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TDP ‐ 43 mutation in familial amyotrophic lateral sclerosis
Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Accumulating evidence has shown that 43kDa TAR‐DNA–binding protein (TDP‐43) is the disease protein in ALS and frontotemporal lobar degeneration. We previously reported a familial ALS with Bumina bodies and TDP‐43‐positive skein‐like inclusions in the lower motor neurons; these findings are indistinguishable from those of sporadic ALS. In three affected individuals in two generations of one family, we found a single base‐pair change from A to G at position 1028 in TDP‐43, which resulted in a Gln‐to‐Arg substitution at position 343. Our findings provide a new insight into the molecular pathogenesis of ALS. Ann Neurol 2008;63:538–542
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“Mutations in TARDBP, which encodes the transactive response DNA binding protein 43 kDa (TDP-43), are the third most common cause of familial autosomal dominant ALS and account for rare cases of sporadic ALS [290–293].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [293]
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Cites
Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.22.4673 · Cited by 64,617
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
Arai, T., Hasegawa, M., Akiyama, H., Ikeda, K., Nonaka, T., Mori, H., Mann, D., Tsuchiya, K., Yoshida, M., Hashizume, Y., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2006.10.093 · Cited by 2,732
α-Synuclein is phosphorylated in synucleinopathy lesions
Fujiwara, H., Hasegawa, M., Dohmae, N., Kawashima, A., Masliah, E., Goldberg, M. S., Shen, J., Takio, K., & Iwatsubo, T. (2002) · Nature Cell Biology · doi:10.1038/ncb748 · Cited by 2,174
Mackenzie, I. R. A., Bigio, E. H., Ince, P. G., Geser, F., Neumann, M., Cairns, N. J., Kwong, L. K., Forman, M. S., Ravits, J., Stewart, H., et al. (2007) · Annals of Neurology · doi:10.1002/ana.21147 · Cited by 992
TDP-43 Binds Heterogeneous Nuclear Ribonucleoprotein A/B through Its C-terminal Tail
Buratti, E., Brindisi, A., Giombi, M., Tisminetzky, S. G., Ayala, Y. M., & Baralle, F. E. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m505557200 · Cited by 474
Progranulin Mediates Caspase-Dependent Cleavage of TAR DNA Binding Protein-43
Zhang, Y., Xu, Y.-F., Dickey, C. A., Buratti, E., Baralle, F. E., Bailey, R. M., Pickering-Brown, S. M., Dickson, D. W., & Petrucelli, L. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.3421-07.2007 · Cited by 371
UBIQUITIN-IMMUNOREACTIVE INTRANEURONAL INCLUSIONS IN AMYOTROPHIC LATERAL SCLEROSIS
Leigh, P. N., Whitwell, H., Garofalo, O., Buller, J., Swash, M., Martin, J., Gallo, J., Weller, R. O., & Anderton, B. H. (1991) · Brain · doi:10.1093/brain/114.2.775 · Cited by 331
Tan, C., Eguchi, H., Tagawa, A., Onodera, O., Iwasaki, T., Tsujino, A., Nishizawa, M., Kakita, A., & Takahashi, H. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0206-9 · Cited by 298
Self-citationKwong, L. K., Neumann, M., Sampathu, D. M., Lee, V. M. ‐., & Trojanowski, J. Q. (2007) · Acta Neuropathologica · doi:10.1007/s00401-007-0226-5 · Cited by 231
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Items 201–300 of 373
Nishihira, Y., Tan, C., Toyoshima, Y., Yonemochi, Y., Kondo, H., Nakajima, T., & Takahashi, H. (2009) · Neuropathology · doi:10.1111/j.1440-1789.2008.00999.x · Cited by 39
Self-citationMutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS
Kim, S. H., Stiles, S., Feichtmeier, J., Ramesh, N., Zhan, L., Scalf, M., Smith, L. M., Pandey, U. B., & Tibbetts, R. S. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx403 · Cited by 37
Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo
Tripathi, V. B., Baskaran, P., Shaw, C. E., & Guthrie, S. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.01.004 · Cited by 41
Kanazawa, M., Kakita, A., Igarashi, H., Takahashi, T., Kawamura, K., Takahashi, H., Nakada, T., Nishizawa, M., & Shimohata, T. (2010) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2010.06860.x · Cited by 38
Self-citationThe diagnosis of Amyotrophic lateral sclerosis in 2010.
Silani, V., Messina, S., Poletti, B., Morelli, C., Doretti, A., Ticozzi, N., & Maderna, L. (2011) · PubMed · doi:10.4449/aib.v149i1.1260 · Cited by 38
Uchida, T., Tamaki, Y., Ayaki, T., Shodai, A., Kaji, S., Morimura, T., Banno, Y., Nishitsuji, K., Sakashita, N., Maki, T., et al. (2016) · Scientific Reports · doi:10.1038/srep19118 · Cited by 41
Posa, D., Martínez‐González, L., Bartolomé, F. B., Nagaraj, S., Porras, G., Martı́nez, A., & Martín‐Requero, Á. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1249-8 · Cited by 37
Disease-modifying effects of metabolic perturbations in ALS/FTLD
Jawaid, A., Khan, R., Polymenidou, M., & Schulz, P. E. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0294-0 · Cited by 37
Amyotrophic Lateral Sclerosis Genes in Drosophila melanogaster
Layalle, S., They, L., Ourghani, S., Raoul, C., & Soustelle, L. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020904 · Cited by 36
Protein clearing pathways in ALS.
Ferrucci, M., Fulceri, F., Toti, L., Soldani, P., Siciliano, G., Paparelli, A., & Fornai, F. (2011) · PubMed · doi:10.4449/aib.v149i1.1258 · Cited by 35
Laferrière, F., & Polymenidou, M. (2015) · Swiss Medical Weekly · doi:10.4414/smw.2015.14054 · Cited by 43
Non-genetically modified models exhibit TARDBP mRNA increase due to perturbed TDP-43 autoregulation
Sugai, A., Kato, T., Koyama, A., Koike, Y. M., Konno, T., Ishihara, T., & Onodera, O. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.104534 · Cited by 34
Self-citationShodai, A., Ido, A., Fujiwara, N., Ayaki, T., Morimura, T., Oono, M., Uchida, T., Takahashi, R., Ito, H., & Urushitani, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052776 · Cited by 36
Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation
Fujita, Y., Ikeda, M., Yanagisawa, T., Senoo, Y., & Okamoto, K. (2011) · Neurology · doi:10.1212/wnl.0b013e318232ab87 · Cited by 35
Self-citationNovel TARDBP mutations in Nordic ALS patients
Chiang, H., Andersen, P. M., Tysnes, O., Gredal, O., Christensen, P., & Graff, C. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.24 · Cited by 36
Sreedharan, J., Blakeney, I., & Brown, R. H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00020-5 · Cited by 32
TDP ‐43 pathology in polyglutamine diseases: With reference to amyotrphic lateral sclerosis
Toyoshima, Y., & Takahashi, H. (2013) · Neuropathology · doi:10.1111/neup.12053 · Cited by 33
Self-citationRecent Advances in RNA Interference Therapeutics for CNS Diseases
Ramachandran, P. S., Keiser, M. S., & Davidson, B. L. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0183-8 · Cited by 31
Origone, P., Caponnetto, C., Poggio, M., Ghiglione, E., Bellone, E., Ferrandes, G., Mancardi, G., & Mandich, P. (2010) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482960903165039 · Cited by 30
TDP-43 in skeletal muscle of patients affected with amyotrophic lateral sclerosis
Sorarú, G., Orsetti, V., Buratti, E., Baralle, F. E., Cima, V., Volpe, M., D’Ascenzo, C., Palmieri, A., Koutsikos, K., Pegoraro, E., et al. (2009) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482960902810890 · Cited by 29
Biological Spectrum of Amyotrophic Lateral Sclerosis PrionsPreprint
Polymenidou, M., & Cleveland, D. W. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024133 · Cited by 29
Therapeutic Role of Neuregulin 1 Type III in SOD1-Linked Amyotrophic Lateral Sclerosis
Mòdol‐Caballero, G., García-Lareu, B., Verdés, S., Ariza, L., Sánchez-Brualla, I., Brocard, F., Bosch, A., Navarro, X., & Herrando‐Grabulosa, M. (2020) · Neurotherapeutics · doi:10.1007/s13311-019-00811-7 · Cited by 29
The right temporal variant of frontotemporal dementia is not genetically sporadic: a case series
Ulugut Erkoyun, H., van der Lee, S. J., Nijmeijer, B., van Spaendonk, R., Nelissen, A., Scarioni, M., Dijkstra, A., Samancı, B., Gürvit, H., Yıldırım, Z., et al. (2021) · Journal of Alzheimer’s Disease · doi:10.3233/jad-201191 · Cited by 24
ALS skin fibroblasts reveal oxidative stress and ERK1/2-mediated cytoplasmic localization of TDP-43
Romano, N., Catalani, A., Lattante, S., Belardo, A., Proietti, S., Bertini, L., Silvestri, F., Catalani, E., Cervia, D., Zolla, L., et al. (2020) · Cellular Signalling · doi:10.1016/j.cellsig.2020.109591 · Cited by 30
Younger, D. S., & Brown, R. H. (2023) · Handbook of clinical neurology · doi:10.1016/b978-0-323-98817-9.00031-4 · Cited by 35
Newly identified ADAR-mediated A-to-I editing positions as a tool for ALS research
Kwak, S., Nishimoto, Y., & Yamashita, T. (2008) · RNA Biology · doi:10.4161/rna.6925 · Cited by 28
Bäumer, D., Parkinson, N., & Talbot, K. (2009) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2008.166512 · Cited by 28
Pathogenic Genome Signatures That Damage Motor Neurons in Amyotrophic Lateral Sclerosis
Yousefian-Jazi, A., Seol, Y., Kim, J., Ryu, H. L., Lee, J.-H., & Ryu, H. (2020) · Cells · doi:10.3390/cells9122687 · Cited by 29
Han, H., Wei, W., Duan, W., Guo, Y., Li, Y., Wang, J., Bi, Y., & Li, C. (2014) · In Vitro Cellular & Developmental Biology - Animal · doi:10.1007/s11626-014-9832-4 · Cited by 26
Chang, J., & Morton, D. B. (2017) · PLoS ONE · doi:10.1371/journal.pone.0180828 · Cited by 27
Higashi, S., Tsuchiya, Y., Araki, T., Wada, K., & Kabuta, T. (2010) · Neurochemistry International · doi:10.1016/j.neuint.2010.09.010 · Cited by 26
Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis
Luquin, N., Yu, B., Saunderson, R. B., Trent, R. J., & Pamphlett, R. (2009) · Neuromuscular Disorders · doi:10.1016/j.nmd.2009.07.005 · Cited by 26
Zou, Z., Yu, P., Wang, X., Liu, M., Li, X., & Cui, L. (2012) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.03.014 · Cited by 26
Shimamura, M., Kyotani, A., Azuma, Y., Yoshida, H., Nguyen, T. B., Mizuta, I., Yoshida, T., Mizuno, T., Nakagawa, M., Tokuda, T., et al. (2014) · Experimental Cell Research · doi:10.1016/j.yexcr.2014.06.004 · Cited by 25
Gauging the role and impact of drug interactions and repurposing in neurodegenerative disorders
Khatri, D. K., Kadbhane, A., Patel, M., Nene, S., Atmakuri, S., Srivastava, S., & Singh, S. B. (2021) · Current Research in Pharmacology and Drug Discovery · doi:10.1016/j.crphar.2021.100022 · Cited by 25
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Arai, T. (2014) · Neuropathology · doi:10.1111/neup.12138 · Cited by 29
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Kimura, T., Jiang, H., Konno, T., Seto, M., Iwanaga, K., Tsujihata, M., Satoh, A., Onodera, O., Kakita, A., & Takahashi, H. (2014) · Neuropathology · doi:10.1111/neup.12105 · Cited by 24
Self-citationAraki, W., Minegishi, S., Motoki, K., Kume, H., Hohjoh, H., Araki, Y. M., & Tamaoka, A. (2014) · Molecular Neurobiology · doi:10.1007/s12035-014-8644-6 · Cited by 26
Molecular Motor Proteins and Amyotrophic Lateral Sclerosis
Soo, K. Y., Farg, M. A., & Atkin, J. D. (2011) · International Journal of Molecular Sciences · doi:10.3390/ijms12129057 · Cited by 24
Mòdol‐Caballero, G., Herrando‐Grabulosa, M., García-Lareu, B., Solanes, N., Verdés, S., Osta, R., Francos-Quijorna, I., López‐Vales, R., Calvo, A. C., Bosch, A., et al. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.104793 · Cited by 24
Effects of antidepressants on GluR2 Q/R site-RNA editing in modified HeLa cell line
Sawada, J., Yamashita, T., Aizawa, H., Aburakawa, Y., Hasebe, N., & Kwak, S. (2009) · Neuroscience Research · doi:10.1016/j.neures.2009.03.009 · Cited by 23
Paré, B., & Gros‐Louis, F. (2017) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0004 · Cited by 24
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Brouwers, N., Bettens, K., Gijselinck, I., Engelborghs, S., Pickut, B. A., Miegroet, H. V., Montoya, A. G., Mattheijssens, M., Peeters, K., Deyn, P. P. D., et al. (2010) · Journal of Alzheimer s Disease · doi:10.3233/jad-2010-100198 · Cited by 24
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Alrafiah, A. (2018) · In Vivo · doi:10.21873/invivo.11339 · Cited by 28
Genetic architecture of motor neuron diseases
Chaudhary, R., Agarwal, V., Rehman, M., Kaushik, A. S., & Mishra, V. (2021) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2021.120099 · Cited by 24
RNA Dysregulation in Diseases of Motor Neurons
Ibrahim, F., Nakaya, T., & Mourelatos, Z. (2011) · Annual Review of Pathology Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130307 · Cited by 24
Moloney, C. M., Rayaprolu, S., Howard, J. C., Fromholt, S., Brown, H. H., Collins, M., Cabrera, M., Duffy, C., Siemienski, Z. B., Miller, D., et al. (2018) · Acta Neuropathologica Communications · doi:10.1186/s40478-018-0631-0 · Cited by 22
Yanagi, K. S., Wu, Z. J., Amaya, J., Chapkis, N., Duffy, A., Hajdarovic, K. H., Held, A., Mathur, A. D., Russo, K., Ryan, V. H., et al. (2018) · Neuroscience · doi:10.1016/j.neuroscience.2018.10.033 · Cited by 22
TDP-43 and frontotemporal dementia
Hu, W. T., & Grossman, M. (2009) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-009-0052-3 · Cited by 22
Nozaki, I., Arai, M., Takahashi, K., Hamaguchi, T., Yoshikawa, H., Muroishi, T., Noguchi‐Shinohara, M., Ito, H., Itokawa, M., Akiyama, H., et al. (2010) · Internal Medicine · doi:10.2169/internalmedicine.49.3300 · Cited by 22
TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis
Huang, R., Fang, D., Ma, M., Guo, X., Zhao, B., Zeng, Y., Zhou, D., Yang, Y., & Shang, H. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.07.007 · Cited by 21
Matsukawa, K., Hashimoto, T., Matsumoto, T., Ihara, R., Chihara, T., Miura, M., Wakabayashi, T., & Iwatsubo, T. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.729152 · Cited by 22
Kakihana, T., Takahashi, M., Katsuragi, Y., Yamashita, S., Sango, J., Kanki, T., Onodera, O., & Fujii, M. (2021) · iScience · doi:10.1016/j.isci.2021.102733 · Cited by 20
Self-citationGenomic medicine and neurological disease
Boone, P. M., Wiszniewski, W. K., & Lupski, J. R. (2011) · Human Genetics · doi:10.1007/s00439-011-1001-1 · Cited by 19
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Iguchi, Y., Takahashi, Y., Li, J., Araki, K., Amakusa, Y., Kawakami, Y., Kobayashi, K., Yokoi, S., & Katsuno, M. (2023) · The Journal of Cell Biology · doi:10.1083/jcb.202302048 · Cited by 20
Xu, Y.-F., Prudencio, M., Hubbard, J., Tong, J., Whitelaw, E. C., Jansen‐West, K. R., Stetler, C. T., Cao, X., Song, J. I., & Zhang, Y. (2013) · PLoS ONE · doi:10.1371/journal.pone.0069864 · Cited by 20
Ido, A., Fukuyama, H., & Urushitani, M. (2011) · International Journal of Molecular Sciences · doi:10.3390/ijms12106980 · Cited by 20
Kushimura, Y., Tokuda, T., Azuma, Y., Yamamoto, I., Mizuta, I., Mizuno, T., Nakagawa, M., Ueyama, M., Nagai, Y., Yoshida, H., et al. (2018) · Europe PMC (PubMed Central) · Cited by 20
Horiuchi, M., Watanabe, S., Komine, O., Takahashi, E., Kaneko, K., Itohara, S., Shimada, M., Ogi, T., & Yamanaka, K. (2024) · Acta Neuropathologica Communications · doi:10.1186/s40478-024-01893-x · Cited by 22
Yashooa, R. K., Nabi, A. Q., Smail, S. W., Azeez, S. S., Nooh, W. A., Mustafa, S. A., Al-Farha, A. A.-B., Capitanio, N., & Shekha, M. S. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2025.1737468 · Cited by 21
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Cairns, N. J., Perrin, R. J., Schmidt, R. E., Gru, A. A., Green, K. G., Carter, D. J., Taylor-Reinwald, L., Morris, J. C., Gitcho, M. A., & Baloh, R. H. (2010) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2010.01121.x · Cited by 19
Riku, Y. (2020) · Neuropathology · doi:10.1111/neup.12644 · Cited by 19
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Blasco, H., Patin, F., Andres, C. R., Corcia, P., & Gordon, P. (2016) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2016.1202919 · Cited by 19
Nefussy, B., & Drory, V. E. (2010) · The EPMA Journal · doi:10.1007/s13167-010-0027-0 · Cited by 18
Liu, Y., Atkinson, R. A. K., Fernández-Martos, C. M., Kirkcaldie, M., Cui, H., Vickers, J. C., & King, A. E. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.10.001 · Cited by 19
Hu, W., Liu, X., Wang, S., Sun, G., Zhao, R., & Lu, H. (2018) · IUBMB Life · doi:10.1002/iub.1951 · Cited by 19
Azpurua, J., Elkarim, E. A., Tranquille, M., & Dubnau, J. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009882 · Cited by 17
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Li, Z., Liu, X., & Liu, M. (2022) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.2c00262 · Cited by 17
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Mao, Y., Tamura, T., Yuki, Y., Abe, D., Tamada, Y., Imoto, S., Tanaka, H., Homma, H., Tagawa, K., Miyano, S., et al. (2016) · Cell Death and Disease · doi:10.1038/cddis.2016.101 · Cited by 17
Peplow, P., & Martinez, B. (2021) · Neural Regeneration Research · doi:10.4103/1673-5374.322431 · Cited by 16
González‐Sánchez, M., Puertas‐Martín, V., Esteban‐Pérez, J., García‐Redondo, A., Borrego‐Hernández, D., Méndez-Guerrero, A., Velasco, S. L., Martín, A. H.-S., Cordero-Vázquez, P., Herrero-Manso, M. C., et al. (2018) · Neurocase · doi:10.1080/13554794.2019.1581225 · Cited by 16
Mòdol‐Caballero, G., Herrando‐Grabulosa, M., Verdés, S., García-Lareu, B., Hernández, N., Francos-Quijorna, I., López‐Vales, R., Bosch, A., & Navarro, X. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.693309 · Cited by 16
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Fabian, H., Clara, M., & Alvaro, G. (2013) · InTech eBooks · doi:10.5772/56562 · Cited by 17
Tsuboguchi, S., Nakamura, Y., Ishihara, T., Kato, T., Sato, T., Koyama, A., Mori, H., Koike, Y. M., Onodera, O., & Ueno, M. (2023) · Acta Neuropathologica · doi:10.1007/s00401-023-02615-8 · Cited by 14
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Williams, U. E., Philip-Ephraim, E. E., & Oparah, S. K. (2014) · Journal of Neurodegenerative Diseases · doi:10.1155/2014/435164 · Cited by 14
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Takeda, T., Iijima, M., Shimizu, Y., Yoshizawa, H., Miyashiro, M., Onizuka, H., Yamamoto, T., Nishiyama, A., Suzuki, N., Aoki, M., et al. (2019) · Neuropathology · doi:10.1111/neup.12559 · Cited by 14
Pathogenic TDP-43 in amyotrophic lateral sclerosis
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Fondell, E., Fitzgerald, K. C., Falcone, G. J., O’Reilly, É. J., & Ascherio, A. (2013) · American Journal of Epidemiology · doi:10.1093/aje/kwt096 · Cited by 14
Characterization of the upstream and intron promoters of the gene encoding TAR DNA-binding protein
Hasegawa-Ogawa, M., & Okano, H. J. (2021) · Scientific Reports · doi:10.1038/s41598-021-88015-y · Cited by 13
Clinical Overview and Phenomenology of Movement Disorders
Fahn, S., Jankovic, J. J., Hallett, M., & Jenner, P. G. (2007) · Elsevier eBooks · doi:10.1016/b978-0-443-07941-2.50004-8 · Cited by 12
Homma, T., Nagaoka, U., Kawata, A., Mochizuki, Y., Kawakami, H., Maruyama, H., Matsubara, S., & Komori, T. (2013) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12090 · Cited by 12
Onodera, O., Ishihara, T., Shiga, A., Ariizumi, Y., Yokoseki, A., & Nishizawa, M. (2013) · Neuropathology · doi:10.1111/neup.12070 · Cited by 9
Self-citationBiomarkers for brain disorders
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Metadata
- Authors
- Yokoseki, A., Shiga, A., Tan, C., Tagawa, A., Kaneko, H., Koyama, A., Eguchi, H., Tsujino, A., Ikeuchi, T., Kakita, A., Okamoto, K., Nishizawa, M., Takahashi, H., & Onodera, O.
- Affiliations
- Brain Research Institute, Niigata University (JP)
- Nagasaki University (JP)
- Gunma University (JP)
- Corresponding author
- Takahashi, Hitoshi
- Onodera, Osamu
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2008-04
- Volume
- 63
- Issue
- 4
- Pages
- 538-542
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1984308849
- Cited by
- 373
- References
- 14
- Citations by year
- 2026: 4 · 2025: 4 · 2024: 5 · 2023: 7 · 2022: 7 · 2021: 14 · 2020: 12 · 2019: 6 · 2018: 17 · 2017: 13 · 2016: 15 · 2015: 23 · 2014: 23 · 2013: 31 · 2012: 33
- FWCI
- 33.49
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, TDP-43, TDP-43 mutations, familial ALS, lower motor neurons, frontotemporal lobar degeneration, molecular pathogenesis, neurodegeneration
- MeSH terms
- Adenine, Aged, Amino Acid Sequence, Amyotrophic Lateral Sclerosis, Animals, Cells, Cultured, Chlorocebus aethiops, DNA-Binding Proteins, Female, Guanine, Humans, Male, Middle Aged, Molecular Sequence Data, Pedigree, COS Cells, Base Pairing, Mutation, Missense
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