“…Ninety-three significantly associated loci (SALs) were detected by the mixed linear model, among which three were hub SALs (Co-6A, Co-6B and Co-6D) associated with root depth at both booting and mid-grain fill stages, as well as CT and YPP. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The IL-6 levels in astrocyte-derived exosomes were increased in sALS patients and positively associated with the rate of disease progression. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…No VCP-positive inclusion bodies were observed in SALS patients, a ALS-VCP patient or in control subjects. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Most of the ALS cases occur in sporadic forms (SALS), while 10%–15% of the cases have a positive familial history (FALS). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The combined rheology and rheo‐SALS data suggest that this is due to a fragmentation of the aggregates followed by re‐aggregation at even higher temperatures. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Additionally, we compared our dataset with publicly available data for the SALS spinal cord, and show a high correlation of changes linked to the diseased state in the SALS motor cortex. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Surprisingly, this short and unbiased gene list was sufficiently representative to allow the accurate separation of SALS patients from controls and the stratification of SALS patients into two molecularly distinct subgroups. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In a North American cohort of patients with familial ALS (fALS) and sporadic ALS (sALS) (n = 403) and age-matched healthy controls (n = 562), we subsequently showed that the SQSTM1 variant is associated with fALS (p = 0.0036), particularly in familial superoxide dismutase 1 mutation positive patients (p = 0.0005), but not with patients with sALS (p = 0.97). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Our findings highlight the importance of the nuclear localization of SOD1 as a protective mechanism in sALS patients.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Therefore, in this work, we wanted to carry out an exhaustive analysis of this signaling pathway in both transgenic mouse models (ALS and FTD) and human samples from patients with sporadic ALS (sALS) versus controls. In samples from patients with sALS and in the transgenic model with overexpression of TDP-43(A315T), we observed a significant increase in the NRF2/ARE pathway in the motor cortex and the spinal cord, indicating that NRF2 antioxidant signaling was being induced, but it was not enough to reach cellular homeostasis. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This study aims to explore the molecular mechanism of SOD1 filament formation by cysteine overoxidation in sporadic ALS (sALS). In this study, we determined the crystal structure of the double mutant (C57D/C146D) SOD1 that mimics the overoxidation of the disulfide-forming cysteine residues. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G294V, have genetic founder effects in certain geographic regions. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…While the individual variants of the subtypes do not influence the age of onset of the disease, a correlation was found between the specific haplotype GGAGCA (H1b) and the risk of developing sALS, with results showing that individuals harboring this haplotype have a nearly two-fold increased risk of developing sALS compared to other H1 subtypes. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Single-access laparoscopic surgery (SALS) can be effective for benign and malignant diseases of the ileum in both the elective and urgent setting. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…In view of the multifold increase observed in ALS-CSF, it can serve as a potential CSF biomarker for the diagnosis of SALS.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Here, we demonstrated that HSPB8 also counteracts accumulation of aberrantly localized misfolded forms of TDP-43 and its 25 KDa fragment involved in most sporadic cases of Amyotrophic Lateral Sclerosis (sALS) and of Fronto Lateral Temporal Dementia (FLTD). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…Herein, we report a p.Gly13Arg mutation in SOD1 exon 1 in a patient with SALS who presented with a rapidly progressive course, predominantly affecting the lower motor neurons. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…The majority of respondents with familial ALS (fALS) (31/45, 68.9%) were offered testing, while a minority of respondents with sporadic ALS (sALS) (111/404, 27.5%) were offered testing (p = .00001). …”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This blinded, standardized and unbiased approach provides further support for a possible pathological role of misSOD1 in SALS.…”
Enlace del recurso
Enlace del recurso
Enlace del recurso

“…This review will use the example of the Neuroimaging Society in ALS (NiSALS) to discuss the set-up of a multi-center data sharing ecosystem and the flow of information between various stakeholders. …”
Enlace del recurso
Enlace del recurso
Enlace del recurso