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1681por Kuźma-Kozakiewicz, Magdalena, Chudy, Agnieszka, Kaźmierczak, Beata, Dziewulska, Dorota, Usarek, Ewa, Barańczyk-Kuźma, Anna“…However, the mean levels of DCTN1-mRNA and protein were lower in both SALS cortexes and in the spinal cord than in control structures. …”
Publicado 2013
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1682por Liu, Zhi-Jun, Lin, Hui-Xia, Wei, Qiao, Zhang, Qi-Jie, Chen, Cong-Xin, Tao, Qing-Qing, Liu, Gong-Lu, Ni, Wang, Gitler, Aaron D, Li, Hong-Fu, Wu, Zhi-Ying“…In southeastern Chinese FALS, the mutation frequency of SOD1, FUS, and TARDBP was 52.9%, 8.8%, 8.8% respectively. In early-onset SALS, FUS mutations were the most common (22.6%). …”
Publicado 2019
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1683“…Transcriptome arrays identifies 747 genes differentially expressed in the anterior horn of the spinal cord and 2,300 genes differentially expressed in frontal cortex area 8 in a single group of typical sALS cases without frontotemporal dementia compared with age-matched controls. …”
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1684The Analysis of Two BDNF Polymorphisms G196A/C270T in Chinese Sporadic Amyotrophic Lateral Sclerosis“…We demonstrate that the frequency of the CT genotype and of the C270T T allele was significantly higher in the ALS group than in controls, although G196A was not associated with sALS. These data provide the first demonstration that the BDNF C270T polymorphism may be a candidate susceptibility locus for sALS, at least in Han Chinese.…”
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1685por Aladesuyi Arogundade, Olubankole, Nguyen, Sandra, Leung, Ringo, Wainio, Danielle, Rodriguez, Maria, Ravits, John“…Here we report our further studies of 11 SALS, 11 C9-ALS and 11 control spinal cords. We find that nucleolar stress manifests specifically as shrinkage in nucleoli of C9-ALS spinal motor neurons. …”
Publicado 2021
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1686por Liguori, Maria, Nuzziello, Nicoletta, Introna, Alessandro, Consiglio, Arianna, Licciulli, Flavio, D’Errico, Eustachio, Scarafino, Antonio, Distaso, Eugenio, Simone, Isabella L.“…Study included 56 sALS and 20 healthy controls (HCs). We analyzed the peripheral blood samples of sALS patients and HCs with a high-throughput next-generation sequencing followed by an integrated bioinformatics/biostatistics analysis. …”
Publicado 2018
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1687por Chen, YongPing, Wei, Qian-Qian, Ou, RuWei, Cao, Bei, Chen, XuePing, Zhao, Bi, Guo, XiaoYan, Yang, Yuan, Chen, Ke, Wu, Ying, Song, Wei, Shang, Hui-Fang“…No significant differences in the genotype distributions and MAF of the SNPs were found between SALS and HCs, MSA and HCs, and subgroups of PD and SALS. …”
Publicado 2015
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1688por Portaro, Simona, Brizzi, Teresa, Naro, Antonino, Conti Nibali, Valeria, Morabito, Rosa, Bramanti, Alessia, Calabrò, Rocco Salvatore“…It can be either familial (fALS) or sporadic (sALS). ALS is characterized by muscle weakness and atrophy that can involve the limbs and trunk (i.e. the spinal form of the disease) or speech and swallowing (i.e. the bulbar form). …”
Publicado 2018
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1689por Terayama, Mari, Takahashi, Gaku, Nonoguchi, Maria, Kan, Shigenori, Hoshikawa, Koichi, Inada, Katsuya, Mase, Tomohiko“…A newly developed semi-automatic synthetic luminescence substrate (SALS) method for measuring endotoxin was compared with the existing turbidimetric kinetic assay (TKA) using leukocyte-rich plasma to verify its usefulness. …”
Publicado 2023
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1690por Gregory, Jenna M, Livesey, Matthew R, McDade, Karina, Selvaraj, Bhuvaneish T, Barton, Samantha K, Chandran, Siddharthan, Smith, Colin“…We also showed that sALS cases exhibited widespread AMPAR dysregulation in the motor and pre‐frontal cortex, though the exact identity of the AMPAR subunit being dysregulated was dependent on brain region. …”
Publicado 2019
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1691por Van Daele, Sien Hilde, Moisse, Matthieu, van Vugt, Joke J F A, Zwamborn, Ramona A J, van der Spek, Rick, van Rheenen, Wouter, Van Eijk, Kristel, Kenna, Kevin, Corcia, Philippe, Vourc'h, Patrick, Couratier, Philippe, Hardiman, Orla, McLaughin, Russell, Gotkine, Marc, Drory, Vivian, Ticozzi, Nicola, Silani, Vincenzo, Ratti, Antonia, de Carvalho, Mamede, Mora Pardina, Jesús S, Povedano, Monica, Andersen, Peter M, Weber, Markus, Başak, Nazli A, Shaw, Chris, Shaw, Pamela J, Morrison, Karen E, Landers, John E, Glass, Jonathan D, van Es, Michael A, van den Berg, Leonard H, Al-Chalabi, Ammar, Veldink, Jan, Van Damme, Philip“…Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large studies exploring genetic variation in all ALS-associated genes in sporadic ALS (sALS) are still scarce. Gene testing in a diagnostic setting is challenging, given the complex genetic architecture of sALS, for which there are genetic variants with large and small effect sizes. …”
Publicado 2023
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1692por Kenna, Kevin P, McLaughlin, Russell L, Byrne, Susan, Elamin, Marwa, Heverin, Mark, Kenny, Elaine M, Cormican, Paul, Morris, Derek W, Donaghy, Colette G, Bradley, Daniel G, Hardiman, Orla“…[G287S]) (n=2/2 sALS). Comparison of our results with those from studies of other European populations revealed significant differences in the spectrum of disease variation (p=1.7×10(−4)). …”
Publicado 2013
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1693por Cheng, Yang-Fan, Gu, Xiao-Jing, Yang, Tian-Mi, Wei, Qian-Qian, Cao, Bei, Zhang, Yang, Shang, Hui-Fang, Chen, Yong-Ping“…In addition, hsa-miR-199a-3p and hsa-miR-30b-5p were upregulated significantly in patients with SALS, while hsa-miR-501-3p, hsa-miR-103a-2-5p, and hsa-miR-181d-5p had a trend to be upregulated. …”
Publicado 2023
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1694por Cabras, Francesco, Fabrizio, Lazzara, Bracale, Umberto, Andreuccetti, Jacopo, Pignata, Giusto“…We carried out single access laparoscopic splenectomy (SALS) for an 8 cm cystic lesion of the spleen, involving the hilum, on a 38-year-old woman. …”
Publicado 2014
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1695“…Around 10% of all cases present as familial ALS (FALS), while sporadic ALS (SALS) accounts for the remaining 90%. Diverse genetic mutations leading to FALS have been identified, but the underlying causes of SALS remain largely unknown. …”
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1696por Wuolikainen, Anna, Moritz, Thomas, Marklund, Stefan L., Antti, Henrik, Andersen, Peter Munch“…We find that patients with sporadic amyotrophic lateral sclerosis (SALS) have a heterogeneous metabolite signature in the cerebrospinal fluid, in some patients being almost identical to controls. …”
Publicado 2011
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1697por Galbiati, Mariarita, Onesto, Elisa, Zito, Arianna, Crippa, Valeria, Rusmini, Paola, Mariotti, Raffaella, Bentivoglio, Marina, Bendotti, Caterina, Poletti, Angelo“…ALS is a motor neuron disease mainly occurring in sporadic (sALS) forms, but some familial forms (fALS) exist and have been linked to mutations in different genes. …”
Publicado 2012
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1698por Yoo, Yung Jae, Kim, Gi Woon, Lee, Choung Ah, Park, Yong Jin, Lee, Kyoung Mi, Cho, Jin Seong, Jeong, Won Jung, Choi, Hyuk Joong, Choi, Han Joo, Heo, Nam Hun, Moon, Hyung Jun“…RESULTS: Of 38,995 cardiac arrest patients enrolled in the SALS registry, 11,889 were included in the final analysis. …”
Publicado 2020
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1699por Genç, Barış, Jara, Javier H., Lagrimas, Amiko K. B., Pytel, Peter, Roos, Raymond P., Mesulam, M. Marsel, Geula, Changiz, Bigio, Eileen H., Özdinler, P. Hande“…We investigated the primary motor cortices isolated from post-mortem normal control subjects, patients with familial ALS (fALS), sporadic ALS (sALS), ALS with frontotemporal dementia (FTD-ALS), and Alzheimer’s disease (AD), and found profound apical dendrite degeneration of Betz cells in both fALS and sALS, as well as FTD-ALS patients. …”
Publicado 2017
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1700por Floeter, Mary Kay, Bageac, Devin, Danielian, Laura E., Braun, Laura E., Traynor, Bryan J., Kwan, Justin Y.“…Compared to healthy controls and sALS patients, symptomatic C9 + subjects had greater ventricular volume loss and thalamic atrophy for age, with diffuse, patchy cortical thinning. …”
Publicado 2016
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