DAS
DAS
Industry:
Health Care Information Technology Software
Founded:
2003-12-01
Address:
Badalona, Catalonia, Spain
Country:
Spain
Website Url:
http://www.dassl.net
Total Employee:
1+
Status:
Active
Contact:
34-933205994
Technology used in webpage:
SPF Apache DigiCert SSL FLoC Opt-Out GeoTrust SSL FLoC Arsys.es Arsys DNS TeamViewer
Official Site Inspections
http://www.dassl.net
- Host name: llgm965.servidoresdns.net
- IP address: 217.76.142.91
- Location: Spain
- Latitude: 40.4172
- Longitude: -3.684
- Timezone: Europe/Madrid
More informations about "Das"
Cure for ADSSL1 gene myopathy
We are a parent run organization whose mission is to find a cure for myopathy caused by caused by an inborn disorder of purine metabolism in muscle cells due to mutation in the ADSS(L)1 …See details»
Patient Registry - cure-adssl1.org
Cure ADSSL1, a non-profit organization (Tax ID number 88-1577647), is qualified as a tax-exempt organization under section 501(c)(3) of the. IRS and has been designated as a “public charity” under section 170.See details»
Fact Friday - ADSSL1-Gene Related Myopathy - Cure …
Jun 3, 2022 The abnormal gene, ADSSL-1, is passed down by family members who carry the mutation. It is autosomal recessive, which means an individual must inherit two copies of the mutated gene (one from each parent) to inherit …See details»
ADSSL1 myopathy is the most common nemaline myopathy in …
Sep 15, 2020 Objective: To elucidate the prevalence of Japanese ADSSL1 myopathy and determine the clinicopathologic features of the disease. Methods: We searched for ADSSL1 …See details»
ADSSL1 (gene) - Wikipedia
Adenylosuccinate synthase like 1 is a protein that in humans is encoded by the ADSS1 gene. See details»
Panorama of the distal myopathies - PMC - PubMed Central (PMC)
Abstract. Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the …See details»
(PDF) ADSSL1 myopathy is the most common nemaline …
PDF | On Jul 9, 2020, Yoshihiko Saito and others published ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features | Find, read and cite all the research you ...See details»
ADSSL1 myopathy is the most common nemaline myopathy in …
Jul 9, 2020 ADSSL-caused myopathy is reportedly the most common form of NM in Japan [49], but the basic mechanism may be one of energy metabolism. It is characterised histologically …See details»
Entry - *612498 - ADENYLOSUCCINATE SYNTHASE 1; ADSS1 - OMIM
Nov 6, 2020 In 4 patients from 2 unrelated Korean families with distal myopathy-5 (MPD5; 617030), Park et al. (2016) identified compound heterozygous mutations in the ADSSL1 gene: …See details»
Clinical and molecular characterization of patients with ...
Mar 1, 2021 Sequence alignments and location of the mutated residues in the identified ADSL holoenzyme organization. (top) Multiple sequence alignments around the residues affected by …See details»
ADSSL 1 mutation relevant to autosomal recessive …
Oct 27, 2015 Corresponding Author. Ki Wha Chung PhD. Department of Biological Science, Kongju National University, Gongju, South Korea. Address correspondence to Dr Byung-Ok Choi, Samsung Medical Center, …See details»
Recent advances in nemaline myopathy - ScienceDirect
Oct 1, 2021 1. Introduction. Nemaline myopathy (NM; [1, 2]) is one of the most common of the congenital myopathies, ranging in severity from severe forms, which may cause early lethality …See details»
ADSSL1 mutation relevant to autosomal recessive adolescent
Objective: Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of …See details»
Distal myopathy with ADSSL1 mutations in Korean patients
May 1, 2017 Among pathogenic or likely pathogenic variants in the ADSSL1 gene, two variants (c.910G>A and c.1048delA) were previously reported and were on conserved founder …See details»
(PDF) Recent advances in nemaline myopathy - ResearchGate
Jul 1, 2021 ADSSL-caused myopathy is reportedly the most common form of NM in Japan [49], but the . basic mechanism may be one of energy metabolism. It is characterised histologically …See details»
Expanding the disease phenotype of ADSSL1-associated …
Adenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine …See details»
Adssl1-mediated purine synthesis modulates ... - Oxford Academic
Nov 9, 2023 The enhancement of pre-exist cardiomyocyte proliferation has been proved to be an effective treatment of myocardial infarction(MI) (1-2). Purine bases from the de novo purine …See details»
Toggle to new Outlook - M365 Admin - m365admin.handsontek.net
2 days ago Starting April 2026, Microsoft 365 for Enterprise users will be switched from classic to new Outlook for Windows, with the option to revert back. This change aims to enhance user …See details»
Expanding the disease phenotype of ADSSL1-associated
Feb 1, 2020 The ADSSL gene encodes the muscle isozyme of adenylosuccinate synthase, the enzyme catalysing the initial reaction in the conversion of inosine monophosphate (IMP) to …See details»
TDSO Q&A - Quiz - Wordwall
A) Teacher Development Support Organization b) Teacher Development Support Office c) Teaching and Developing Students Organization d) Teachers Developing Students …See details»