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521“…The further discovery that brain-derived neurotrophic factor (BDNF), ciliary neurotrophic factor (CNTF) and glial cell line-derived neurotrophic factor (GDNF) had potent survival-promoting activity on motor neurons led to the proposal for their use in motor neuron diseases such as amyotrophic lateral sclerosis (ALS). …”
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522“…Motor neuron diseases (MNDs) are a rather heterogeneous group of diseases, with either sporadic or genetic origin or both, all characterized by the progressive degeneration of motor neurons. …”
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523por Fratta, Pietro, Collins, Toby, Pemble, Sally, Nethisinghe, Suran, Devoy, Anny, Giunti, Paola, Sweeney, Mary G., Hanna, Michael G., Fisher, Elizabeth M.C.“…Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. …”
Publicado 2014
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524por Zanetta, Chiara, Riboldi, Giulietta, Nizzardo, Monica, Simone, Chiara, Faravelli, Irene, Bresolin, Nereo, Comi, Giacomo P, Corti, Stefania“…Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease. It is the first genetic cause of infant mortality. …”
Publicado 2014
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525por Harschnitz, Oliver, Jongbloed, Bas A., Franssen, Hessel, Straver, Dirk C. G, van der Pol, W. Ludo, van den Berg, Leonard H.“…Clinically MMN is a pure motor neuropathy, which as such can mimic motor neuron disease. GM1-specific IgM antibodies are present in the serum of approximately half of all MMN patients, and are thought to play a key role in the immune pathophysiology. …”
Publicado 2014
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526por Boczonadi, Veronika, Müller, Juliane S., Pyle, Angela, Munkley, Jennifer, Dor, Talya, Quartararo, Jade, Ferrero, Ileana, Karcagi, Veronika, Giunta, Michele, Polvikoski, Tuomo, Birchall, Daniel, Princzinger, Agota, Cinnamon, Yuval, Lützkendorf, Susanne, Piko, Henriett, Reza, Mojgan, Florez, Laura, Santibanez-Koref, Mauro, Griffin, Helen, Schuelke, Markus, Elpeleg, Orly, Kalaydjieva, Luba, Lochmüller, Hanns, Elliott, David J., Chinnery, Patrick F., Edvardson, Shimon, Horvath, Rita“…Affected individuals have cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system or spinal motor neuron disease. Experimental downregulation of EXOSC8 in human oligodendroglia cells and in zebrafish induce a specific increase in ARE mRNAs encoding myelin proteins, showing that the imbalanced supply of myelin proteins causes the disruption of myelin, and explaining the clinical presentation. …”
Publicado 2014
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527“…We also show the application of this system to study proteins implicated in motor neuron disease.…”
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528“…Changes to this coupling is associated with a number of metabolic disorders and neurodegenerative diseases including Alzheimer’s, Parkinson’s and motor neuron disease. The distance between the two membranes at regions of close apposition is below the resolution of conventional light microscopy, which makes analysis of these interactions challenging. …”
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529por Naumann, Marcel, Pal, Arun, Goswami, Anand, Lojewski, Xenia, Japtok, Julia, Vehlow, Anne, Naujock, Maximilian, Günther, René, Jin, Mengmeng, Stanslowsky, Nancy, Reinhardt, Peter, Sterneckert, Jared, Frickenhaus, Marie, Pan-Montojo, Francisco, Storkebaum, Erik, Poser, Ina, Freischmidt, Axel, Weishaupt, Jochen H., Holzmann, Karlheinz, Troost, Dirk, Ludolph, Albert C., Boeckers, Tobias M., Liebau, Stefan, Petri, Susanne, Cordes, Nils, Hyman, Anthony A., Wegner, Florian, Grill, Stephan W., Weis, Joachim, Storch, Alexander, Hermann, Andreas“…Amyotrophic lateral sclerosis (ALS) is the most frequent motor neuron disease. Cytoplasmic fused in sarcoma (FUS) aggregates are pathological hallmarks of FUS-ALS. …”
Publicado 2018
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530“…RATIONALE: Monomelic amyotrophy (MMA) is a benign motor neuron disease with bilateral muscular atrophy in asymmetry and abnormal in the electromyography (EMG). …”
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531“…Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease in adults and primarily targets upper and lower motor neurons. …”
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532“…Amyotrophic lateral sclerosis (ALS) is one of the most common motor neuron diseases (MND), which presents as muscle weakness, atrophy, spasticity, and, in extreme cases, may result in death due to respiratory failure. …”
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533por Kesserwani, Hassan“…However, peripheral causes such as motor neuron disease, mononeuritis multiplex (vasculitis), bilateral brachial plexopathy, and critical illness myopathy have been sporadically reported and can stochastically inflict the motor nerves or muscles of the upper extremities. …”
Publicado 2021
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534por Tarek, Nayera, Mandour, Mariam Abo, El-Madah, Nada, Ali, Reem, Yahia, Sara, Mohamed, Bassant, Mostafa, Dina, El-Metwally, Sara“…With cost less than 30$, patients with motor neuron diseases such as Amyotrophic Lateral Sclerosis (ALS) can communicate easily with the others, express their needs and simply live their life normally.…”
Publicado 2021
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535“…Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the most severe cases and when left untreated, leads to death within the first two years of life. …”
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536por Regensburger, Adrian P., Wagner, Alexandra L., Danko, Vera, Jüngert, Jörg, Federle, Anna, Klett, Daniel, Schuessler, Stephanie, Buehler, Adrian, Neurath, Markus F., Roos, Andreas, Lochmüller, Hanns, Woelfle, Joachim, Trollmann, Regina, Waldner, Maximilian J., Knieling, Ferdinand“…Proximal spinal muscular atrophy (SMA) is a rare progressive, life limiting genetic motor neuron disease. While promising causal therapies are available, meaningful prognostic biomarkers for therapeutic monitoring are missing. …”
Publicado 2021
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537por Ruiz-Barrio, Iñigo, Horta-Barba, Andrea, Illán-Gala, Ignacio, Kulisevsky, Jaime, Pagonabarraga, Javier“…Through this review, we describe how early age of onset, family history of early dementia, parkinsonism, dystonia, or motor neuron disease among other clinical features, as well as some neuroimaging signatures, may be the important clues to suspect PSP syndrome of monogenic origin. …”
Publicado 2022
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538“…Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron disease, pigmentary retinopathy, epilepsy, and dementia in varying proportions. …”
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539por Ayers, Jacob I., Xu, Guilian, Dillon, Kristy, Lu, Qing, Chen, Zhijuan, Beckman, John, Moreno-Romero, Alma K., Zamora, Diana L., Galaleldeen, Ahmad, Borchelt, David R.“…Misfolded forms of superoxide dismutase 1 (SOD1) with mutations associated with familial amyotrophic lateral sclerosis (fALS) exhibit prion characteristics, including the ability to act as seeds to accelerate motor neuron disease in mouse models. A key feature of infectious prion seeding is that the efficiency of transmission is governed by the primary sequence of prion protein (PrP). …”
Publicado 2021
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540“…INTERVENTION AND OUTCOME: After 1 month of treatment with tui na and traditional western medicine, the patient’s lung function and quality of life improved and he was discharged from the hospital. DIAGNOSES: Motor neuron disease. Amyotrophic lateral sclerosis. LESSONS: The physiological function of ALS patients can be improved through the intervention of tui na.…”
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