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Article

Longitudinal natural history of type I spinal muscular atrophy: a critical review.

Orphanet journal of rare diseases - 5 Apr 2020

Mercuri Eugenio, Lucibello Simona, Perulli Marco, Coratti Giorgia, de Sanctis Roberto, Pera Maria Carmela, Pane Marika, Montes Jacqueline, de Vivo Darryl C, Darras Basil T, Kolb Stephen J, Finkel Richard S

Abstract excerpt

BACKGROUND: The advent of new therapies in spinal muscular atrophy (SMA) has highlighted the need to have natural history data for comparison. Natural history studies using structured assessments in type I however are very limited. We identified and reviewed all the existing longitudinal history data in infants with type I SMA first assessed before the age of 7 months with the Children's Hospital of Philadelphia...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32248834
DOI: 10.1186/s13023-020-01356-1
PMCID: PMC7132885

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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