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1101por Boyer, Justin G, Murray, Lyndsay M, Scott, Kyle, De Repentigny, Yves, Renaud, Jean-Marc, Kothary, Rashmi“…Although SMA has traditionally been considered a motor neuron disease, the muscle-specific requirement for SMN has never been fully defined. …”
Publicado 2013
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1102por Heck, Melanie Vanessa, Azizov, Mekhman, Stehning, Tanja, Walter, Michael, Kedersha, Nancy, Auburger, Georg“…Because other stress granule components such as TDP-43, FUS, ATXN2, SMN, MAPT, HNRNPA2B1, and HNRNPA1 are crucial for the motor neuron diseases amyotrophic lateral sclerosis (ALS)/spinal muscular atrophy (SMA) and for the frontotemporal dementia (FTD), here we studied mouse nervous tissue to identify mRNAs with selective dependence on Tia1 deletion. …”
Publicado 2014
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1103por Williams, James R, Fitzhenry, David, Grant, Lauren, Martyn, Derek, Kerr, Douglas A“…A cohort of Medicare patients without claims for motor neuron diseases were identified for comparison. A subset of these patients with ≥ 3 years of claims data was included in a time to diagnosis analysis. …”
Publicado 2013
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1104por Italiani, Paola, Carlesi, Cecilia, Giungato, Paola, Puxeddu, Ilaria, Borroni, Barbara, Bossù, Paola, Migliorini, Paola, Siciliano, Gabriele, Boraschi, Diana“…BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease leading to the death of affected individuals within years. …”
Publicado 2014
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1105por Faravelli, Irene, Bucchia, Monica, Rinchetti, Paola, Nizzardo, Monica, Simone, Chiara, Frattini, Emanuele, Corti, Stefania“…Motor neurons are affected primarily by a wide spectrum of neurological disorders, generally indicated as motor neuron diseases (MNDs): these disorders share symptoms related to muscular atrophy and paralysis leading to death. …”
Publicado 2014
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1106por McGorum, Bruce C, Pirie, R Scott, Glendinning, Laura, McLachlan, Gerry, Metcalf, James S, Banack, Sandra A, Cox, Paul A, Codd, Geoffrey A“…Further work was performed to test the hypothesis that ingestion of cyanotoxins contributes to the pathogenesis of some currently unexplained diseases of grazing horses, including equine grass sickness (EGS), equine motor neuron disease (EMND) and hepatopathy. Phormidium population density was significantly higher on EGS fields than on control fields. …”
Publicado 2015
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1107por Genç, Barış, Lagrimas, Amiko Krisa Bunag, Kuru, Pınar, Hess, Robert, Tu, Michael William, Menichella, Daniela Maria, Miller, Richard J., Paller, Amy S., Özdinler, P. Hande“…In this report, we used UCHL1-eGFP reporter line in two different disease paradigms: diabetes and motor neuron disease. eGFP expression in sensory axons helped determine changes in epidermal nerve fiber density in a high-fat diet induced diabetes model. …”
Publicado 2015
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1108por Barulli, Maria Rosaria, Fontana, Andrea, Panza, Francesco, Copetti, Massimiliano, Bruno, Stefania, Tursi, Marianna, Iurillo, Annalisa, Tortelli, Rosanna, Capozzo, Rosa, Simone, Isabella Laura, Logroscino, Giancarlo“…SETTING: A multidisciplinary tertiary centre for motor neuron disease. PARTICIPANTS: We enrolled 95 consecutive patients with ALS diagnosed with El Escorial criteria in the period between January 2006 and December 2010. …”
Publicado 2015
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1109por King, Andrew, Troakes, Claire, Smith, Bradley, Nolan, Matthew, Curran, Olimpia, Vance, Caroline, Shaw, Christopher E., Al-Sarraj, Safa“…CONCLUSIONS: The study confirms cases of ALS-FUS to be mainly a lower motor neuron disease and to have pathology that does not appear to neatly correlate with clinical features or genetics. …”
Publicado 2015
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1110por Cacabelos, Daniel, Ramírez-Núñez, Omar, Granado-Serrano, Ana Belén, Torres, Pascual, Ayala, Victòria, Moiseeva, Victoria, Povedano, Mònica, Ferrer, Isidre, Pamplona, Reinald, Portero-Otin, Manuel, Boada, Jordi“…INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a gender bias towards major prevalence in male individuals. …”
Publicado 2016
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1111por Sakae, Nobutaka, Bieniek, Kevin F., Zhang, Yong-Jie, Ross, Kelly, Gendron, Tania F., Murray, Melissa E., Rademakers, Rosa, Petrucelli, Leonard, Dickson, Dennis W.“…An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic cause of both FTLD and motor neuron disease (MND). Dipeptide repeat polymers (DPR) are generated through repeat-associated non-ATG translation, and they aggregate in neuronal inclusions with a distribution distinct from that of TDP-43 pathology. …”
Publicado 2018
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1112“…ANIMALS: 25 clinical cases of equine neurological disease: EPM (10), cervical vertebral stenotic myelopathy (CVSM) (10), neuroborreliosis (2), equine motor neuron disease (1), degenerative myelopathy (1), and leukoencephalomalacia (1). …”
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1113por Kobayakawa, Yuko, Masaki, Katsuhisa, Yamasaki, Ryo, Shiraishi, Wataru, Hayashida, Shotaro, Hayashi, Shintaro, Okamoto, Koichi, Matsushita, Takuya, Kira, Jun-ichi“…We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1(G93A)) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases. We found that in the lamina IX of the lumbar spinal cord from wild type mice, about half of the Cx36 puncta existed independently of chemical synapse markers, while the rest coexisted with chemical synapse markers, such as vesicular glutamate transporter 1 (VGLUT1), which is a glutamatergic axon terminal marker, and/or glutamate decarboxylase 65 (GAD65), which is a GABAergic axon terminal marker. …”
Publicado 2018
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1114por Vijayakumar, Udaya Geetha, Milla, Vanessa, Cynthia Stafford, Mei Yu, Bjourson, Anthony J., Duddy, William, Duguez, Stephanie Marie-Rose“…Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is an incurable neurodegenerative condition, characterized by the loss of upper and lower motor neurons. …”
Publicado 2019
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1115por Kosuge, Yasuhiro, Nango, Hiroshi, Kasai, Hiroki, Yanagi, Takuya, Mawatari, Takayuki, Nishiyama, Kenta, Miyagishi, Hiroko, Ishige, Kumiko, Ito, Yoshihisa“…Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease characterized by progressive degeneration of motor neurons in the central nervous system. …”
Publicado 2020
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1116por Lanznaster, Débora, Hergesheimer, Rudolf C., Bakkouche, Salah Eddine, Beltran, Stephane, Vourc’h, Patrick, Andres, Christian R., Dufour-Rainfray, Diane, Corcia, Philippe, Blasco, Hélène“…Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease, but its definitive diagnosis delays around 12 months. …”
Publicado 2020
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1117por Cerino, Mathieu, Di Meglio, Chloé, Albertini, Francesca, Audic, Frédérique, Riccardi, Florence, Boulay, Christophe, Philip, Nicole, Bartoli, Marc, Lévy, Nicolas, Krahn, Martin, Chabrol, Brigitte“…BACKGROUND: GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1, OMIM#253310) and congenital arthrogryposis with anterior horn cell disease (CAAHD, OMIM#611890). …”
Publicado 2020
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1118por Hauser, Stefan, Schuster, Stefanie, Heuten, Elena, Höflinger, Philip, Admard, Jakob, Schelling, Yvonne, Velic, Ana, Macek, Boris, Ossowski, Stephan, Schöls, Ludger“…In this study we investigated expression profiles of (i) PBMCs and (ii) fibroblasts as patient derived cells as well as (iii) lymphoblasts and (iv) induced pluripotent stem cells (iPSC) as immortalized sources, and (v) iPSC-derived cortical neurons to assess their aptitude to model motor neuron diseases (MNDs) including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). …”
Publicado 2020
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1119por Dominguez, Jacqueline, Yu, Jeryl Tan, Tan, Yi Jayne, Ng, Arlene, De Guzman, Ma Fe, Natividad, Boots, Daroy, Ma Luisa, Cano, Jemellee, Yu, Justine, Lian, Michelle M., Zeng, Li, Lim, Weng Khong, Foo, Jia Nee, Ng, Adeline S. L.“…Notably, none of the affected members showed any evidence of motor neuron disease or ALS at the time of writing, both clinically and on electrophysiological testing, expanding the phenotypic spectrum of OPTN mutations. …”
Publicado 2021
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1120por Kurpershoek, Elisabeth, Hillen, Marij A., Medendorp, Niki M., de Bie, Rob M. A., de Visser, Marianne, Dijk, Joke M.“…There is ample evidence that ACP improves the quality of life and promotes the autonomy of patients with cancer and motor neuron disease who have a high disease burden and shortened life expectancy. …”
Publicado 2021
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