Parcourir par sujet "amyotrophic lateral sclerosis"
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Body mass index and survival from amyotrophic lateral sclerosis: A meta-analysis
(2018)BackgroundSeveral studies have examined the relationship between body mass index (BMI) and survival from amyotrophic lateral sclerosis (ALS). Many indicate that low BMI at diagnosis or during follow-up may be associated ... -
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
(2022)TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle ... -
CYP1A2 rs762551 polymorphism and risk for amyotrophic lateral sclerosis
(2021)Background: Genetic variability is considered to confer susceptibility to amyotrophic lateral sclerosis (ALS). Oxidative stress is a significant contributor to ALS-related neurodegeneration, and it is regulated by cytochromes ... -
The emerging epigenetics of PARK7 and its implication in neurodegenerative disease
(2018)[No abstract available] -
ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population
(2019)Background: Α number of genetic variants have been associated with amyotrophic lateral sclerosis (ALS). A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect ... -
Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants
(2018)Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease of the central nervous system, characterized by progressive loss of motor neurons, and occurring in both sporadic and familial form. The origin of ... -
Genomic variants in the FTO gene are associated with sporadic amyotrophic lateral sclerosis in Greek patients
(2017)Background: Amyotrophic lateral sclerosis (ALS) is a devastating disease whose complex pathology has been associated with a strong genetic component in the context of both familial and sporadic disease. Herein, we adopted ... -
Lack of an association between SCFD1 rs10139154 polymorphism and amyotrophic lateral sclerosis
(2022)Amyotrophic lateral sclerosis (AL S) is a progressive neurodegenerative disease. Through a genome-wide association study (GWAS), the Sec1 family domain-containing protein 1 (SCFD1) rs10139154 variant at 14q12 has emerged ... -
Lack of association between TREM2 rs75932628 variant and amyotrophic lateral sclerosis
(2021)Amyotrophic lateral sclerosis (ALS) is a multifactorial neurodegenerative disease. Inflammatory processes are among the mechanisms that are implicated in ALS pathogenesis. The TREM2 rs75932628 T variant may influence the ... -
MOBP rs616147 polymorphism and risk of amyotrophic lateral sclerosis in a greek population: A case-control study
(2021)Background and Objectives: To date, only one study has investigated the association between the rs616147 polymorphism of the Myelin-associated Oligodendrocyte Basic Protein (MOBP) locus and Amyotrophic Lateral Sclerosis ... -
Myelin-associated oligodendrocyte basic protein rs616147 polymorphism as a risk factor for Parkinson's disease
(2022)BACKGROUND: The rs616147 polymorphism of the myelin-associated oligodendrocyte basic protein (MOBP) gene locus has been associated with amyotrophic lateral sclerosis (ALS). ALS and Parkinson's disease (PD) are two common ... -
New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis
(2019)Amyotrophic lateral sclerosis (ALS) is a rare and fatal neurodegenerative disorder. Two forms are recognized, familial (FALS) that accounts for 5–10% of ALS cases, and sporadic (SALS) that accounts for the rest. Early ... -
Non-genetic risk and protective factors and biomarkers for neurological disorders: a meta-umbrella systematic review of umbrella reviews
(2021)Background: The etiologies of chronic neurological diseases, which heavily contribute to global disease burden, remain far from elucidated. Despite available umbrella reviews on single contributing factors or diseases, no ... -
A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum
(2022)Amyotrophic lateral sclerosis (ALS) belongs to the ALS-frontotemporal dementia (FTD) spectrum and is hallmarked by upper and lower motor neuron degeneration. Here, we present a patient with a cytoplasmic dynein 1 heavy ... -
Patterns of cognitive impairment in neurological disease
(2010)Cognitive impairment is present in neurodegenerative disease, usually as part of a spectrum of symptoms that includes different domains of cognitive function. While the nature of the cognitive impairment tends to be ... -
Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS
(2020)A total of 178 consecutive patients with definite sALS without frontotemporal dementia (FTD) were enrolled in this study, after complete clinical evaluation. A Repeat-Primed Polymerase Chain Reaction (RP-PCR) protocol was ... -
The role of C9orf72 in neurodegenerative disorders: a systematic review, an updated meta-analysis, and the creation of an online database
(2019)A pathologic expansion of a noncoding GGGGCC hexanucleotide repeat of the C9orf72 gene has been strongly associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) cases predominantly ... -
The Role of MicroRNAs in Patients with Amyotrophic Lateral Sclerosis
(2018)Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disease that affects motor neurons and leads to death within 2 to 3 years after the first symptoms manifest. MicroRNAs (miRNAs) are small non-coding RNA ... -
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
(2022)Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic lateral sclerosis and frontotemporal dementia1–3, two related neurodegenerative diseases defined by mislocalization of the RNA-binding ... -
Therapeutic application of rTMS in neurodegenerative and movement disorders: A review
(2022)Transcranial magnetic stimulation (TMS) is a non-invasive form of brain stimulation that makes use of the magnetic field generated when an electric current passes through a magnetic coil placed over the scalp. It can be ...