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681por Palamiuc, Lavinia, Schlagowski, Anna, Ngo, Shyuan T, Vernay, Aurelia, Dirrig-Grosch, Sylvie, Henriques, Alexandre, Boutillier, Anne-Laurence, Zoll, Joffrey, Echaniz-Laguna, Andoni, Loeffler, Jean-Philippe, René, Frédérique“…Amyotrophic lateral sclerosis (ALS) is the most common fatal motor neuron disease in adults. Numerous studies indicate that ALS is a systemic disease that affects whole body physiology and metabolic homeostasis. …”
Publicado 2015
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682New links between SOD1 and metabolic dysfunction from a yeast model of amyotrophic lateral sclerosispor Bastow, Emma L., Peswani, Amber R., Tarrant, Daniel S. J., Pentland, Daniel R., Chen, Xi, Morgan, Alan, Staniforth, Gemma L., Tullet, Jennifer M., Rowe, Michelle L., Howard, Mark J., Tuite, Mick F., Gourlay, Campbell W.“…A number of genes have been linked to familial forms of the fatal motor neuron disease amyotrophic lateral sclerosis (ALS). …”
Publicado 2016
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683“…BACKGROUND/AIMS: With the notable exceptions of dementia, stroke, and motor neuron disease, relatively little is known about the safety and utility of percutaneous endoscopic gastrostomy (PEG) tube insertion in patients with neurodegenerative disease. …”
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684por Zhang, Yajie, Long, Hongyan, Zhou, Fuqiong, Zhu, Weina, Ruan, Jie, Zhao, Yang, Lu, Yan“…Seipin has been shown to be a key molecule related to motor neuron disease and was tightly associated with ERS in a series of in vivo studies. …”
Publicado 2017
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685“…Neurological diseases, including dementias such as Alzheimer's disease (AD) and fronto-temporal dementia (FTD) and degenerative motor neuron diseases such as amyotrophic lateral sclerosis (ALS), are responsible for an increasing fraction of worldwide fatalities. …”
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686por Lin, Daniel H., Correia, Ana R., Cai, Sarah W., Huber, Ferdinand M., Jette, Claudia A., Hoelz, André“…Mutations linked to motor neuron diseases cause decreased Gle1 thermostability, implicating nucleoporin misfolding as a disease determinant. …”
Publicado 2018
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687“…Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, leading to progressive paralysis, dysarthria, dysphagia, and respiratory disabilities. …”
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688por Foxe, David, Elan, Elle, Burrell, James R., Leslie, Felicity V. C., Devenney, Emma, Kwok, John B., Halliday, Glenda M., Hodges, John R., Piguet, Olivier“…The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disease progression vary considerably in affected patients. …”
Publicado 2018
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689“…Interestingly, in motor neuron diseases, such as spinal muscular atrophy (SMA), pathological studies in patients have identified alterations in multiple parts of the sensory-motor system. …”
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690por Rehorst, Wiebke A., Thelen, Maximilian P., Nolte, Hendrik, Türk, Clara, Cirak, Sebahattin, Peterson, Jonathan M., Wong, G. William, Wirth, Brunhilde, Krüger, Marcus, Winter, Dominic, Kye, Min Jeong“…While SMA is primarily considered as a motor neuron disease, recent data suggests that survival motor neuron (SMN) deficiency in muscle causes intrinsic defects. …”
Publicado 2019
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691por Kim, Hyebeen, Lee, Seul-Yi, Jeong, Hyeon-Ju, Kang, Jong-Sun, Cho, Hana, Leem, Young-Eun“…BACKGROUND AND OBJECTIVES: The directed differentiation of pluripotent stem cells into motor neurons is critical for the development of disease modelling and therapeutics to intervene degenerative motor neuron diseases. Cell surface receptor Cdo functions as a coreceptor for Sonic hedgehog (Shh) with Boc and Gas1 in the patterning of ventral spinal cord neurons including motor neurons. …”
Publicado 2020
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692por Rietz, Anne, Hodgetts, Kevin J, Lusic, Hrvoje, Quist, Kevin M, Osman, Erkan Y, Lorson, Christian L, Androphy, Elliot J“…Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. …”
Publicado 2020
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693“…Polymorphisms and intermediate alleles in ATXN2 establish this gene as a powerful modulator of neurological diseases including lethal neurodegenerative conditions such as motor neuron disease, spinocerebellar ataxia 3 (SCA3), and peripheral nerve disease such as familial amyloidosis polyneuropathy. …”
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694por Conroy, Éilís, Kennedy, Polly, Heverin, Mark, Leroi, Iracema, Mayberry, Emily, Beelen, Anita, Stavroulakis, Theocharis, van den Berg, Leonard H., McDermott, Christopher J., Hardiman, Orla, Galvin, Miriam“…Amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND) is a systemic and fatal neurodegenerative condition for which there is currently no cure. …”
Publicado 2021
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695por Pugliese, Raffaele, Sala, Riccardo, Regondi, Stefano, Beltrami, Benedetta, Lunetta, Christian“…Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized by the degeneration of both upper and lower motor neurons, which leads to muscle weakness and subsequently paralysis. …”
Publicado 2022
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696por Egawa, Naohiro, Izumi, Yuishin, Suzuki, Hidefumi, Tsuge, Itaru, Fujita, Koji, Shimano, Hitoshi, Izumikawa, Keiichi, Takahashi, Nobuhiro, Tsukita, Kayoko, Enami, Takako, Nakamura, Masahiro, Watanabe, Akira, Naitoh, Motoko, Suzuki, Shigehiko, Seki, Tsuneyoshi, Kobayashi, Kazuhiro, Toda, Tatsushi, Kaji, Ryuji, Takahashi, Ryosuke, Inoue, Haruhisa“…Dyslipidemia is considered an essential component of the pathological process of amyotrophic lateral sclerosis (ALS), a fatal motor neuron disease. Although TAR DNA Binding Protein 43 kDa (TDP-43) links both familial and sporadic forms of ALS and cytoplasmic aggregates are a hallmark of most cases of ALS, the molecular mechanism and the in vivo relation of ALS dyslipidemia with TDP-43 have been unclear. …”
Publicado 2022
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697por Roohi Mohi-ud-din, Mir, Reyaz Hassan, Shah, Abdul Jalil, Sabreen, Saba, Wani, Taha Umair, Masoodi, Mubashir Hussain, Akkol, Esra Küpeli, Bhat, Zulfiqar Ali, Khan, Haroon“…BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease (MND) that typically causes death within 3-5 years after diagnosis. …”
Publicado 2022
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698“…Dysphagia, which refers to difficult and/or disordered swallowing, is a common problem associated with various neurological diseases such as stroke, motor neuron diseases and neurodegenerative diseases. Traditionally, dysphagia treatments are either compensatory, which includes modifications of bolus texture or feeding posture, or rehabilitative, which includes behavioral exercises and sensory stimulation. …”
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699por Fabbrizio, Paola, Margotta, Cassandra, D’Agostino, Jessica, Suanno, Giuseppe, Quetti, Lorenzo, Bendotti, Caterina, Nardo, Giovanni“…Amyotrophic Lateral Sclerosis (ALS) is the most common adult motor neuron disease, with a poor prognosis, a highly unmet therapeutic need, and a burden on health care costs. …”
Publicado 2023
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700“…Amyotrophic lateral sclerosis (ALS) is an incurable motor neuron disease caused by upper and lower motor neuron death. …”
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