|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this study, we assess coping strategy use in the motor neuron disease (MND, also known as amyotrophic lateral sclerosis [ALS]) population and examine associations of demographic and disease variables with individual coping strategies.
|
31058309 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Motor neuron disease (MND) includes both ALS and Progressive Muscular Atrophy (PMA) as variants.
|
30665069 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Amyloid fibrils are pathological hallmarks of various human diseases, including Parkinson's, Alzheimer's, amyotrophic lateral sclerosis (ALS or motor neurone disease), and prion diseases.
|
30548150 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
We considered all consecutive ALS patients referred to our Motor Neuron Diseases Center between 2006 and 2016 and included only patients who fulfilled the El Escorial revised criteria for probable and definite ALS diagnosis.
|
31634749 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results are in contrast with the previously proposed theory that a loss of function is the underlying mechanism in SOD1-related motor neuron disease and should be considered before application of previously proposed SOD1 silencing as a treatment option for amyotrophic lateral sclerosis.
|
31332433 |
2019 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Expansions of a G4C2 repeat within intron 1 of this gene are associated with the motor neuron disease ALS and dementia FTD, which comprise a clinical and pathological spectrum.
|
31550516 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
For instance in ALS and other motor neuron diseases, available evidence suggests the coexistence of quite different roles for microglia, characterized by neuroprotective functions at early stages, and neurotoxic actions during disease progression.
|
31009755 |
2019 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Variation in assistive technology use in Motor Neuron Disease according to clinical phenotypes and ALS Functional Rating Scale - Revised Score: A prospective observational study.
|
31006691 |
2019 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no effective treatment is available, despite decades of research into SOD1-mutant familial ALS (FALS).
|
30127392 |
2018 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed extensive immunopathological analyses using mutant superoxide dismutase 1 (SOD1<sup>G93A</sup>) transgenic mice and their littermates to investigate whether Cx36-made electrical synapses are affected in motor neuron diseases.
|
30546295 |
2018 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
This literature review and clinical case report about a 45-year-old man with no family history of motor neuron disease who developed overt symptoms of a neuromuscular disorder in close temporal association with his unwitting occupational exposure to volatile organic compounds (VOCs) puts forth the hypothesis that exposure to VOCs such as toluene, which disrupt motor function and increase oxidative stress, can unmask latent ALS type neuromuscular disorder in susceptible individuals.
|
29125194 |
2018 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
As of 20th January 2017, the MND Quality Registry included 99% of the MND patients of the Stockholm area (N = 194), consisting mostly of ALS patients (N = 153, 78.9%), followed by patients labeled as MND due to a neurophysiology finding but not fulfilling the criteria for ALS (N = 20, 10.3%), primary lateral sclerosis (N = 13, 6.7%), and progressive spinal muscular atrophy patients (N = 8, 4.1%).
|
30296856 |
2018 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The recent identification of profilin1 mutations in 25 familial ALS cases has linked altered function of this cytoskeleton-regulating protein to the pathogenesis of motor neuron disease.
|
28040732 |
2017 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The findings mirror the impact of human SOD1 mutations that reduce net charge and/or stability and cause ALS, a motor neuron disease characterized by oxidative stress and SOD1 aggregates and triggered by aging.
|
28389720 |
2017 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Slowly progressive motor neuron disease with multi-system involvement related to p.E121G SOD1 mutation.
|
27892702 |
2017 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using a mouse model expressing a mutant SEMA3A with diminished signaling capacity, we studied the influence of SEMA3A signaling at the NMJ with two denervation paradigms; a motor neuron disease model (the G93A-hSOD1 ALS mouse line) and an injury model (BotoxA-induced paralysis).
|
28103314 |
2017 |
|
Motor Neuron Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.
|
28089114 |
2017 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age.
|
26972116 |
2016 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk factors for motor neuron disease (ALS and FTLD) and perhaps also for Levodopa-responsive Parkinson's disease (PD).
|
27597528 |
2016 |
|
Motor Neuron Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The clinical phenotype varied from proximal sensorimotor neuropathy to spinal muscular atrophy and in one case resembled motor neuron disease ALS at its early stages.
|
26224640 |
2016 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We recently showed that terminal Schwann cells (TSCs) exhibit abnormalities in postnatal mice that express mutations of the SOD1 enzyme found in inherited human motor neuron disease.
|
26853136 |
2016 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formation of high molecular weight insoluble SOD1 species that is correlated with the progression of the motor neuron disease phenotype.
|
25762155 |
2015 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene.
|
26203661 |
2015 |
|
Motor Neuron Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in SOD1 cause amyotrophic lateral sclerosis (ALS), an incurable motor neuron disease.
|
25761970 |
2015 |