نتایج جستجو برای: ژن als
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Amyotrophic lateral sclerosis (ALS) is a late-onset, fatal disorder in which the motor neurons degenerate. The discovery of new drugs for treating ALS has been hampered by a lack of access to motor neurons from ALS patients and appropriate disease models. We generate motor neurons from induced pluripotent stem cells (iPSCs) from familial ALS patients, who carry mutations in Tar DNA binding prot...
BACKGROUND Mutations in the angiogenin gene, ANG, have been associated recently with familial and sporadic forms of amyotrophic lateral sclerosis (ALS). However, the cellular and molecular mechanisms that link ANG, a multidomain protein, to ALS are still unknown. OBJECTIVE To assess the frequency of ANG gene mutations in 855 French patients with sporadic ALS. DESIGN We analyzed by direct se...
Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disease in which the loss of spinal cord motor neurons leads to paralysis and death within a few years of clinical disease onset. In almost all cases of ALS, transactive response DNA binding protein of 43 kDa (TDP-43) forms cytoplasmic neuronal inclusions. A second causative gene for a subset of ALS is fused in sarcoma, an RNA b...
Mutations in the optineurin (OPTN) gene cause amyotrophic lateral sclerosis (ALS). We previously reported three types of OPTN mutation in Japanese ALS subjects. Here, to identify the OPTN mutations in individuals of different ethnicity, we screened 563 sporadic ALS (SALS) subjects and 124 familial ALS (FALS) subjects who were mainly Caucasian. We found a c.964T>C synonymous variation in exon 8....
Transcriptional regulators and neurotrophic factors in the pathogenesis of Amyotrophic Lateral Sclerosis (ALS) Histopathological and biochemical studies in the G93A ALS mouse model and in ALS post mortem tissue THESIS submitted in partial fulfillment of the requirements for the degree-Doctor rerum naturalium-Parts of the thesis have been published or submitted previously in: milder impairment o...
PROBLEM/CONDITION Amyotrophic lateral sclerosis (ALS), commonly known as Lou Gehrig's disease, is a progressive and fatal neuromuscular disease for which no cure or viable treatment has been identified. ALS, like most noncommunicable diseases, is not a nationally notifiable disease in the United States. The prevalence of ALS in the United States during 2010-2011 was estimated to be 3.9 cases pe...
BACKGROUND Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that dramatically affects patients' quality of life (QoL) and dignity of life (DoL). We aimed to study the impact of ALS on QoL and DoL and how these evolve throughout the duration of the disease. METHODS First, we performed an observational, descriptive study of 43 patients with ALS recruited from the AL...
OBJECTIVE To determine the extent of an inherited contribution to amyotrophic lateral sclerosis (ALS) mortality. METHODS Death certificates (DCs) from 1904 to 2009 were analyzed from patients with at least 3 generations recorded in the Utah Population Database, a genealogic and medical database of more than 2 million Utah residents. Among probands whose DCs listed ALS, the relative risk (RR) ...
die vorliegende untersuchung besteht aus drei theoretischen und praktischen teilen sowie zwei anlagen. in dem theroretischen teil wrird auf die lehrmethode hingewiesen. auberdem werden vierzehn unterschiedliche themen und die wichtigsten resultate der durchgefuhrten meinungesumfragen vorgelegt. fur den praktischen teil wurden als beispiel 14 zielgerichtete und zusammenhangende themen uber allta...
IMPORTANCE Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which microglia play a significant and active role. Recently, a rare missense variant (p.R47H) in the microglial activating gene TREM2 was found to increase the risk of several neurodegenerative diseases, including Alzheimer disease. Whether the p.R47H variant is a risk factor for ALS is not known. OBJECTIV...
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