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1621por Qian, Kun, Huang, Hailong, Peterson, Andrew, Hu, Baoyang, Maragakis, Nicholas J., Ming, Guo-li, Chen, Hong, Zhang, Su-Chun“…It is not known if astrocytes from sporadic ALS (sALS) patients cause MN degeneration in vivo and whether the effect is specific to MNs. …”
Publicado 2017
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1622por Chen, YongPing, Wei, QianQian, Chen, XuePing, Li, ChunYu, Cao, Bei, Ou, RuWei, Hadano, Shinji, Shang, Hui-Fang“…Conclusion: This study provided evidence of abnormal miRNA expression patterns in the peripheral blood leukocytes of SALS patients. Leukocytes miRNAs provide a promising opportunity for detection of SALS. …”
Publicado 2016
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1623“…Single-nucleotide polymorphisms (SNPs) in the Nogo-A receptor gene (RTN4R) have been associated with increased risk for sporadic amyotrophic lateral sclerosis (SALS) in the French population. In the present study, we investigated the associations between RTN4R tag SNPs and SALS in a large Chinese population. …”
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1624por Feng, Feng, Wang, Hongfen, Liu, Jiajin, Wang, Zhanjun, Xu, Baixuan, Zhao, Kun, Tao, Xiaoyong, He, Zhengqing, Yang, Fei, Huang, Xusheng“…OBJECTIVES: To investigate the genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis (SALS) patients with TARDBP mutations, we carried out a genetic analysis in a cohort of 391 SALS patients and explored the clinical manifestations of patients with TARDBP variants. …”
Publicado 2021
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1625por Rafałowska, Janina, Sulejczak, Dorota, Chrapusta, Stanisław J., Gadamski, Roman, Dziewulska, Dorota“…The immunolabeling was most intense in sALS patients with relatively fast disease course, and decreased with increasing disease duration in both the human sALS and rat fALS material. …”
Publicado 2014
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1626por Andrés-Benito, Pol, Moreno, Jesús, Domínguez, Raúl, Aso, Ester, Povedano, Mónica, Ferrer, Isidro“…OBJECTIVE: Characterization of altered expression of selected transcripts linked to inflammation in the peripheral blood of sporadic amyotrophic lateral sclerosis (sALS) patients at early stage of disease to increase knowledge about peripheral inflammatory response in sALS. …”
Publicado 2017
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1627por Krach, Florian, Batra, Ranjan, Wheeler, Emily C., Vu, Anthony Q., Wang, Ruth, Hutt, Kasey, Rabin, Stuart J., Baughn, Michael W., Libby, Ryan T., Diaz-Garcia, Sandra, Stauffer, Jennifer, Pirie, Elaine, Saberi, Shahram, Rodriguez, Maria, Madrigal, Assael A., Kohl, Zacharias, Winner, Beate, Yeo, Gene W., Ravits, John“…Sporadic amyotrophic lateral sclerosis (sALS) is the most common form of ALS, however, the molecular mechanisms underlying cellular damage and motor neuron degeneration remain elusive. …”
Publicado 2018
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1628“…In order to investigate the genetic risk factors common to both sPD and sALS, we carried out a screen of risk alleles for sALS and related loci in 530 sPD patients and 530 controls from the Han population of Mainland China (HPMC). …”
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1629por Theunissen, Frances, Anderton, Ryan S., Mastaglia, Frank L., James, Ian, Bedlack, Richard, Akkari, P. Anthony“…Neurofilament heavy (NEFH) is one of the critical proteins required for the formation of the neuronal cytoskeleton and polymorphisms in NEFH are reported as a rare cause of sporadic ALS (sALS). In the current study, a candidate tetranucleotide (TTTA) repeat variant in NEFH was selected using an in-silico short structural variant (SSV) evaluation algorithm and investigated in two cohorts of North American sALS patients, both separately and combined (Duke cohort n = 138, Coriell cohort n = 333; combined cohort n = 471), compared to a group of healthy controls from the Coriell Institute biobank (n = 496). …”
Publicado 2022
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1630por He, Xianghua, Zhang, Lifang, Yao, Xiaoli, Hu, Jing, Yu, Lihua, Jia, Hua, An, Ran, Liu, Zhuolin, Xu, Yanming“…We therefore investigated whether this polymorphism predisposes to both PD and sporadic ALS (sALS). Samples from 351 subjects with PD and 351 healthy controls from two major cities in China were compared, while samples from 226 subjects with sALS were compared to the same number of controls from three centers in China. …”
Publicado 2013
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1631por Wei, QianQian, Zhou, QingQing, Chen, YongPing, Ou, RuWei, Cao, Bei, Xu, YaQian, Yang, Jing, Shang, Hui-Fang“…A literature review indicated that the mutation rates of major ALS causative genes were 53.55% in FALS and 6.29% in SALS. In Chinese SALS and FALS, the highest mutation frequency was in the SOD1 gene. …”
Publicado 2017
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1632por Cadoni, Maria Piera L, Biggio, Maria Luigia, Arru, Giannina, Secchi, Giannina, Orrù, Nicola, Clemente, Maria Grazia, Sechi, GianPietro, Yamoah, Alfred, Tripathi, Priyanka, Orrù, Sandro, Manetti, Roberto, Galleri, Grazia“…This specific pattern led us to suppose that VAPB could be misfolded in sALS. The data indirectly confirmed by flow cytometry assay (FCA) showed a reduction of VAPB fluorescent signals in sALS. …”
Publicado 2020
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1633por Kurita, Hisaka, Yabe, Saori, Ueda, Tomoyuki, Inden, Masatoshi, Kakita, Akiyoshi, Hozumi, Isao“…The purpose of this study was to investigate miRNA levels in sALS and the target genes of miRNA. Microarray and real-time RT-PCR analyses revealed significantly-decreased levels of miR-139-5p and significantly increased levels of miR-5572 in the spinal cords of sALS patients compared with those in controls. …”
Publicado 2020
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1634por Zhang, Xiaolei, Dong, Sheng, Wang, Guoqin, Zhang, Huifang, Wang, James Jin, Wang, Guihuai“…OBJECTIVE: Angiolipomas are usually found in the subcutaneous tissue of the trunk and limbs. Spinal angiolipomas (SALs) are uncommon and have rarely been reported. …”
Publicado 2022
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1635por Mitropoulos, Konstantinos, Merkouri Papadima, Eleni, Xiromerisiou, Georgia, Balasopoulou, Angeliki, Charalampidou, Kyriaki, Galani, Vasiliki, Zafeiri, Krystallia-Vassiliki, Dardiotis, Efthymios, Ralli, Styliani, Deretzi, Georgia, John, Anne, Kydonopoulou, Kyriaki, Papadopoulou, Elpida, di Pardo, Alba, Akcimen, Fulya, Loizedda, Annalisa, Dobričić, Valerija, Novaković, Ivana, Kostić, Vladimir S., Mizzi, Clint, Peters, Brock A., Basak, Nazli, Orrù, Sandro, Kiskinis, Evangelos, Cooper, David N., Gerou, Spyridon, Drmanac, Radoje, Bartsakoulia, Marina, Tsermpini, Evangelia-Eirini, Hadjigeorgiou, Georgios M., Ali, Bassam R., Katsila, Theodora, Patrinos, George P.“…Herein, we adopted a next-generation sequencing approach to Greek patients suffering from sporadic ALS (together with their healthy counterparts) in order to explore further the genetic basis of sporadic ALS (sALS). RESULTS: Whole-genome sequencing analysis of Greek sALS patients revealed a positive association between FTO and TBC1D1 gene variants and sALS. …”
Publicado 2017
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1636por Lin, Feng, Lin, Wanhui, Zhu, Chaofeng, Lin, Jilan, Zhu, Junge, Li, Xu-Ying, Wang, Zhanjun, Wang, Chaodong, Huang, Huapin“…CONCLUSIONS: Our results confirmed that NEFH Ser787Arg is a novel sALS risk variant in Chinese subjects, but NEFM and NEFL were not associated with sALS. …”
Publicado 2021
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1637por Kim, Harper S., Son, John, Lee, Donghwan, Tsai, Joy, Wang, Danny, Chocron, E. Sandra, Jeong, Seongwoo, Kittrell, Pamela, Murchison, Charles F., Kennedy, Richard E., Tobon, Alejandro, Jackson, Carlayne E., Pickering, Andrew M.“…Importantly, both sALS and bALS patients displayed comparable oral-motor deficits with associations between oral-dysbiosis and severity of oral-motor deficits in bALS but not sALS. …”
Publicado 2022
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1638por Bosco, Daryl A., Morfini, Gerardo, Karabacak, N. Murat, Song, Yuyu, Gros-Louis, Francois, Pasinelli, Piera, Goolsby, Holly, Fontaine, Benjamin A., Lemay, Nathan, McKenna-Yasek, Diane, Frosch, Matthew P., Agar, Jeffery N., Julien, Jean-Pierre, Brady, Scott T., Brown, Robert H.“…Studies here suggest that WT-SOD1 can be pathogenic in SALS and identifies an SOD1-dependent pathogenic mechanism common to FALS and SALS.…”
Publicado 2010
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1639por Haidet-Phillips, Amanda M., Hester, Mark E., Miranda, Carlos J., Meyer, Kathrin, Braun, Lyndsey, Frakes, Ashley, Song, SungWon, Likhite, Shibi, Murtha, Matthew J., Foust, Kevin D., Rao, Meghan, Eagle, Amy, Kammesheidt, Anja, Christensen, Ashley, Mendell, Jerry R., Burghes, Arthur H.M., Kaspar, Brian K.“…Our data highlight astrocytes as a non-cell autonomous component in sALS and provide the first in vitro model system to investigate common disease mechanisms and evaluate potential therapies for sALS and fALS.…”
Publicado 2011
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1640por Baciu, Cristina, Thompson, Kevin J, Mougeot, Jean-Luc, Brooks, Benjamin R, Weller, Jennifer W“…BACKGROUND: Sporadic Amyotrophic Lateral Sclerosis (sALS) is a devastating, complex disease of unknown etiology. …”
Publicado 2012
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