Cargando…
Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots
Spinal muscular atrophy (SMA) is a lower motor neuron disease, once considered incurable. The main symptoms are muscle weakness and muscular atrophy. More than 90% of cases of SMA are caused by homozygous deletion of survival motor neuron 1 (SMN1). Emerging treatments, such as splicing modulation of...
Autores principales: | Wijaya, Yogik Onky Silvana, Nishio, Hisahide, Niba, Emma Tabe Eko, Okamoto, Kentaro, Shintaku, Haruo, Takeshima, Yasuhiro, Saito, Toshio, Shinohara, Masakazu, Awano, Hiroyuki |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535962/ https://www.ncbi.nlm.nih.gov/pubmed/34681015 http://dx.doi.org/10.3390/genes12101621 |
Ejemplares similares
-
High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts
por: Wijaya, Yogik Onky Silvana, et al.
Publicado: (2022) -
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy
por: Niba, Emma Tabe Eko, et al.
Publicado: (2022) -
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis
por: Niba, Emma Tabe Eko, et al.
Publicado: (2021) -
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan
por: Kimizu, Tomokazu, et al.
Publicado: (2021) -
Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
por: Nishio, Hisahide, et al.
Publicado: (2023)