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Mostrando 981 - 1,000 Resultados de 1,213 Para Buscar '"motor neurone disease"', tiempo de consulta: 0.26s Limitar resultados
  1. 981
    “…Synaptic abnormalities, perturbed endosomal recycling mediated by loss of the small GTPase RAB11, and neuroinflammatory signaling have been associated with multiple neurodegenerative diseases including the motor neuron disease, amyotrophic lateral sclerosis (ALS). …”
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    Loss of endosomal recycling factor RAB11 coupled with complex regulation of MAPK/ERK/AKT signaling in postmortem spinal cord specimens of sporadic amyotrophic lateral sclerosis patients
  2. 982
    “…Spinal Muscular Atrophy (SMA) is a childhood motor neuron disease caused by mutations or deletions within the SMN1 gene. …”
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    Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy
  3. 983
    “…The predominant motor neuron disease in infants and adults is spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), respectively. …”
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    SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1
  4. 984
    “…Spinal bulbar muscular atrophy (SBMA) is an adult-onset, slowly progressive motor neuron disease caused by abnormal CAG repeat expansion in the androgen receptor (AR) gene. …”
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    Unveiling synapse pathology in spinal bulbar muscular atrophy by genome-wide transcriptome analysis of purified motor neurons derived from disease specific iPSCs
  5. 985
    “…Additional clinical features, including parkinsonism and motor neuron disease, may represent relevant cues for an early diagnosis and adequate management.…”
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    Late-onset oro-facial dyskinesia in Spinocerebellar Ataxia type 2: a case report
  6. 986
    “…Therefore, the aim of our work is to further explore the architecture of ALS using targeted next generation sequencing (NGS) analysis, enriched in motor neuron diseases (MND)-associated genes which are also implicated in axonal hereditary motor neuropathy (HMN), in order to investigate if disease expression, including the progression rate, could be influenced by the combination of multiple rare gene variants. …”
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    Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort
  7. 987
    “…These disorders include Alzheimer's disease, Parkinson's disease, and motor neuron diseases such as amyotrophic lateral sclerosis (ALS). …”
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    Neuropathy target esterase (NTE/PNPLA6) and organophosphorus compound-induced delayed neurotoxicity (OPIDN)()
  8. 988
    “…In slowly progressive cases, diagnosis may be impeded by equivocal imaging results and mistaken for evolving upper motor neuron disease. As early imaging studies are lacking, we aimed to provide a detailed description of imaging and neurophysiology findings in a patient with aSCH, focusing on the early symptomatic stages. …”
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    Long-term course of anterior spinal cord herniation presenting with an upper motor neuron syndrome: case report illustrating diagnostic and therapeutic implications
  9. 989
    “…In this study, we performed RNA sequencing of microglia isolated from three representative neurodegenerative mouse models, App(NL-G-F/NL-G-F) with amyloid pathology, rTg4510 with tauopathy, and SOD1(G93A) with motor neuron disease by magnetic activated cell sorting. …”
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    Microglial gene signature reveals loss of homeostatic microglia associated with neurodegeneration of Alzheimer’s disease
  10. 990
    “…Cognitive function on the Addenbrooke’s cognitive examination (ACE) scale, behavioural function on the motor neuron disease behavior scale (MiND-B) and cortical excitability using transcranial magnetic stimulation (TMS) were documented. …”
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    Motor cortical excitability predicts cognitive phenotypes in amyotrophic lateral sclerosis
  11. 991
    “…BACKGROUND: The complement system has been suggested to be involved in the pathophysiology of amyotrophic lateral sclerosis (ALS), a progressive motor neuron disease. In the present study, we compared levels of selected complement markers to clinical outcome in ALS patients. …”
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    Complement Profiles in Patients with Amyotrophic Lateral Sclerosis: A Prospective Observational Cohort Study
  12. 992
    “…To examine the length of a hexanucleotide expansion in C9orf72, which represents the most frequent genetic cause of frontotemporal lobar degeneration and motor neuron disease, we employed a targeted amplification-free long-read sequencing technology: No-Amp sequencing. …”
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    Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases
  13. 993
    “…Background: Spinal and bulbar muscular atrophy (SBMA) is an X-lined motor neuron disease characterized by progressive muscle weakness, bulbar palsy, and dysphagia. …”
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    Correlation Between Maximal Tongue Pressure and Swallowing Function in Spinal and Bulbar Muscular Atrophy
  14. 994
    “…Delayed diagnosis and misdiagnosis are frequent in people with amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease (MND). Neurofilament light chain (NFL) and phosphorylated neurofilament heavy chain (pNFH) are elevated in ALS patients. …”
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    Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
  15. 995
    “…In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). …”
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    A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
  16. 996
    “…BACKGROUND: Flail arm syndrome is a restricted phenotype of motor neuron disease that is characterized by progressive, predominantly proximal weakness and atrophy of the upper limbs. …”
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    Involvement of cortico-efferent tracts in flail arm syndrome: a tract-of-interest-based DTI study
  17. 997
    “…Although considered to be a pure motor neuron disease, increasing evidence indicates that the sole protection of motor neurons by a single targeted drug is not sufficient to improve the pathological phenotype. …”
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    Repurposing of Trimetazidine for amyotrophic lateral sclerosis: A study in SOD1(G93A) mice
  18. 998
    “…The clinical findings and those of the complementary tests were compatible with Hirayama disease (HD), a rare benign motor neuron disease that affects cervical spinal segments and is most prevalent in men, with onset in the early 20s. …”
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    Hirayama Disease: Case Report*
  19. 999
    “…DALYs of idiopathic epilepsy and motor neuron disease increased in the WHO South-East Asia region and decreased in the WHO Western Pacific region. …”
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    Burden of neurological diseases in Asia from 1990 to 2019: a systematic analysis using the Global Burden of Disease Study data
  20. 1000
    “…PARTICIPANTS: Participants were informal caregivers of people living with ALS (plwALS) attending the national ALS/motor neuron disease Clinic Dublin. This study focuses on informal caregivers who completed five consecutive interviews (n = 17) as part of a larger multisite study, over the course of 2.5 years. …”
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    Care, burden and self-described positive aspects of caring in amyotrophic lateral sclerosis: an exploratory, longitudinal, mixed-methods study
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