Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment.
SMN1
SMN2
antisense oligonucleotides
classification
gene therapy
low-molecular-weight compounds
newborn screening
spinal muscular atrophy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Jul 2023
26 Jul 2023
Historique:
received:
28
06
2023
revised:
17
07
2023
accepted:
21
07
2023
medline:
14
8
2023
pubmed:
12
8
2023
entrez:
12
8
2023
Statut:
epublish
Résumé
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the phenotypic variation of SMA led to controversy regarding the clinical entity of the disease, the genetic homogeneity of SMA was proved in 1990. Five years later, in 1995, the gene responsible for SMA,
Identifiants
pubmed: 37569314
pii: ijms241511939
doi: 10.3390/ijms241511939
pmc: PMC10418635
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Education, Culture, Sports, Science and Technology
ID : 23K07279
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