Makale detayı · 2015
The relation between visual motor control and upper limb speed and dexterity in Duchenne muscular dystrophy
Dergi
NEUROMUSCULAR DİSORDERSISSN 1059-7794
ISSN kaydı başka bir dergiye işaret ediyor; ad YÖKSİS kaydından.
- Yıl
- 2015
- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
- YÖKSİS dergi adı NEUROMUSCULAR DİSORDERS
- Katalog eşleşmesi (ISSN) Human Mutation
- OpenAlex OpenAlex zenginleştirmesi (özet, atıf, konular)
Özet
OpenAlex · İngilizce
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).
Konular
Atıflar
OpenAlex cited_by_count. WoS veya Scopus atıf sayısı değildir; o kaynaklar için ayrı kolon yoktur.
755 atıf
OpenAlex cited_by_count (önbellek / veritabanı)
Yerel katalogda bu makaleye atıf yapan 7 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).
- Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database 2017
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients 2024
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients. 2024
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients 2024
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients 2024
- DUCHENNE KAS DİSTROFİSİNDE YENİ UFUKLAR: NÜKLEER FAKTÖR KAPPA YOLU VE VAMOROLON’UN TEDAVİYE ETKİLERİ 2025
- DUCHENNE KAS DİSTROFİSİNDE YENİ UFUKLAR: NÜKLEER FAKTÖR KAPPA YOLU VE VAMOROLON’UN TEDAVİYE ETKİLERİ 2025