Sporadic ALS (SALS)
Conformational specificity of the C4F6 SOD1 antibody; low frequency of reactivity in sporadic ALS cases
... to sporadic ALS by demon- strating C4F6 immunoreactivity to spinal motor neurons in sALS cases ...from sALS cases and an A4V fALS case, they observed that C4F6 reacted with inclusions in the ...
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Potential Regulators of Sporadic ALS Development and Alternative Therapeutic Options
... diagnosis. Sporadic ALS (sALS) makes up 90% of all ALS cases with little known about the exact mechanism of pathogene- ...of sALS development have been proposed, several of which are ...
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Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS
... for sporadic ALS as described pre- viously by Greene et ...with ALS and 271 healthy controls [3] while the replication data consisted of 221 subjects with ALS and 211 healthy controls ...on ...
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Identification and therapeutic rescue of autophagosome and glutamate receptor defects in C9ORF72 and sporadic ALS neurons
... these sporadic ALS iMNs share defects in autophagosome formation and the aberrant accumulation of glutamate ...C9ORF72 ALS/FTD and sporadic ALS ...and sporadic ALS ...
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Oligogenic basis of sporadic ALS
... in ALS, and 4 additional patients had probably pathogenic rare variants in genes pre- viously implicated in motor neuron disease or peripheral ...of sporadic ALS: despite sharing a founder mutation, ...
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Incidence of pathogenic, likely pathogenic, and uncertain ALS variants in a clinic cohort
... clinically sporadic ALS (sALS), has opened the door to an era of per- sonalized, gene-targeted therapies for people with ...of ALS in clinic-based populations. Despite the progress in ...
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Genotype phenotype relationship in hereditary amyotrophic lateral sclerosis
... with ALS have an inherited form of the disease, the distinction between hereditary and apparently sporadic ALS (SALS) seems to be ...of ALS, to a greater or lesser ...of ALS, and ...
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IL-17A is increased in the serum and in spinal cord CD8 and mast cells of ALS patients
... in sporadic amyotrophic lateral sclerosis (sALS) is not well understood and no animal model is avail- ...of ALS patients (n = 32; 28 sporadic ALS (sALS) and 4 familial ALS ...
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Assessment of a multiple biomarker panel for diagnosis of amyotrophic lateral sclerosis
... of sporadic ALS with levels of pNfH, S100-β, cystatin C, and CHIT in CSF were explored using multivariate logistic regression, with ad- justment for age and sex as potential ...with sporadic ...
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Multi-Ethnic Comparison of the Characteristics of Amyotrophic Lateral Sclerosis-Related TBK1 Gene Variants
... familial ALS and ...with sporadic ALS. Patients with familial ALS have more TBK1 LoF variants than sporadic ALS patients, probably because they include family members with LoF ...
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Oligodendrocytes contribute to motor neuron death in ALS via SOD1 dependent mechanism
... four sporadic ALS samples, three carrying C9orf72 repeat expansion, as well as one carrying SOD1 and one TARDBP mutations ...two sporadic lines 002 and 009 were reprogrammed with both, the classic ...
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Neuregulin 1 confers neuroprotection in SOD1-linked amyotrophic lateral sclerosis mice via restoration of C-boutons of spinal motor neurons
... ALS patients, losses of C-boutons on spinal motor neu- rons remaining at autopsy were documented [8]. How- ever, alteration of C-boutons in symptomatic mutant SOD1 mice reported by several groups was variable: one ...
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PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons
... neuron; ALS, amyotrophic lateral sclerosis; GluR, glutamate receptor; SOD1, superoxide dismutase 1; LCM, laser capture microdissection; C9orf72, chromosome 9 open reading frame 72; ADAR2, adenosine deaminase ...
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Pathogenesis of FUS-associated ALS and FTD: insights from rodent models
... Despite the absence of confirmed genetic cases, inclu- sions immunoreactive for FUS are present in a small proportion FTLD cases (FTLD-FUS) and can be neuro- pathologically sub-categorised as atypical FTLD-U, neur- onal ...
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Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
... The first patient cohort served as our discovery dataset, while the second and third patient cohorts constituted our training datasets (Fig. 1). For this process, selected variants were subsequently validated in ...
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The use of small angle light scattering in assessing strain induced collagen degradation in arterial tissue ex vivo
... using SALS, making it unclear as to whether degradation once again increases with further strain as identified in reconstituted collagen tapes (Huang and Yannas, 1977) and bovine pericardium (Ghazanfari et ...
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Physical Properties in Aqueous Solutions for a Series of Alkyltrimethylammonium Salicylates (C12TA Sal through C16TA Sal): From a View Point of Drag Reduction
... Materials: Compounds for a series of ATA-Sals (C12 through C16) were synthesized by an ion exchange column of IRA400J CL (Organo Co) similar to the method by Gravsholt [10] using the corresponding ...
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Europe's Agenda 2000 Strengthening and widening the European Union Europe on the move, 1999
... Based on propo sals from the European Commission, and agreed upon at the EU summit in Berlin in March 1999, they responded to popular demands in Europe for: • greater equality of opport[r] ...
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Surgical strategy of bilateral synchronous sporadic renal cell carcinoma—experience of a Chinese university hospital
... Bilateral synchronous sporadic renal cell carcinoma (BSSRCC) is an uncommon disease accounting for 3~4.2% renal carcinomas [1, 2]. It is a difficult surgical dilemma for the urologist to formulate the therapeutic ...
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Sporadic Fatal Insomnia in an Adolescent
... of sporadic prion disease among adolescents is ex- tremely ...with sporadic fatal insomnia, a type of sporadic prion ...of sporadic prion ...
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