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201“…BACKGROUND: Frontotemporal dementia (FTD) with motor neuron disease (MND) is a syndrome of progressive changes in behavior, language, muscle weakness and atrophy due to loss of function of neurons in the frontal and temporal lobes and in motor neurons. …”
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202“…There is predominant involvement of spinal cord posterior and lateral tracts, and manifestations include peripheral paraesthesia, impaired proprioception, gait disturbance, neuropathy and cognitive changes. Motor neuron disease (MND) is an unremittingly progressive neurodegenerative disorder involving upper and lower motor neurons with an average prognosis of 2–3 years. …”
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203por Chantadul, Varunya, Wright, Gareth S. A., Amporndanai, Kangsa, Shahid, Munazza, Antonyuk, Svetlana V., Washbourn, Gina, Rogers, Michael, Roberts, Natalie, Pye, Matthew, O’Neill, Paul M., Hasnain, S. Samar“…Mutations to the gene encoding superoxide dismutase-1 (SOD1) were the first genetic elements discovered that cause motor neuron disease (MND). These mutations result in compromised SOD1 dimer stability, with one of the severest and most common mutations Ala4Val (A4V) displaying a propensity to monomerise and aggregate leading to neuronal death. …”
Publicado 2020
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204por Glasmacher, Stella A., Larraz, Juan, Mehta, Arpan R., Kearns, Patrick K. A., Wong, Michael, Newton, Judith, Davenport, Richard, Gorrie, George, Morrison, Ian, Carod Artal, Javier, Chandran, Siddharthan, Pal, SuvankarEnlace del recurso
Publicado 2020
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206por Gonzalez‐Quereda, Lidia, Pagola, Inmaculada, Fuentes Prior, Pablo, Bernal, Sara, Rodriguez, Maria Jose, Torné, Laura, Salgado Garrido, Josefa, Gallano, Pia, Jericó, Ivonne“…Two families with low motor neuron disease (LMND) caused by mutations in PLEKHG5 have been reported to date. …”
Publicado 2020
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207“…Cervical spondylotic myelopathy (CSM) and amyotrophic lateral sclerosis (ALS) share some clinical findings. Hence, motor neuron disease (MND) should be considered in the differential diagnosis of patients presenting with signs and symptoms of CSM. …”
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208“…Cervical myelopathy is part of ALS mimic syndrome and should be considered in patients with clinical signs of motor neuron disease.…”
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209por Bakers, Jaap N. E., van den Berg, Leonard H., Ajeks, Toju G., Holleman, Maxine J., Verhoeven, Jill, Beelen, Anita, Visser-Meily, Johanna M. A., van Eijk, Ruben P. A.“…BACKGROUND: We aimed to determine (1) the test–retest reliability of a newly developed portable fixed dynamometer (PFD) as compared to the hand-held dynamometer (HHD) in patients with motor neuron disease (MND) and (2) the PFD’s ability to reduce possible examiner-induced ceiling effects. …”
Publicado 2020
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211por Burchardt, Judith M., Mei, Xue W., Ranger, Tom, McDermott, Christopher J., Radunovic, Aleksandar, Coupland, Carol, Hippisley-Cox, Julia“…Objective: This study uses three linked datasets to provide an estimate of incidence of motor neuron disease (MND) in England from 1998 to 2019. …”
Publicado 2022
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212por Paladi, Bhargavi, Amin, Dhanush, Yarlagadda, Jyotsna, Jadav, Sriram, Jabeen, S. Afshan“…Introduction Hirayama disease (HD) is a benign self-limiting motor neuron disease, most commonly occurring in young males. …”
Publicado 2022
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213por McDermott, Christopher J, Maguire, Chin, Cooper, Cindy L, Ackroyd, Roger, Baird, Wendy O, Baudouin, Simon, Bentley, Andrew, Bianchi, Stephen, Bourke, Stephen, Bradburn, Mike J, Dixon, Simon, Ealing, John, Galloway, Simon, Karat, Dayalan, Maynard, Nick, Morrison, Karen, Mustfa, Naveed, Stradling, John, Talbot, Kevin, Williams, Tim, Shaw, Pamela J“…BACKGROUND: Motor neurone disease (MND) is a devastating illness which leads to muscle weakness and death, usually within 2-3 years of symptom onset. …”
Publicado 2012
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214por Davidson, Yvonne S, Barker, Holly, Robinson, Andrew C, Thompson, Jennifer C, Harris, Jenny, Troakes, Claire, Smith, Bradley, Al-Saraj, Safa, Shaw, Chris, Rollinson, Sara, Masuda-Suzukake, Masami, Hasegawa, Masato, Pickering-Brown, Stuart, Snowden, Julie S, Mann, David M“…A hexanucleotide (GGGGCC) expansion in C9ORF72 gene is the most common genetic change seen in familial Frontotemporal Lobar Degeneration (FTLD) and familial Motor Neurone Disease (MND). Pathologically, expansion bearers show characteristic p62 positive, TDP-43 negative inclusion bodies within cerebellar and hippocampal neurons which also contain dipeptide repeat proteins (DPR) formed from sense and antisense RAN (repeat associated non ATG-initiated) translation of the expanded repeat region itself. …”
Publicado 2014
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215“…Over the past 30 years, many molecular genetic mechanisms underlying motor neuron diseases (MNDs) have been discovered and studied. …”
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216por Faravelli, Irene, Frattini, Emanuele, Ramirez, Agnese, Stuppia, Giulia, Nizzardo, Monica, Corti, Stefania“…Motor neuron diseases (MNDs) are neuromuscular disorders affecting rather exclusively upper motor neurons (UMNs) and/or lower motor neurons (LMNs). …”
Publicado 2014
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217“…Background: The age standardised death rate from motor neuron disease (MND) has increased from 1.29 to 2.74 per 100,000, an increase of 112.4% between 1959 and 2013. …”
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218“…CONCLUSION: These results provide compelling preclinical evidence indicating that IL-6 does not directly contribute to motor neuron disease caused by SOD1 mutations.…”
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220por Sedghi, Maryam, Moslemi, Ali‐Reza, Olive, Montse, Etemadifar, Masoud, Ansari, Behnaz, Nasiri, Jafar, Emrahi, Leila, Mianesaz, Hamid‐Reza, Laing, Nigel G., Tajsharghi, Homa“…CONCLUSIONS: Our findings unveil the impact of the variant on the VRK1 transcript and further support the implication of VRK1 in the pathogenesis of lower motor neuron diseases.…”
Publicado 2019
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