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741por Wang, Simon J. H., Sinclair, Donald A. R., Kim, Hae-Yoon, Kinsey, Stephen D., Yoo, Byoungjoo, Shih, Claire R. Y., Wong, Kenneth K. L., Krieger, Charles, Harden, Nicholas, Verheyen, Esther M.“…Hipk also modifies the levels of an important nuclear protein, TBPH, the fly orthologue of TAR DNA-binding protein 43 (TDP-43), which may have relevance for understanding motor neuron diseases.…”
Publicado 2020
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742por Zeissler, Marie-Louise, Li, Vivien, Parmar, Mahesh K.B., Carroll, Camille Buchholz“…MAMS trial platforms already exist for prostate, renal and oropharyngeal cancer and are currently being developed for progressive multiple sclerosis (PMS) and motor neuron disease (MND) within the UK. As a MAMS trial will evaluate many potential treatments it is of critical importance that a widely endorsed core protocol is developed which will investigate outcomes and objectives meaningful to patients. …”
Publicado 2020
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743por Finegan, Eoin, Siah, We Fong, Shing, Stacey Li Hi, Chipika, Rangariroyashe H., Chang, Kai Ming, McKenna, Mary Clare, Doherty, Mark A., Hengeveld, Jennifer C., Vajda, Alice, Donaghy, Colette, Hutchinson, Siobhan, McLaughlin, Russel L., Hardiman, Orla, Bede, Peter“…Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease manifesting in progressive spasticity and gradually resulting in considerably motor disability. …”
Publicado 2020
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744por Nakamura, Ryoichi, Misawa, Kazuharu, Tohnai, Genki, Nakatochi, Masahiro, Furuhashi, Sho, Atsuta, Naoki, Hayashi, Naoki, Yokoi, Daichi, Watanabe, Hazuki, Watanabe, Hirohisa, Katsuno, Masahisa, Izumi, Yuishin, Kanai, Kazuaki, Hattori, Nobutaka, Morita, Mitsuya, Taniguchi, Akira, Kano, Osamu, Oda, Masaya, Shibuya, Kazumoto, Kuwabara, Satoshi, Suzuki, Naoki, Aoki, Masashi, Ohta, Yasuyuki, Yamashita, Toru, Abe, Koji, Hashimoto, Rina, Aiba, Ikuko, Okamoto, Koichi, Mizoguchi, Kouichi, Hasegawa, Kazuko, Okada, Yohei, Ishihara, Tomohiko, Onodera, Osamu, Nakashima, Kenji, Kaji, Ryuji, Kamatani, Yoichiro, Ikegawa, Shiro, Momozawa, Yukihide, Kubo, Michiaki, Ishida, Noriko, Minegishi, Naoko, Nagasaki, Masao, Sobue, Gen“…Amyotrophic lateral sclerosis (ALS) is a devastating progressive motor neuron disease that affects people of all ethnicities. …”
Publicado 2020
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745por Kim, Joohyung, Kim, Sungdae, Nahm, Minyeop, Li, Tsai-Ning, Lin, Hsin-Chieh, Kim, Yeongjin David, Lee, Jihye, Yao, Chi-Kuang, Lee, Seungbok“…Mutations in the human ALS2 gene cause recessive juvenile-onset amyotrophic lateral sclerosis and related motor neuron diseases. Although the ALS2 protein has been identified as a guanine-nucleotide exchange factor for the small GTPase Rab5, its physiological roles remain largely unknown. …”
Publicado 2021
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746por Opris¸oreanu, Ana-Maria, Smith, Hannah L., Krix, Sophia, Chaytow, Helena, Carragher, Neil O., Gillingwater, Thomas H., Becker, Catherina G., Becker, Thomas“…Synapses are particularly vulnerable in many neurodegenerative diseases and often the first to degenerate, for example in the motor neuron disease spinal muscular atrophy (SMA). Compounds that can counteract synaptic destabilisation are rare. …”
Publicado 2021
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747por Stein, Jan, Walkenfort, Bernd, Cihankaya, Hilal, Hasenberg, Mike, Bader, Verian, Winklhofer, Konstanze F., Röderer, Pascal, Matschke, Johann, Theiss, Carsten, Matschke, Veronika“…Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in humans and remains to have a fatal prognosis. …”
Publicado 2021
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748por Smukowski, Samuel N., Maioli, Heather, Latimer, Caitlin S., Bird, Thomas D., Jayadev, Suman, Valdmanis, Paul N.“…Amyotrophic lateral sclerosis (ALS) is the most prominent motor neuron disease in humans. Its etiology consists of progressive motor neuron degeneration resulting in a rapid decline in motor function starting in the limbs or bulbar muscles and eventually fatally impairing central organs most typically resulting in loss of respiration. …”
Publicado 2022
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749por Sun, Junjie, Qiu, Jiaying, Yang, Qiongxia, Ju, Qianqian, Qu, Ruobing, Wang, Xu, Wu, Liucheng, Xing, Lingyan“…Although spinal muscular atrophy (SMA) is a motor neuron disease caused by the loss of survival of motor neuron (SMN) proteins, there is growing evidence that non-neuronal cells play important roles in SMA pathogenesis. …”
Publicado 2022
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750por Spencer, Peter S., Palmer, Valerie S., Kisby, Glen E., Lagrange, Emmeline, Horowitz, B. Zane, Valdes Angues, Raquel, Reis, Jacques, Vernoux, Jean-Paul, Raoul, Cédric, Camu, William“…In both instances, there is a strong association with exposure to DNA-damaging (genotoxic) chemicals years or decades prior to clinical onset of motor neuron disease. In light of this recent understanding, we discuss published geographic clusters of ALS, conjugal cases, single-affected twins, and young-onset cases in relation to their demographic, geographic and environmental associations but also whether, in theory, there was the possibility of exposure to genotoxic chemicals of natural or synthetic origin. …”
Publicado 2023
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751por Stafford, Owen, Gleeson, Christina, Egan, Ciara, Tunney, Conall, Rooney, Brendan, O’Keeffe, Fiadhnait, McDermott, Garret, Baron-Cohen, Simon, Burke, Tom“…Overall, this review includes 22 papers with data from N = 800 participants with neurodegenerative conditions: Alzheimer’s disease, n = 31; Parkinson’s disease, n = 221; Lewy body dementia, n = 33; motor neuron disease, n = 218; Huntington’s disease n = 80; multiple sclerosis, n = 217; and N = 601 matched typical controls. …”
Publicado 2023
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752“…High-SDI regions showed the highest EAPC for age-standardised incidence rates of Parkinson disease, depression, and motor neuron disease, and age-standardised DALY rates of neurological disorders. …”
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753por Ratnaparkhi, Anuradha, Lawless, George M., Schweizer, Felix E., Golshani, Peyman, Jackson, George R.“…This new fly model of ALS, with its robust pathological phenotypes, should for the first time allow the power of unbiased screens in Drosophila to be applied to study of motor neuron diseases.…”
Publicado 2008
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754por Ranganathan, Srikanth, Harmison, George G., Meyertholen, Kristin, Pennuto, Maria, Burnett, Barrington G., Fischbeck, Kenneth H.“…Spinal and bulbar muscular atrophy (SBMA) is a motor neuron disease caused by polyglutamine expansion mutation in the androgen receptor (AR). …”
Publicado 2009
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755“…These findings provide new information for understanding the complexity of glycinergic functions in the human brain, which will translate into the contribution of inhibitory mechanisms in paroxysmal disorders and neurodegenerative diseases such as Epilepsy, Huntington's and Parkinson's Disease and Motor Neuron Disease.…”
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756por Hirth, Frank“…These studies offer reliable models for Alzheimer’s, Parkinson’s, and motor neuron diseases, as well as models for trinucleotide repeat expansion diseases, including ataxias and Huntington’s disease. …”
Publicado 2010
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757por Dibaj, Payam, Steffens, Heinz, Zschüntzsch, Jana, Nadrigny, Fabien, Schomburg, Eike D., Kirchhoff, Frank, Neusch, Clemens“…Mutations in the enzyme superoxide dismutase-1 (SOD1) cause hereditary variants of the fatal motor neuronal disease Amyotrophic lateral sclerosis (ALS). …”
Publicado 2011
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758“…In some individuals, CTE is also associated with motor neuron disease similar to amyotrophic lateral sclerosis. …”
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759“…The abnormal brain MR images consist of the following diseases: glioma, metastatic adenocarcinoma, metastatic bronchogenic carcinoma, meningioma, sarcoma, Alzheimer, Huntington, motor neuron disease, cerebral calcinosis, Pick's disease, Alzheimer plus visual agnosia, multiple sclerosis, AIDS dementia, Lyme encephalopathy, herpes encephalitis, Creutzfeld-Jakob disease, and cerebral toxoplasmosis. …”
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760por Yamashita, Takenari, Chai, Hui Lin, Teramoto, Sayaka, Tsuji, Shoji, Shimazaki, Kuniko, Muramatsu, Shin-ichi, Kwak, Shin“…Amyotrophic lateral sclerosis (ALS) is the most common adult-onset motor neuron disease, and the lack of effective therapy results in inevitable death within a few years of onset. …”
Publicado 2013
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