The influence of genotype on the natural history of Types 1–3 spinal muscular atrophy

Sutherland, C. S., Schneider, S., Ribero, V. A., Simpson, A., Kokaliaris, C., Scalco, R. S., Guittari, C. J., Gorni, K., De Vivo, D. C., Martens, W. B., & Karrer, T. M. (2025). The influence of genotype on the natural history of types 1 - 3 spinal muscular atrophy. Neuromuscular Disorders, 47, 105270. https://doi.org/10.1016/j.nmd.2024.105270
Authors:
C. Simone Sutherland
S. Schneider
Valerie Aponte Ribero
Alex Simpson
Christos Kokaliaris
R. Scalco
Carol Jean Guittari
Ksenija Gorni
Darryl C. De Vivo
William B. Martens
Teresa M. Karrer
Affiliated Authors:
Darryl C. De Vivo
Columbia Affiliation:
Subjects:
Survival of Motor Neuron 2 Protein (MeSH)
Genotype (MeSH)
Gene Therapy for Spinal Muscular Atrophy (OpenAlex Topic)
Etiology and Management of Abdominal Wall Defects (OpenAlex Topic)
RNA Methylation and Modification in Gene Expression (OpenAlex Topic)
Author Keywords:
spinal muscular atrophy
smn2 copy number
rare genetic disease
sma
natural history
outcomes
elink
Publication Type:
Article
Unique ID:
10.1016/j.nmd.2024.105270
PMID:
39864377
DOI:
10.1016/j.nmd.2024.105270
Journal:
Neuromuscular Disorders
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: