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Mostrando 1,121 - 1,140 Resultados de 1,213 Para Buscar '"motor neurone disease"', tiempo de consulta: 0.30s Limitar resultados
  1. 1121
    “…Efforts to identify biomarkers for SMA, a genetic motor neuron disease characterized by motor neuron degeneration and weakness, have culminated in a number of putative molecular and physiologic markers that evaluate biological media (eg, blood and cerebrospinal fluid [CSF]) or nervous system function. …”
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    Update on Biomarkers in Spinal Muscular Atrophy
  2. 1122
    “…METHODS: We searched PubMed, MEDLINE, OVID‐EMBASE, PsycINFO, and SpeechBITE using terms related to spoken language for the following dementia types: Parkinson's disease dementia (PDD), dementia with Lewy bodies (DLB), progressive supranuclear palsy (PSP), cortico‐basal syndrome (CBS), behavior variant frontotemporal dementia (bvFTD), early‐onset Alzheimer's disease (EOAD), posterior cortical atrophy (PCA), and motor neuron disease associated with FTD (MND+FTD). Risk of bias was assessed with the QualSyst tool. …”
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    When it is not primary progressive aphasia: A scoping review of spoken language impairment in other neurodegenerative dementias
  3. 1123
    “…A recent discovery linked mutant PFN1 to Amyotrophic Lateral Sclerosis (ALS), which is a fatal and progressive motor neuron disease. We have also demonstrated that Gly118Val mutation in PFN1 is a cause of ALS, and the formation of aggregates containing mutant PFN1 may be a mechanism for motor neuron death. …”
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    Mutant Profilin1 Aggregation in Amyotrophic Lateral Sclerosis: An in Vivo Biochemical Analysis
  4. 1124
    “…There are other types of FTD-related disorders that present motor impairment and/or parkinsonism, including FTD with motor neuron disease (FTD-MND), progressive supranuclear palsy (PSP), and corticobasal syndrome (CBS). …”
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    Multidimensional Clinical Assessment in Frontotemporal Dementia and Its Spectrum in Latin America and the Caribbean: A Narrative Review and a Glance at Future Challenges
  5. 1125
    “…Simplified search strategy included the terms ALS/motor neuron disease and [BCNSB or blood-brain barrier (BBB) or blood-spinal cord barrier (BSCB)]. …”
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    Breached Barriers: A Scoping Review of Blood-Central Nervous System Barrier Pathology in Amyotrophic Lateral Sclerosis
  6. 1126
    “…Amyotrophic lateral sclerosis (ALS) is the most common adult‐onset motor neuron disease, caused by the progressive degeneration of motor neurons in the spinal cord, brain stem, and motor cortex. …”
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    NR1D1 downregulation in astrocytes induces a phenotype that is detrimental to cocultured motor neurons
  7. 1127
    “…BACKGROUND AND PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disease. Selective deficiency of edited adenosine deaminase acting on RNA 2 (ADAR2), a key molecule in the acquisition of Ca(2+) resistance in motor neurons, has been reported in sporadic ALS (sALS) spinal motor neurons. …”
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    Prolyl Isomerase Pin1 Expression in the Spinal Motor Neurons of Patients With Sporadic Amyotrophic Lateral Sclerosis
  8. 1128
    “…INTERPRETATION: This assay of net retrograde axonal transport has broad potential clinical applications and should be particularly valuable as a physiological biomarker that permits early detection of benefit from potential therapies for motor neuron diseases. ANN NEUROL 2022;91:716–729…”
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    Imaging Net Retrograde Axonal Transport In Vivo: A Physiological Biomarker
  9. 1129
    “…We project human FAF1 as an important protein target to alleviate the progression of motor neuron disease.…”
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    Caspar, an adapter for VAPB and TER94, modulates the progression of ALS8 by regulating IMD/NFκB-mediated glial inflammation in a Drosophila model of human disease
  10. 1130
    “…Recently, homozygosity for loss-of-function mutations in SOD1 has been reported in patients presenting with infantile-onset motor neuron disease. We explored the bodily effects of superoxide dismutase-1 enzymatic deficiency in eight children homozygous for the p.C112Wfs*11 truncating mutation. …”
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    The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
  11. 1131
    “…BACKGROUND AND OBJECTIVES: Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. …”
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    Genetic characterization of primary lateral sclerosis
  12. 1132
    “…The Mexican case presented with FTD and motor neuron disease (MND), showing grey matter reduction in basal ganglia and thalamus, and extensive TDP-43 type B pathology. …”
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    Frontotemporal dementia presentation in patients with heterozygous p.H157Y variant of TREM2
  13. 1133
    “…NfL was highest in patients with concomitant motor neuron disease, and correlated with disease severity and survival. …”
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    Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers
  14. 1134
    “…Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. …”
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    SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia
  15. 1135
    “…BACKGROUND: Motor neuron degeneration or loss in the spinal cord is the characteristic phenotype of motor neuron diseases or spinal cord injuries. Being proliferative and located near neurons, astrocytes are considered ideal cell sources for regenerating neurons. …”
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    Efficient and rapid conversion of human astrocytes and ALS mouse model spinal cord astrocytes into motor neuron-like cells by defined small molecules
  16. 1136
    “…OBJECTIVE: Spinal muscular atrophy (SMA) is a motor neuron disease caused by low levels of survival motor neuron (SMN) protein. …”
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    Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen
  17. 1137
    “…BACKGROUND: Recent evidence points toward a role of the small ubiquitin-like modifier (SUMO) system, including SUMO4, in protecting from stress insults and neurodegeneration, such as the progressive motor neuron disease amyotrophic lateral sclerosis (ALS), e.g., by regulating stress granule (SG) dynamics. …”
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    A SUMO4 initiator codon variant in amyotrophic lateral sclerosis reduces SUMO4 expression and alters stress granule dynamics
  18. 1138
    “…Notably, sensory and motor neuron diseases such as hereditary sensory and autonomic neuropathy type 2 (HSAN2) and spastic paraplegia 30 (SPG30) share several causative genes with ALS, as well as having common clinical phenotypes. …”
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    Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
  19. 1139
    “…The objective of this study was to evaluate the potential impact of HABs on neurodegenerative diseases (NDs), including Alzheimer’s disease, Parkinson’s disease, and motor neuron disease, at a population level. METHODS: Thirteen-year data (2005–2017) for chlorophyll-a (chl-a) concentrations as a bloom-related parameter, annual numbers of NDs, and population information were collected. …”
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    Relationship between freshwater harmful algal blooms and neurodegenerative disease incidence rates in South Korea
  20. 1140
    por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
    Publicado 2014
    “…Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. …”
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    Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
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