Z. T., Kraft, R., Chaung, M., Macklin-Isquierdo, S., Wingfield, T., Carhart, B., et al. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105228 · Cited by 34 · see citing works
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Phillips, H. L., Dai, H., Choi, S. Y., Jansen‐West, K. R., Zajicek, A. S., Daly, L., Petrucelli, L., Gao, F., & Yao, W. (2023) · Neuron · doi:10.1016/j.neuron.2022.12.027 · Cited by 29 · see citing works
Tischbein, M., Baron, D. M., Lin, Y., Gall, K. V., Landers, J. E., Fallini, C., & Bosco, D. A. (2019) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.005933 · Cited by 29 · see citing works
Benson, B. C., Shaw, P. J., Azzouz, M., Highley, J. R., & Hautbergue, G. M. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.783624 · Cited by 28 · see citing works
Ranieri, F., Mariotto, S., Dubbioso, R., & Lazzaro, V. D. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2020.605335 · Cited by 28 · see citing works
Guillaud, L., Garanzini, A., Zakhia, S., de la Fuente, S., Dimitrov, D., Boerner, S., & Terenzio, M. (2025) · Science Advances · doi:10.1126/sciadv.adq6077 · Cited by 27 · see citing works
Hosaka, T., Tsuji, H., & Kwak, S. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222010958 · Cited by 26 · see citing works
Karagianni, K., Pettas, S., Christoforidou, G., Kanata, Ε., Bekas, N., Xanthopoulos, K., Dafou, D., & Sklaviadis, T. (2022) · Biomolecules · doi:10.3390/biom12030465 · Cited by 24 · see citing works
Dong, D., Zhang, Z., Li, Y., Latallo, M. J., Wang, S., Nelson, B., Wu, R., Krishnan, G., Gao, F., Wu, B., et al. (2024) · Science Signaling · doi:10.1126/scisignal.adl1030 · Cited by 22 · see citing works
van der Geest, A. T., Jakobs, C. E., Ljubikj, T., Huffels, C. F. M., Luna, M. C., de Sá, R. V., Adolfs, Y., de Wit, M., Rutten, D. H., Kaal, M., et al. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01857-1 · Cited by 23 · see citing works
Lall, D., Workman, M. J., Sances, S., Ondatje, B. N., Bell, S., Lawless, G. M., Woodbury, A., West, D., Meyer, A. S., Matlock, A. D., et al. (2025) · Cell stem cell · doi:10.1016/j.stem.2025.05.015 · Cited by 24 · see citing works
Vocht, J. D., Weehaeghe, D. V., Ombelet, F., Masrori, P., Lamaire, N., Devrome, M., Esch, H. V., Moisse, M., Koole, M. J. B., Dupont, P. J., et al. (2023) · Cells · doi:10.3390/cells12060933 · Cited by 22 · see citing works
Amalyan, S., Tamboli, S., Lazarevich, I. A., Topolnik, D., Bouman, L. H., & Topolnik, L. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.111043 · Cited by 19 · see citing works
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Kahriman, A., Bouley, J., Tuncali, I., Dogan, E. O., Pereira, M., Luu, T., Bosco, D. A., Jaber, S., Peters, O. M., Brown, R. H., et al. (2023) · Brain · doi:10.1093/brain/awad264 · Cited by 16 · see citing works
Reyes‐Leiva, D., Dols‐Icardo, O., Sirisi, S., Cortés‐Vicente, E., Turón‐Sans, J., de Luna, N., Blesa, R., Belbin, O., Montal, V., Alcolea, D. A., et al. (2022) · Frontiers in Neurology · doi:10.3389/fneur.2021.750543 · Cited by 15 · see citing works
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Ghaffari, L., Trotti, D., Haeusler, A. R., & Jensen, B. K. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1005112 · Cited by 15 · see citing works
Oskarsson, B., Mauricio, E. A., Shah, J., Li, Z., & Rogawski, M. A. (2021) · Muscle & Nerve · doi:10.1002/mus.27328 · Cited by 15 · see citing works
Lü, M., Ward, E., van Tartwijk, F. W., & Kaminski, C. F. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105475 · Cited by 15 · see citing works
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Parakh, S., Perri, E. R., Jagaraj, C. J., Ragagnin, A., & Atkin, J. D. (2018) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2018.1553926 · Cited by 15 · see citing works
Fisher, R. M. A., & Torrente, M. P. (2024) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2024.1456052 · Cited by 14 · see citing works
Kaliszewska, A., Allison, J., Col, T.-T., Shaw, C. E., & Arias, N. (2021) · The Cerebellum · doi:10.1007/s12311-021-01320-0 · Cited by 14 · see citing works
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Salzinger, A., Ramesh, V., Sharma, S. D., Chandran, S., & Selvaraj, B. T. (2024) · Cells · doi:10.3390/cells13100792 · Cited by 12 · see citing works
Limanaqi, F., Busceti, C. L., Biagioni, F., Cantini, F., Lenzi, P., & Fornai, F. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21114021 · Cited by 11 · see citing works
Krishnamurthy, K., & Pasinelli, P. (2021) · Journal of Neuroscience Research · doi:10.1002/jnr.24824 · Cited by 8 · see citing works
Pasniceanu, I.-S., Atwal, M. S., Souza, C. D. S., Ferraiuolo, L., & Livesey, M. R. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.784833 · Cited by 7 · see citing works
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Bose, K., Maity, A., Ngo, K. H., Vandana, J. J., Shneider, N. A., & Phan, A. T. (2022) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2022.03.162 · Cited by 6 · see citing works
Sebastiano, D. R., Cazzato, D., Visani, E., Bella, E. D., Brambilla, L., Devigili, G., Caroppo, P., Maggi, L., Nanetti, L., Salsano, E., et al. (2022) · Neurological Sciences · doi:10.1007/s10072-022-06236-z · Cited by 6 · see citing works
Cerebrospinal fluid from frontotemporal dementia patients is toxic to neurons
Spalloni, A., Caioli, S., Bonomi, E., Zona, C., Buratti, E., Alberici, A., Borroni, B., & Longone, P. (2021) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2021.166122 · Cited by 6 · see citing works
Array tomography: 15 years of synaptic analysis
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Masegosa, V. M., Navarro, X., & Herrando‐Grabulosa, M. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2024.e00319 · Cited by 5 · see citing works
Verdile, V., Palombo, R., Ferrante, G., Ferri, A., Amadio, S., Volonté, C., & Paronetto, M. P. (2023) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2023.102529 · Cited by 5 · see citing works
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., Borroni, B., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-1188941/v1 · Cited by 5 · see citing works
Wal, P., Dutta, A., Jawaid, T., Rahman, M. U., Gowri, K., Jyothi, S. R., Kaur, I., Al-Hasnaawei, S., Sinha, A., Maharana, L., et al. (2026) · Biogerontology · doi:10.1007/s10522-026-10394-4 · Cited by 4 · see citing works
Horio, T., Ishikura, Y., Ohashi, R., & Shiina, N. (2023) · Heliyon · doi:10.1016/j.heliyon.2023.e17065 · Cited by 4 · see citing works
Shen, T., Vogel, J. W., Deerlin, V. M. V., Suh, E. R., Dratch, L., Phillips, J. S., Massimo, L. M., Lee, E. B., Irwin, D. J., & McMillan, C. T. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00806-3 · Cited by 4 · see citing works
Stocks, J. K., Gibson, E., Popuri, K., Beg, M. F., Rosen, H. J., & Wang, L. (2024) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000611 · Cited by 3 · see citing works
Dissanayake, K. N., Redman, R. R., Mackenzie, H., Eddleston, M., & Ribchester, R. R. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.937974 · Cited by 4 · see citing works
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Tian, Y., Heinsinger, N. M., Hu, Y., Lim, U.-M., Wang, Y., Fernandis, A. Z., Parmentier‐Batteur, S., Klein, B., Uslaner, J. M., & Smith, S. M. (2024) · PLoS ONE · doi:10.1371/journal.pone.0308428 · Cited by 2 · see citing works
Sahadevan, S., Hembach, K., Tantardini, E., Pérez‐Berlanga, M., Hruška-Plocháň, M., Weber, J., Schwarz, P., Dupuis, L., Robinson, M. D., Rossi, P. D., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.10.136010 · Cited by 2 · see citing works
Luan, W., Gil, R. S., Martin, L. M. S., Cao, M. C., Vassallu, F., Venturato, J., West, P. K., Brown-Wright, H., Bademosi, A. T., Chye, Y. J., et al. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02150-5 · Cited by 1 · see citing works
Luan, W., Gil, R. S., Martin, L. M. S., Cao, M. C., Vassallu, F., Brown-Wright, H., Bademosi, A. T., Chye, Y. J., Wu, H. Y., Chang, M. S., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.04.641357 · Cited by 1 · see citing works
Advances in genetics research in the pathogenesis of amyotrophic lateral sclerosis.
Wang, Y., Yi, H., Liao, Q., & Bi, F. (2020) · PubMed · doi:10.11817/j.issn.1672-7347.2020.190506
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., Borroni, B., et al. (2022) · Research Square · doi:10.21203/rs.3.rs-1188941/v2
Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic bvFTDPreprint
Shen, T., Vogel, J. W., Deerlin, V. M. V., Suh, E. R., Dratch, L., Phillips, J. S., Massimo, L. M., Lee, E. B., Irwin, D. J., & McMillan, C. T. (2024) · medRxiv · doi:10.1101/2024.07.25.24310894
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20762867
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20762873
Sogorb‐Esteve, A., Nilsson, J., Swift, I. J., Heller, C., Bocchetta, M., Russell, L. L., Peakman, G., Convery, R. S., Swieten, J. C. V., Seelaar, H., et al. (2022) · Figshare · doi:10.6084/m9.figshare.20762870
Embryological Origins and Genetics in Frontotemporal Dementia
Hayırlıoğlu, Z., YÜCEL, Z., & YÜKSEL, E. B. (2025) · Ahi Evran Medical Journal · doi:10.46332/aemj.1652578
Étude de la composante neuroinflammatoire dans les DFT/SLA
Smeyers, J. (2020) · theses.fr (ABES) · doi:10.70675/219cfa6fz5b3az4198z9deczdfaad3cd784c
Luan, J., Yun, Y., Jiao, Y., Wang, Y., Ma, M., Shan, D., Wang, H., Ji, X., Tang, Y., Li, J., et al. (2026) · Journal of Cachexia Sarcopenia and Muscle · doi:10.1002/jcsm.70411
- Authors
- Starr, A., & Sattler, R.
- Affiliations
- Barrow Neurological Institute (US)
- Corresponding author
- Sattler, Rita
- Venue
- Brain Research
- Publisher
- Elsevier BV
- Published
- 2018-08
- Volume
- 1693
- Issue
- Pt A
- Pages
- 98-108
- ISSN
- 0006-8993 (ISSN-L)
- PMC
- PMC5997509
- OpenAlex
- W2790884408
- Cited by
- 78
- References
- 211
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 9 · 2023: 7 · 2022: 21 · 2021: 15 · 2020: 10 · 2019: 5 · 2018: 3
- FWCI
- 1.30
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Brain Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- Fogarty International Center
- National Institute of Neurological Disorders and Stroke (R01NS085207)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- C9orf72, amyotrophic lateral sclerosis, frontotemporal dementia, synaptic dysfunction, neuronal excitability, excitotoxicity, RNA-binding proteins, hexanucleotide repeat expansion, dipeptide repeat proteins, repeat-associated non-ATG translation, RNA foci, neuromuscular junction, synaptogenesis, motor neurons, therapeutic target
- MeSH terms
- C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, Humans, Motor Neurons, Mutation, RNA, Synapses, RNA-Binding Proteins, Frontotemporal Dementia
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