Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

12 Nov 2019

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene deletion/mutation. The drug nusinersen modifies SMN2 mRNA splicing, increasing the production of the full-length SMN protein. Recent studies have demonstrated the beneficial effects of nusinersen in patients with SMA, particularly when treated in early infancy. Because nusinersen treatment can alter disease trajectory, there is a strong...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Neurogenetic and Muscular Disorders Research
Share to RNA modifications and cancer
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 33072999
DOI: 10.3390/ijns5040041

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot StudyPMID 33072999Read ↗

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint-PetersburgSemantic proximity Read ↗

Establishment of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in Saint PetersburgSemantic proximity Read ↗

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers.Semantic proximity Read ↗

Newborn Screening for SMA - Results After Two Years of a Large Pilot Project Semantic proximity Read ↗

SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test.Semantic proximity Read ↗

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.Semantic proximity Read ↗

Spinal muscular atrophy: from gene discovery to clinical trials.Semantic proximity Read ↗

Newborn screening facilitates early theranostics and improved spinal muscular atrophy outcome: five-year real-world evidence from TaiwanSemantic proximity Read ↗

Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass SpectrometrySemantic proximity Read ↗

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot ProjectSemantic proximity Read ↗

Spinal Muscular Atrophy: Mutations, Testing, and Clinical RelevanceSemantic proximity Read ↗

SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.